#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRHL2	79977	broad.mit.edu	37	8	102555627	102555627	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:102555627G>A	ENST00000251808.3	+	2	517	c.179G>A	c.(178-180)aGt>aAt	p.S60N	GRHL2_ENST00000395927.1_Missense_Mutation_p.S44N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	60	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GATGAGGACAGTGCTGCTGCC	0.537																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(178-180)aGt>aAt		grainyhead-like 2 (Drosophila)							115.0	112.0	113.0					8																	102555627		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102555627G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.179G>A	8.37:g.102555627G>A	ENSP00000251808:p.Ser60Asn					GRHL2_ENST00000395927.1_Missense_Mutation_p.S44N	p.S60N	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		2	517	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		60			Transcription activation.		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.179G>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417308	0.96092	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.55930	0.49;0.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76786	0.4036	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.992	T	0.78937	-0.2007	10	0.87932	D	0	-18.8631	20.1496	0.98084	0.0:0.0:1.0:0.0	.	60;60;60	B4DL28;Q6ISB3;A8K9Y8	.;GRHL2_HUMAN;.	N	60;44;60	ENSP00000251808:S60N;ENSP00000379260:S44N	ENSP00000251808:S60N	S	+	2	0	GRHL2	102624803	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	AGT		0.537	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		57	105	0	0	0	1	0	57	105				
IGSF9	57549	broad.mit.edu	37	1	159901696	159901696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:159901696C>A	ENST00000368094.1	-	11	1465	c.1268G>T	c.(1267-1269)cGg>cTg	p.R423L	IGSF9_ENST00000361509.3_Missense_Mutation_p.R407L|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	423	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCTTGGGCCGCTCTATAAA	0.577																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1267-1269)cGg>cTg		immunoglobulin superfamily, member 9							50.0	59.0	56.0					1																	159901696		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159901696C>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1268G>T	1.37:g.159901696C>A	ENSP00000357073:p.Arg423Leu					IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R407L	p.R423L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1465	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	423			Ig-like 5.			Missense_Mutation	SNP	ENST00000368094.1	37	c.1268G>T	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	5.728	0.318850	0.10845	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.77489	-1.1;-1.1	4.21	-2.15	0.07102	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.905668	0.08966	N	0.867942	T	0.31420	0.0796	N	0.12961	0.28	0.09310	N	0.999999	B;B	0.18741	0.014;0.03	B;B	0.18871	0.023;0.014	T	0.13202	-1.0518	9	.	.	.	-7.0106	3.2258	0.06731	0.4347:0.239:0.0:0.3263	.	423;423	Q9P2J2;C9JI81	TUTLA_HUMAN;.	L	407;423;423	ENSP00000355049:R407L;ENSP00000357073:R423L	.	R	-	2	0	IGSF9	158168320	0.048000	0.20356	0.984000	0.44739	0.506000	0.33950	0.417000	0.21214	-0.049000	0.13379	-0.226000	0.12346	CGG		0.577	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		20	94	1	0	3.7963e-18	1	4.42553e-18	20	94				
HADH	3033	broad.mit.edu	37	4	108935733	108935733	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:108935733G>C	ENST00000309522.3	+	3	557	c.408G>C	c.(406-408)aaG>aaC	p.K136N	HADH_ENST00000454409.2_Missense_Mutation_p.K140N|HADH_ENST00000505878.1_Missense_Mutation_p.K140N|HADH_ENST00000403312.1_Missense_Mutation_p.K195N|HADH_ENST00000603302.1_Missense_Mutation_p.K136N	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	464					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GGCTGGACAAGTTTGCTGCTG	0.383																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(418-420)aaG>aaC		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						156.0	139.0	145.0					4																	108935733		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108935733G>C	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.408G>C	4.37:g.108935733G>C	ENSP00000312288:p.Lys136Asn					HADH_ENST00000603302.1_Missense_Mutation_p.K136N|HADH_ENST00000454409.2_Missense_Mutation_p.K140N|HADH_ENST00000309522.3_Missense_Mutation_p.K136N|HADH_ENST00000403312.1_Missense_Mutation_p.K195N	p.K140N			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	4	693	+		Hepatocellular(203;0.217)	136					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.420G>C	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246900	0.39697	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.77877	-1.13;-1.13;-1.13	5.84	3.18	0.36537	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.58925	1.835	0.58432	D	0.999997	P;B;B	0.37083	0.581;0.228;0.228	B;B;B	0.32624	0.149;0.14;0.126	T	0.68277	-0.5451	10	0.49607	T	0.09	-26.7104	9.7157	0.40274	0.2667:0.0:0.7333:0.0	.	195;140;136	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	N	136;136;140;140	ENSP00000312288:K136N;ENSP00000425952:K140N;ENSP00000395167:K140N	ENSP00000312288:K136N	K	+	3	2	HADH	109155182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.578000	0.46051	0.815000	0.34398	0.655000	0.94253	AAG		0.383	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		29	163	0	0	0	1	0	29	163				
HCN3	57657	broad.mit.edu	37	1	155258185	155258185	+	Silent	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:155258185C>A	ENST00000368358.3	+	8	2264	c.2256C>A	c.(2254-2256)gcC>gcA	p.A752A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	752	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGACAGCCCAGCCCCCCA	0.617																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2254-2256)gcC>gcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							39.0	50.0	46.0					1																	155258185		2202	4300	6502	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155258185C>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.2256C>A	1.37:g.155258185C>A						HCN3_ENST00000496230.1_3'UTR	p.A752A	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	2264	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		752			Pro-rich.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.2256C>A	CCDS1108.1																																																																																				0.617	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		29	152	1	0	7.01153e-11	1	7.58684e-11	29	152				
COG8	84342	broad.mit.edu	37	16	69373327	69373327	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:69373327C>T	ENST00000306875.4	-	1	243	c.129G>A	c.(127-129)cgG>cgA	p.R43R	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000569637.2_5'Flank|COG8_ENST00000562081.1_Silent_p.R43R|NIP7_ENST00000254941.6_5'Flank|NIP7_ENST00000254940.5_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	43					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CCACATCGGGCCGCTCGCGCC	0.751																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(127-129)cgG>cgA		component of oligomeric golgi complex 8							4.0	5.0	5.0					16																	69373327		1861	3844	5705	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69373327C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.129G>A	16.37:g.69373327C>T						RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_Silent_p.R43R|RP11-343C2.7_ENST00000564737.1_Intron	p.R43R	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			1	243	-			43					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.129G>A	CCDS10876.1																																																																																				0.751	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		19	6	0	0	0	1	0	19	6				
MFI2	4241	broad.mit.edu	37	3	196743181	196743181	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:196743181C>A	ENST00000296350.5	-	8	1073	c.960G>T	c.(958-960)caG>caT	p.Q320H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	320	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAGATCCTTCTGGCCATAGG	0.582																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(958-960)caG>caT		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							124.0	116.0	119.0					3																	196743181		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196743181C>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.960G>T	3.37:g.196743181C>A	ENSP00000296350:p.Gln320His						p.Q320H	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	8	1073	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		320			Transferrin-like 1.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.960G>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261550	0.23051	.	.	ENSG00000163975	ENST00000296350	T	0.14144	2.53	5.15	2.31	0.28768	.	0.374597	0.28841	N	0.013977	T	0.10252	0.0251	L	0.46157	1.445	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.19484	-1.0304	10	0.40728	T	0.16	-22.1985	2.4758	0.04575	0.1338:0.4118:0.2906:0.1638	.	320	P08582	TRFM_HUMAN	H	320	ENSP00000296350:Q320H	ENSP00000296350:Q320H	Q	-	3	2	MFI2	198227578	0.735000	0.28153	1.000000	0.80357	0.603000	0.37013	-0.255000	0.08769	0.175000	0.19841	0.462000	0.41574	CAG		0.582	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			20	394	1	0	1.50039e-11	1	1.64032e-11	20	394				
ZDHHC4	55146	broad.mit.edu	37	7	6628477	6628477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:6628477G>A	ENST00000396706.2	+	8	1414	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R324Q|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R324Q|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R324Q|C7orf26_ENST00000359073.5_5'Flank			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	324						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CATGGGCTTCGGAGCAACCTT	0.537																																						ENST00000396706.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(970-972)cGg>cAg		zinc finger, DHHC-type containing 4							124.0	118.0	120.0					7																	6628477		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628477G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.971G>A	7.37:g.6628477G>A	ENSP00000379934:p.Arg324Gln					AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R324Q|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R324Q	p.R324Q			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1414	+		Ovarian(82;0.232)	324					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.971G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263994	0.59431	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.84	4.84	0.62591	.	0.214718	0.41712	D	0.000836	T	0.26231	0.0640	L	0.29908	0.895	0.29197	N	0.875507	B	0.30439	0.279	B	0.20184	0.028	T	0.10451	-1.0629	10	0.29301	T	0.29	-4.8948	15.8183	0.78621	0.0:0.0:1.0:0.0	.	324	Q9NPG8	ZDHC4_HUMAN	Q	324	ENSP00000385027:R324Q;ENSP00000379941:R324Q;ENSP00000379935:R324Q;ENSP00000337475:R324Q;ENSP00000379937:R324Q;ENSP00000379934:R324Q	ENSP00000337475:R324Q	R	+	2	0	ZDHHC4	6595002	1.000000	0.71417	0.980000	0.43619	0.881000	0.50899	4.845000	0.62853	2.402000	0.81655	0.655000	0.94253	CGG		0.537	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		34	147	0	0	0	1	0	34	147				
ASPG	374569	broad.mit.edu	37	14	104561975	104561975	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:104561975C>T	ENST00000551177.1	+	4	503	c.411C>T	c.(409-411)gtC>gtT	p.V137V	ASPG_ENST00000546892.2_Silent_p.V137V|ASPG_ENST00000455920.2_Silent_p.V137V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	137	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AGAAGACTGTCATCCTCACTG	0.637																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(409-411)gtC>gtT		asparaginase homolog (S. cerevisiae)							58.0	62.0	61.0					14																	104561975		2046	4184	6230	SO:0001819	synonymous_variant	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104561975C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.411C>T	14.37:g.104561975C>T						ASPG_ENST00000455920.2_Silent_p.V137V|ASPG_ENST00000546892.2_Silent_p.V137V	p.V137V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			4	503	+			137			Asparaginase.		B9EGQ2|Q8IV80	Silent	SNP	ENST00000551177.1	37	c.411C>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	0.232	-1.020201	0.02061	.	.	ENSG00000166183	ENST00000551170	.	.	.	3.93	0.875	0.19130	.	.	.	.	.	T	0.42449	0.1203	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	-48.0867	1.6919	0.02853	0.154:0.3612:0.3009:0.1839	.	.	.	.	Y	74	.	.	H	+	1	0	ASPG	103631728	0.081000	0.21417	0.026000	0.17262	0.069000	0.16628	0.159000	0.16442	-0.061000	0.13110	-1.509000	0.00949	CAT		0.637	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		40	64	0	0	0	1	0	40	64				
SPEF2	79925	broad.mit.edu	37	5	35763640	35763640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:35763640C>T	ENST00000356031.3	+	26	3791	c.3637C>T	c.(3637-3639)Cga>Tga	p.R1213*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.R1208*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1213					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTAGTTCCTCGAATATCCAT	0.333																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3622-3624)Cga>Tga		sperm flagellar 2							84.0	73.0	77.0					5																	35763640		1813	4081	5894	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35763640C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3637C>T	5.37:g.35763640C>T	ENSP00000348314:p.Arg1213*					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.R1213*	p.R1208*			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		26	3622	+	all_lung(31;7.56e-05)		1213					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.3622C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	44	10.586544	0.99432	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	6.08	6.08	0.98989	.	0.412936	0.25175	N	0.032577	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4436	0.94836	0.0:1.0:0.0:0.0	.	.	.	.	X	1213;1208	.	ENSP00000348314:R1213X	R	+	1	2	SPEF2	35799397	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.293000	0.43558	2.894000	0.99253	0.591000	0.81541	CGA		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		27	35	0	0	0	1	0	27	35				
SLC25A33	84275	broad.mit.edu	37	1	9640230	9640230	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:9640230T>A	ENST00000302692.6	+	6	911	c.701T>A	c.(700-702)tTt>tAt	p.F234Y		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	234					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ACAAGTTTTTTTGGACTTATG	0.398																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(700-702)tTt>tAt		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							50.0	50.0	50.0					1																	9640230		2197	4295	6492	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9640230T>A	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.701T>A	1.37:g.9640230T>A	ENSP00000306328:p.Phe234Tyr						p.F234Y	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	6	911	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	234						Missense_Mutation	SNP	ENST00000302692.6	37	c.701T>A	CCDS103.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149382	0.57151	.	.	ENSG00000171612	ENST00000302692	T	0.79653	-1.29	5.66	5.66	0.87406	Mitochondrial carrier domain (2);	0.160649	0.64402	D	0.000020	T	0.75125	0.3807	L	0.31926	0.97	0.48901	D	0.999727	B	0.21071	0.051	B	0.38683	0.279	T	0.65861	-0.6065	10	0.02654	T	1	-18.2826	15.3831	0.74676	0.0:0.0:0.0:1.0	.	234	Q9BSK2	S2533_HUMAN	Y	234	ENSP00000306328:F234Y	ENSP00000306328:F234Y	F	+	2	0	SLC25A33	9562817	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.997000	0.88414	2.285000	0.76669	0.533000	0.62120	TTT		0.398	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		26	45	0	0	0	1	0	26	45				
OXR1	55074	broad.mit.edu	37	8	107719385	107719385	+	Intron	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:107719385A>G	ENST00000442977.2	+	8	1726				OXR1_ENST00000445937.1_Intron|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000497705.1_Missense_Mutation_p.R479G|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000312046.6_Intron	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TAAGTGTTATAGAGTAAATGA	0.378																																						ENST00000497705.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1435-1437)Aga>Gga		oxidation resistance 1							47.0	46.0	46.0					8																	107719385		2203	4300	6503	SO:0001627	intron_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719385A>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1627+12A>G	8.37:g.107719385A>G						OXR1_ENST00000452423.2_Intron|OXR1_ENST00000442977.2_Intron|OXR1_ENST00000445937.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000312046.6_Intron|OXR1_ENST00000531443.1_Intron	p.R479G			Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	1474	+			0					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1435A>G	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	A	1.008	-0.688772	0.03328	.	.	ENSG00000164830	ENST00000497705	T	0.23950	1.88	4.53	-6.32	0.01995	.	.	.	.	.	T	0.13884	0.0336	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33266	-0.9875	7	.	.	.	.	13.2389	0.59985	0.676:0.0:0.324:0.0	.	479	Q8N573-3	.	G	479	ENSP00000431014:R479G	.	R	+	1	2	OXR1	107788561	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.212000	0.09319	-1.413000	0.02027	-1.039000	0.02377	AGA		0.378	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		23	33	0	0	0	1	0	23	33				
FAT4	79633	broad.mit.edu	37	4	126238326	126238326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:126238326C>T	ENST00000394329.3	+	1	773	c.760C>T	c.(760-762)Cac>Tac	p.H254Y		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	254	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCAGTTCTCACTACCAGGC	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(760-762)Cac>Tac		FAT atypical cadherin 4							22.0	26.0	25.0					4																	126238326		1943	4136	6079	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238326C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.760C>T	4.37:g.126238326C>T	ENSP00000377862:p.His254Tyr		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.H254Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	773	+			254			Cadherin 3.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.760C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821958	0.32237	.	.	ENSG00000196159	ENST00000394329	T	0.60548	0.18	5.13	5.13	0.70059	Cadherin (3);Cadherin-like (1);	0.243209	0.20719	U	0.086948	T	0.43853	0.1266	N	0.16201	0.385	0.80722	D	1	B	0.26744	0.158	B	0.30179	0.112	T	0.45366	-0.9266	10	0.59425	D	0.04	.	14.24	0.65952	0.0:0.851:0.149:0.0	.	254	Q6V0I7	FAT4_HUMAN	Y	254	ENSP00000377862:H254Y	ENSP00000377862:H254Y	H	+	1	0	FAT4	126457776	0.995000	0.38212	1.000000	0.80357	0.883000	0.51084	3.782000	0.55401	2.364000	0.80123	0.655000	0.94253	CAC		0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		33	50	0	0	0	1	0	33	50				
KLHL35	283212	broad.mit.edu	37	11	75139524	75139524	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:75139524G>A	ENST00000539798.1	-	2	1028	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	KLHL35_ENST00000376292.4_Silent_p.F123F	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	343										lung(2)|stomach(1)	3						CACAGGCGGCGAATTCTGAGC	0.647																																					Colon(77;683 1691 18820 23811)	ENST00000539798.1																			0				lung(2)|stomach(1)	3						c.(1027-1029)ttC>ttT		kelch-like family member 35							40.0	49.0	46.0					11																	75139524		2002	4163	6165	SO:0001819	synonymous_variant	283212							g.chr11:75139524G>A		CCDS44685.1, CCDS44685.2	11q13.4	2013-02-22	2013-02-22		ENSG00000149243	ENSG00000149243		"""Kelch-like"", ""BTB/POZ domain containing"""	26597	protein-coding gene	gene with protein product			"""kelch-like 35 (Drosophila)"""				Standard	NM_001039548		Approved	FLJ33790	uc001owm.2	Q6PF15	OTTHUMG00000133573	ENST00000539798.1:c.1029C>T	11.37:g.75139524G>A						KLHL35_ENST00000376292.4_Silent_p.F123F	p.F343F	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN			2	1028	-			123					A2RU06|F5H412|Q86XM7|Q8NBB1	Silent	SNP	ENST00000539798.1	37	c.1029C>T	CCDS44685.2																																																																																				0.647	KLHL35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173583		41	31	0	0	0	1	0	41	31				
NAV3	89795	broad.mit.edu	37	12	78513517	78513517	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:78513517C>A	ENST00000397909.2	+	15	3714	c.3541C>A	c.(3541-3543)Cca>Aca	p.P1181T	NAV3_ENST00000228327.6_Missense_Mutation_p.P1181T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1181T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1181T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1181	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGAGAGAACCAACTAAAAT	0.502										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3541-3543)Cca>Aca		neuron navigator 3							75.0	79.0	78.0					12																	78513517		1930	4115	6045	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513517C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3541C>A	12.37:g.78513517C>A	ENSP00000381007:p.Pro1181Thr	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.P1181T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1181T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1181T	p.P1181T			Q8IVL0	NAV3_HUMAN			15	3714	+			1181			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3541C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.510604|3.510604	0.64522|0.64522	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.39985|.	U|.	0.001213|.	T|T	0.67163|0.67163	0.2864|0.2864	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.42375|.	0.021;0.778;0.132;0.154|.	B;P;B;B|.	0.49085|.	0.028;0.6;0.021;0.078|.	T|T	0.61931|0.61931	-0.6961|-0.6961	10|5	0.59425|.	D|.	0.04|.	-16.4786|-16.4786	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1181;1181;1181;1181|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	T|N	1181|252	ENSP00000446132:P1181T;ENSP00000381007:P1181T;ENSP00000228327:P1181T;ENSP00000266692:P1181T|.	ENSP00000228327:P1181T|.	P|T	+|+	1|2	0|0	NAV3|NAV3	77037648|77037648	0.982000|0.982000	0.34865|0.34865	0.951000|0.951000	0.38953|0.38953	0.944000|0.944000	0.59088|0.59088	3.270000|3.270000	0.51600|0.51600	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		44	54	1	0	1.6237e-14	1	1.87213e-14	44	54				
RLF	6018	broad.mit.edu	37	1	40703673	40703673	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:40703673C>T	ENST00000372771.4	+	8	3326	c.3299C>T	c.(3298-3300)tCa>tTa	p.S1100L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1100					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTCAGTTTCATCTATCTCA	0.418																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(3298-3300)tCa>tTa		rearranged L-myc fusion							121.0	121.0	121.0					1																	40703673		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40703673C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3299C>T	1.37:g.40703673C>T	ENSP00000361857:p.Ser1100Leu						p.S1100L	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3326	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1100					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.3299C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513752	0.27123	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	5.11	5.11	0.69529	.	0.792676	0.11889	N	0.519745	T	0.12092	0.0294	L	0.36672	1.1	0.28425	N	0.91757	B;B	0.13594	0.003;0.008	B;B	0.14578	0.002;0.011	T	0.04029	-1.0983	10	0.51188	T	0.08	-3.2898	7.987	0.30218	0.2311:0.6902:0.0:0.0787	.	793;1100	F5H2M5;Q13129	.;RLF_HUMAN	L	1100;793	ENSP00000361857:S1100L	ENSP00000361857:S1100L	S	+	2	0	RLF	40476260	0.842000	0.29525	0.919000	0.36401	0.968000	0.65278	1.322000	0.33689	2.651000	0.90000	0.655000	0.94253	TCA		0.418	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		41	89	0	0	0	1	0	41	89				
EGF	1950	broad.mit.edu	37	4	110915984	110915984	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:110915984C>T	ENST00000265171.5	+	20	3398	c.2953C>T	c.(2953-2955)Ctc>Ttc	p.L985F	EGF_ENST00000503392.1_Missense_Mutation_p.L944F|EGF_ENST00000509793.1_Missense_Mutation_p.L943F|RNU6-35P_ENST00000384530.1_RNA	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	985	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGGTACTGCCTCCATGATGG	0.468																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2953-2955)Ctc>Ttc		epidermal growth factor	Sulindac(DB00605)						174.0	140.0	151.0					4																	110915984		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915984C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2953C>T	4.37:g.110915984C>T	ENSP00000265171:p.Leu985Phe					EGF_ENST00000503392.1_Missense_Mutation_p.L944F|EGF_ENST00000509793.1_Missense_Mutation_p.L943F	p.L985F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3398	+		Hepatocellular(203;0.0893)	985			EGF-like 9.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.2953C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787334	0.70337	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.14640	2.49;2.49;2.49	5.35	5.35	0.76521	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01670	-1.1299	10	0.54805	T	0.06	.	16.0046	0.80354	0.0:1.0:0.0:0.0	.	944;943;985	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	F	943;985;944	ENSP00000424316:L943F;ENSP00000265171:L985F;ENSP00000421384:L944F	ENSP00000265171:L985F	L	+	1	0	EGF	111135433	1.000000	0.71417	0.994000	0.49952	0.405000	0.30901	5.788000	0.69020	2.493000	0.84123	0.655000	0.94253	CTC		0.468	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			39	63	0	0	0	1	0	39	63				
PLA2G4E	123745	broad.mit.edu	37	15	42281668	42281668	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:42281668G>C	ENST00000399518.3	-	15	2154	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.F527L|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	544	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCCCCATGAAGAACTCGGAGC	0.602											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(1666-1668)ttC>ttG		phospholipase A2, group IVE							39.0	47.0	44.0					15																	42281668		2194	4296	6490	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42281668G>C		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1668C>G	15.37:g.42281668G>C	ENSP00000382434:p.Phe556Leu		OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.F527L	p.F556L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	15	2154	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	544			PLA2c.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.1668C>G	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901126	0.92035	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.05580	3.42;3.42	5.94	5.94	0.96194	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.057716	0.64402	D	0.000001	T	0.25606	0.0623	M	0.80847	2.515	0.38487	D	0.947865	D;D	0.69078	0.997;0.994	D;D	0.78314	0.991;0.967	T	0.00893	-1.1524	10	0.62326	D	0.03	-30.7754	12.4638	0.55747	0.0772:0.0:0.9228:0.0	.	527;544	C9JK77;Q3MJ16	.;PA24E_HUMAN	L	556;527	ENSP00000382434:F556L;ENSP00000413897:F527L	ENSP00000382434:F556L	F	-	3	2	PLA2G4E	40068960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.901000	0.63259	2.826000	0.97356	0.561000	0.74099	TTC		0.602	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		26	5	0	0	0	1	0	26	5				
ZFAT	57623	broad.mit.edu	37	8	135533180	135533180	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:135533180C>T	ENST00000377838.3	-	13	3354	c.3180G>A	c.(3178-3180)ttG>ttA	p.L1060L	ZFAT_ENST00000523399.1_Silent_p.L998L|ZFAT_ENST00000520356.1_Silent_p.L1048L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Silent_p.L1048L|ZFAT_ENST00000429442.2_Silent_p.L1048L|ZFAT_ENST00000520214.1_Silent_p.L1048L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1060					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTTTGTTCTTCAAGTGCCTAT	0.388																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3142-3144)ttG>ttA		zinc finger and AT hook domain containing							83.0	78.0	79.0					8																	135533180		1858	4108	5966	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533180C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3180G>A	8.37:g.135533180C>T						ZFAT_ENST00000377838.3_Silent_p.L1060L|ZFAT_ENST00000520214.1_Silent_p.L1048L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Silent_p.L998L|ZFAT_ENST00000520356.1_Silent_p.L1048L|ZFAT_ENST00000429442.2_Silent_p.L1048L	p.L1048L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3443	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1060					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.3144G>A	CCDS47924.1																																																																																				0.388	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		12	77	0	0	0	1	0	12	77				
KIF18A	81930	broad.mit.edu	37	11	28045366	28045366	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:28045366C>T	ENST00000263181.6	-	16	2826	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	846					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.V846I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCAGAATTTACGTCTGCAGTT	0.318																																						ENST00000263181.6																			1	Substitution - Missense(1)	p.V846I(1)	kidney(1)	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(2536-2538)Gta>Ata		kinesin family member 18A							131.0	118.0	123.0					11																	28045366		2201	4299	6500	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28045366C>T	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2536G>A	11.37:g.28045366C>T	ENSP00000263181:p.Val846Ile						p.V846I	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			16	2826	-			846					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.2536G>A	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	0.655	-0.808154	0.02819	.	.	ENSG00000121621	ENST00000263181	T	0.72167	-0.63	5.42	0.839	0.18907	.	1.607670	0.03335	N	0.193980	T	0.55513	0.1925	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.17098	0.017	T	0.40440	-0.9563	10	0.35671	T	0.21	.	5.3447	0.16002	0.1289:0.6138:0.1706:0.0867	.	846	Q8NI77	KI18A_HUMAN	I	846	ENSP00000263181:V846I	ENSP00000263181:V846I	V	-	1	0	KIF18A	28001942	0.001000	0.12720	0.005000	0.12908	0.011000	0.07611	0.215000	0.17562	0.339000	0.23719	-1.332000	0.01269	GTA		0.318	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		6	34	0	0	0	1	0	6	34				
OR5K2	402135	broad.mit.edu	37	3	98216771	98216771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:98216771G>C	ENST00000427338.1	+	1	324	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAAAATGTTAGAGAACTTCTT	0.428																																						ENST00000427338.1																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(247-249)Gag>Cag		olfactory receptor, family 5, subfamily K, member 2							157.0	161.0	160.0					3																	98216771		2203	4300	6503	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216771G>C	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.247G>C	3.37:g.98216771G>C	ENSP00000393889:p.Glu83Gln					CLDND1_ENST00000502288.1_3'UTR	p.E83Q	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN			1	324	+			83					B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.247G>C	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.556800	0.00910	.	.	ENSG00000231861	ENST00000427338	T	0.00922	5.54	2.87	-0.187	0.13268	GPCR, rhodopsin-like superfamily (1);	1.267740	0.05793	N	0.610776	T	0.00875	0.0029	L	0.31207	0.915	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.48917	-0.8992	10	0.22109	T	0.4	0.1764	3.9454	0.09346	0.263:0.386:0.351:0.0	.	83	Q8NHB8	OR5K2_HUMAN	Q	83	ENSP00000393889:E83Q	ENSP00000393889:E83Q	E	+	1	0	OR5K2	99699461	0.000000	0.05858	0.168000	0.22838	0.174000	0.22865	-1.600000	0.02083	-0.052000	0.13311	-0.876000	0.02978	GAG		0.428	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2			52	335	0	0	0	1	0	52	335				
PRSS1	5644	broad.mit.edu	37	7	142458443	142458443	+	Silent	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:142458443G>T	ENST00000311737.7	+	2	84	c.78G>T	c.(76-78)ggG>ggT	p.G26G	PRSS1_ENST00000486171.1_Silent_p.G26G	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	26	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AGATCGTTGGGGGCTACAACT	0.542																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(76-78)ggG>ggT		protease, serine, 1 (trypsin 1)							156.0	152.0	154.0					7																	142458443		2203	4300	6503	SO:0001819	synonymous_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458443G>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.78G>T	7.37:g.142458443G>T						PRSS1_ENST00000311737.7_Silent_p.G26G	p.G26G			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	95	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	26			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.78G>T	CCDS5872.1																																																																																				0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			8	304	1	0	2.68362e-12	1	2.996e-12	8	304				
SLC25A37	51312	broad.mit.edu	37	8	23429090	23429090	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:23429090C>T	ENST00000519973.1	+	4	937	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	247					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GGCCGGGGCCCTCGCCGCGGC	0.652																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(739-741)Ctc>Ttc		solute carrier family 25 (mitochondrial iron transporter), member 37							24.0	28.0	27.0					8																	23429090		1908	4108	6016	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429090C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.739C>T	8.37:g.23429090C>T	ENSP00000429200:p.Leu247Phe						p.L247F	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	937	+		Prostate(55;0.114)	247					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.739C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	9.698	1.153718	0.21371	.	.	ENSG00000147454	ENST00000519973	T	0.80033	-1.33	5.8	2.77	0.32553	Mitochondrial carrier domain (2);	0.408876	0.25169	N	0.032601	T	0.64450	0.2599	N	0.25957	0.775	0.45439	D	0.998419	B	0.06786	0.001	B	0.15052	0.012	T	0.58301	-0.7660	10	0.56958	D	0.05	-4.1348	2.6778	0.05085	0.1893:0.4521:0.2575:0.101	.	247	Q9NYZ2	MFRN1_HUMAN	F	247	ENSP00000429200:L247F	ENSP00000429200:L247F	L	+	1	0	SLC25A37	23485035	0.059000	0.20769	0.955000	0.39395	0.963000	0.63663	0.406000	0.21032	0.717000	0.32145	0.650000	0.86243	CTC		0.652	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		13	16	0	0	0	1	0	13	16				
IGF2R	3482	broad.mit.edu	37	6	160430063	160430063	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:160430063C>A	ENST00000356956.1	+	3	459	c.311C>A	c.(310-312)gCa>gAa	p.A104E	AIRN_ENST00000609176.1_RNA|AIRN_ENST00000601203.1_RNA	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	104					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTGAGAAGTGCAACCAGATCT	0.428																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(310-312)gCa>gAa		insulin-like growth factor 2 receptor							120.0	115.0	117.0					6																	160430063		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160430063C>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.311C>A	6.37:g.160430063C>A	ENSP00000349437:p.Ala104Glu						p.A104E	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	3	459	+		Breast(66;0.000777)|Ovarian(120;0.0305)	104					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.311C>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.916499	0.00503	.	.	ENSG00000197081	ENST00000356956	T	0.27557	1.66	5.49	3.72	0.42706	Mannose-6-phosphate receptor, binding (1);	0.900270	0.09686	N	0.769033	T	0.07638	0.0192	L	0.59436	1.845	0.09310	N	1	B	0.29612	0.251	B	0.18263	0.021	T	0.41502	-0.9505	10	0.07325	T	0.83	-13.934	4.0741	0.09895	0.1154:0.3951:0.3904:0.0991	.	104	P11717	MPRI_HUMAN	E	104	ENSP00000349437:A104E	ENSP00000349437:A104E	A	+	2	0	IGF2R	160350053	0.058000	0.20735	0.015000	0.15790	0.024000	0.10985	0.479000	0.22228	0.792000	0.33850	-0.150000	0.13652	GCA		0.428	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		48	44	1	0	2.69774e-35	1	3.3288e-35	48	44				
MYH13	8735	broad.mit.edu	37	17	10253986	10253986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:10253986C>A	ENST00000418404.3	-	11	1194	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	MYH13_ENST00000252172.4_Missense_Mutation_p.S344I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	344	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCCTCTGAGCTGAAGCCCAG	0.493																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1030-1032)aGc>aTc		myosin, heavy chain 13, skeletal muscle							105.0	106.0	106.0					17																	10253986		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10253986C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1031G>T	17.37:g.10253986C>A	ENSP00000404570:p.Ser344Ile					MYH13_ENST00000252172.4_Missense_Mutation_p.S344I|MYH13_ENST00000570743.1_Missense_Mutation_p.S344I	p.S344I			Q9UKX3	MYH13_HUMAN			11	1194	-			344			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1031G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787522	0.49997	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.88277	-2.36	4.15	4.15	0.48705	Myosin head, motor domain (2);	.	.	.	.	D	0.93093	0.7801	M	0.80332	2.49	0.34894	D	0.745823	B	0.21606	0.058	P	0.47941	0.562	D	0.95076	0.8209	9	0.72032	D	0.01	.	10.6297	0.45530	0.0:0.9111:0.0:0.0889	.	344	Q9UKX3	MYH13_HUMAN	I	344;19	ENSP00000252172:S344I	ENSP00000252172:S344I	S	-	2	0	MYH13	10194711	0.158000	0.22850	1.000000	0.80357	0.997000	0.91878	0.448000	0.21726	2.304000	0.77564	0.563000	0.77884	AGC		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		63	20	1	0	4.45325e-31	1	5.36935e-31	63	20				
LLfos-48D6.1	0	broad.mit.edu	37	19	2353005	2353005	+	RNA	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:2353005A>G	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							CCTCCCAAAGACTCTGCCACG	0.657																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							20.0	29.0	26.0					19																	2353005		2059	4191	6250			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2353005A>G																													19.37:g.2353005A>G						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1717	+		Hepatocellular(1079;0.137)							RNA	SNP	ENST00000609490.1	37																																																																																						0.657	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			12	35	0	0	0	1	0	12	35				
IMPG2	50939	broad.mit.edu	37	3	100961637	100961637	+	Missense_Mutation	SNP	G	G	A	rs200993095		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:100961637G>A	ENST00000193391.7	-	14	3104	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	973	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTGACGTTAGGAGGGACAGAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20432	0.0		0.001	False		,,,				2504	0.0					ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2917-2919)Cct>Tct		interphotoreceptor matrix proteoglycan 2							192.0	168.0	176.0					3																	100961637		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961637G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2917C>T	3.37:g.100961637G>A	ENSP00000193391:p.Pro973Ser						p.P973S	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			14	3104	-			973			SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2917C>T	CCDS2940.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.27	2.187483	0.38609	.	.	ENSG00000081148	ENST00000193391	T	0.30182	1.54	5.07	4.19	0.49359	SEA (2);	0.299171	0.27554	N	0.018843	T	0.22322	0.0538	N	0.22421	0.69	0.29700	N	0.840279	B;B	0.30146	0.27;0.166	B;B	0.28916	0.096;0.096	T	0.07558	-1.0766	10	0.29301	T	0.29	-1.864	15.5558	0.76192	0.0:0.1471:0.8529:0.0	.	973;973	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	973	ENSP00000193391:P973S	ENSP00000193391:P973S	P	-	1	0	IMPG2	102444327	0.993000	0.37304	1.000000	0.80357	0.904000	0.53231	3.171000	0.50824	1.250000	0.43966	0.563000	0.77884	CCT		0.428	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			74	102	0	0	0	1	0	74	102				
GNPTAB	79158	broad.mit.edu	37	12	102155466	102155466	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:102155466A>T	ENST00000299314.7	-	14	3053	c.2791T>A	c.(2791-2793)Ttt>Att	p.F931I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	931					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GAATCTGCAAATGTATCTTTT	0.383																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2791-2793)Ttt>Att		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							173.0	165.0	168.0					12																	102155466		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102155466A>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2791T>A	12.37:g.102155466A>T	ENSP00000299314:p.Phe931Ile						p.F931I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			14	3053	-			931					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2791T>A	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329306	0.81690	.	.	ENSG00000111670	ENST00000299314	D	0.91740	-2.9	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.82193	2.58	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96735	0.9542	10	0.87932	D	0	-23.732	16.1309	0.81436	1.0:0.0:0.0:0.0	.	931	Q3T906	GNPTA_HUMAN	I	931	ENSP00000299314:F931I	ENSP00000299314:F931I	F	-	1	0	GNPTAB	100679597	1.000000	0.71417	0.914000	0.36105	0.392000	0.30506	8.962000	0.93254	2.211000	0.71520	0.533000	0.62120	TTT		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			60	74	0	0	0	1	0	60	74				
ZNF233	353355	broad.mit.edu	37	19	44777132	44777132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:44777132C>T	ENST00000391958.2	+	5	446	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	107					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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCTGGCAAATATGGGA	0.338																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(319-321)Caa>Taa		zinc finger protein 233							74.0	79.0	77.0					19																	44777132		2203	4300	6503	SO:0001587	stop_gained	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777132C>T	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.319C>T	19.37:g.44777132C>T	ENSP00000375820:p.Gln107*					ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	p.Q107*	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	446	+		Prostate(69;0.0435)|all_neural(266;0.226)	107					B2RN78|B2RN79|Q86WL8	Nonsense_Mutation	SNP	ENST00000391958.2	37	c.319C>T	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577849	0.65878	.	.	ENSG00000159915	ENST00000391958;ENST00000544563;ENST00000280305	.	.	.	2.27	-0.157	0.13387	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.3494	5.3627	0.16098	0.2096:0.3388:0.4516:0.0	.	.	.	.	X	107;28;28	.	ENSP00000280305:Q28X	Q	+	1	0	ZNF233	49468972	0.000000	0.05858	0.015000	0.15790	0.700000	0.40528	-0.355000	0.07671	0.039000	0.15632	0.407000	0.27541	CAA		0.338	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		9	49	0	0	0	1	0	9	49				
TLR5	7100	broad.mit.edu	37	1	223284381	223284381	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:223284381C>A	ENST00000540964.1	-	4	2454	c.1993G>T	c.(1993-1995)Ggc>Tgc	p.G665C	TLR5_ENST00000342210.6_Missense_Mutation_p.G665C			O60602	TLR5_HUMAN	toll-like receptor 5	665			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAACAGAAGCCCCGGAACTTT	0.448																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1993-1995)Ggc>Tgc		toll-like receptor 5							57.0	64.0	62.0					1																	223284381		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284381C>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1993G>T	1.37:g.223284381C>A	ENSP00000440643:p.Gly665Cys					TLR5_ENST00000342210.6_Missense_Mutation_p.G665C	p.G665C			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2454	-			665		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1993G>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274954	0.59649	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.38077	1.16;1.16;1.16	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.70583	-0.4832	10	0.87932	D	0	.	19.3118	0.94189	0.0:1.0:0.0:0.0	.	665	O60602	TLR5_HUMAN	C	665	ENSP00000440643:G665C;ENSP00000355846:G665C;ENSP00000340089:G665C	ENSP00000340089:G665C	G	-	1	0	TLR5	221351004	1.000000	0.71417	0.947000	0.38551	0.276000	0.26787	4.403000	0.59729	2.553000	0.86117	0.557000	0.71058	GGC		0.448	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		82	26	1	0	1.91593e-42	1	2.37801e-42	82	26				
OR4A5	81318	broad.mit.edu	37	11	51412203	51412203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:51412203A>T	ENST00000319760.6	-	1	245	c.193T>A	c.(193-195)Tca>Aca	p.S65T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCTATAAATGACAGGCAGGCA	0.443																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(193-195)Tca>Aca		olfactory receptor, family 4, subfamily A, member 5							59.0	58.0	59.0					11																	51412203		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412203A>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.193T>A	11.37:g.51412203A>T	ENSP00000367664:p.Ser65Thr						p.S65T	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	245	-		all_lung(304;0.236)	65					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.193T>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	6.662	0.490685	0.12702	.	.	ENSG00000221840	ENST00000319760	T	0.11930	2.73	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000948	T	0.47838	0.1467	H	0.99590	4.645	0.09310	N	1	D	0.67145	0.996	D	0.64595	0.927	T	0.48186	-0.9057	10	0.87932	D	0	.	4.952	0.14019	0.6816:0.3184:0.0:0.0	.	65	Q8NH83	OR4A5_HUMAN	T	65	ENSP00000367664:S65T	ENSP00000367664:S65T	S	-	1	0	OR4A5	51268779	0.001000	0.12720	0.146000	0.22360	0.035000	0.12851	0.359000	0.20233	1.143000	0.42306	0.136000	0.15936	TCA		0.443	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		27	53	0	0	0	1	0	27	53				
PFKL	5211	broad.mit.edu	37	21	45732961	45732961	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr21:45732961C>T	ENST00000349048.4	+	5	583	c.528C>T	c.(526-528)atC>atT	p.I176I	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Silent_p.I223I	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	176	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACATGACCATCGGCACGGACT	0.637																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(667-669)atC>atT		phosphofructokinase, liver							154.0	118.0	130.0					21																	45732961		2203	4300	6503	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732961C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.528C>T	21.37:g.45732961C>T						PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.I176I	p.I223I			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	669	+			176					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.669C>T	CCDS33582.1																																																																																				0.637	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			38	68	0	0	0	1	0	38	68				
WBP4	11193	broad.mit.edu	37	13	41639314	41639314	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:41639314C>T	ENST00000379487.3	+	4	553	c.153C>T	c.(151-153)agC>agT	p.S51S	WBP4_ENST00000542082.1_Silent_p.S30S	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	51					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		AACAGAAAAGCCTGGATAAGG	0.373																																						ENST00000379487.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12						c.(151-153)agC>agT		WW domain binding protein 4							74.0	81.0	78.0					13																	41639314		2203	4300	6503	SO:0001819	synonymous_variant	11193				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding	g.chr13:41639314C>T	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.153C>T	13.37:g.41639314C>T						WBP4_ENST00000542082.1_Silent_p.S30S	p.S51S	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)	4	553	+		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	51					B7Z4M2|Q32P29	Silent	SNP	ENST00000379487.3	37	c.153C>T	CCDS9375.1																																																																																				0.373	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044655.2	NM_007187		15	44	0	0	0	1	0	15	44				
TEX30	93081	broad.mit.edu	37	13	103421818	103421818	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:103421818T>C	ENST00000376032.4	-	3	278	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	TEX30_ENST00000487260.1_5'UTR|TEX30_ENST00000376029.3_Missense_Mutation_p.Y30C|TEX30_ENST00000376027.1_Missense_Mutation_p.Y30C|TEX30_ENST00000376022.1_De_novo_Start_OutOfFrame|TEX30_ENST00000376019.1_De_novo_Start_OutOfFrame|TEX30_ENST00000376021.4_De_novo_Start_OutOfFrame	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	30										lung(1)|urinary_tract(1)	2						AATTATTCCATATGTTAAGCT	0.358																																						ENST00000376019.1																			0				lung(1)|urinary_tract(1)	2								testis expressed 30							75.0	72.0	73.0					13																	103421818		2203	4300	6503	SO:0001583	missense	93081							g.chr13:103421818T>C	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.89A>G	13.37:g.103421818T>C	ENSP00000365200:p.Tyr30Cys					TEX30_ENST00000376029.3_Missense_Mutation_p.Y30C|TEX30_ENST00000376022.1_De_novo_Start_OutOfFrame|TEX30_ENST00000376032.4_Missense_Mutation_p.Y30C|TEX30_ENST00000487260.1_5'UTR|TEX30_ENST00000376021.4_De_novo_Start_OutOfFrame|TEX30_ENST00000376027.1_Missense_Mutation_p.Y30C				Q5JUR7	CM027_HUMAN			0	802	-								Q5JUR8|Q96KZ8	Translation_Start_Site	SNP	ENST00000376032.4	37		CCDS9503.2	.	.	.	.	.	.	.	.	.	.	T	12.47	1.947820	0.34377	.	.	ENSG00000151287	ENST00000376027;ENST00000376032;ENST00000376029	.	.	.	5.98	4.8	0.61643	.	0.198003	0.44483	D	0.000450	T	0.46600	0.1401	L	0.34521	1.04	0.42742	D	0.993746	B	0.21381	0.055	B	0.19391	0.025	T	0.37407	-0.9707	9	0.44086	T	0.13	-15.4063	12.1016	0.53788	0.0:0.0669:0.0:0.933	.	30	Q5JUR7	CM027_HUMAN	C	30	.	ENSP00000365195:Y30C	Y	-	2	0	C13orf27	102219819	0.999000	0.42202	0.991000	0.47740	0.881000	0.50899	3.895000	0.56258	1.084000	0.41184	0.460000	0.39030	TAT		0.358	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		19	9	0	0	0	1	0	19	9				
OR4A5	81318	broad.mit.edu	37	11	51411528	51411528	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:51411528C>G	ENST00000319760.6	-	1	920	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTCTCATCTCTGAATTTCTC	0.343																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(868-870)Gag>Cag		olfactory receptor, family 4, subfamily A, member 5							31.0	33.0	32.0					11																	51411528		2201	4293	6494	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411528C>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.868G>C	11.37:g.51411528C>G	ENSP00000367664:p.Glu290Gln						p.E290Q	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	920	-		all_lung(304;0.236)	290					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.868G>C	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631704	0.29068	.	.	ENSG00000221840	ENST00000319760	T	0.38240	1.15	2.2	2.2	0.27929	.	0.278791	0.25119	N	0.032996	T	0.42268	0.1195	L	0.33710	1.025	0.31153	N	0.705255	D	0.57899	0.981	D	0.65010	0.931	T	0.40213	-0.9575	10	0.42905	T	0.14	.	10.4889	0.44739	0.0:1.0:0.0:0.0	.	290	Q8NH83	OR4A5_HUMAN	Q	290	ENSP00000367664:E290Q	ENSP00000367664:E290Q	E	-	1	0	OR4A5	51268104	0.989000	0.36119	0.041000	0.18516	0.188000	0.23474	3.179000	0.50887	1.554000	0.49487	0.162000	0.16502	GAG		0.343	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		19	17	0	0	0	1	0	19	17				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	172	1	0	0.00198382	1	0.00203197	5	172				
CPLX3	594855	broad.mit.edu	37	15	75122660	75122660	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:75122660C>A	ENST00000395018.4	+	3	599	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	148					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						ACTGGGGGATCTCAAGCAATC	0.607																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(442-444)Ctc>Atc		complexin 3							63.0	50.0	54.0					15																	75122660		2197	4295	6492	SO:0001583	missense	594855					cell junction|synapse	syntaxin binding	g.chr15:75122660C>A	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.442C>A	15.37:g.75122660C>A	ENSP00000378464:p.Leu148Ile					RP11-414J4.2_ENST00000564823.1_RNA	p.L148I	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	599	+			148					D3DW66|Q8TEM6|Q9H818	Missense_Mutation	SNP	ENST00000395018.4	37	c.442C>A	CCDS32294.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831253	0.50845	.	.	ENSG00000213578	ENST00000395018	.	.	.	5.38	3.47	0.39725	.	0.000000	0.64402	U	0.000013	T	0.63177	0.2489	L	0.43152	1.355	0.44067	D	0.996819	D	0.63880	0.993	D	0.76071	0.987	T	0.54675	-0.8258	9	0.14252	T	0.57	-10.426	11.5948	0.50966	0.0:0.8689:0.0:0.1311	.	148	Q8WVH0	CPLX3_HUMAN	I	148	.	ENSP00000378464:L148I	L	+	1	0	CPLX3	72909713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.841000	0.48223	2.529000	0.85273	0.655000	0.94253	CTC		0.607	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		22	20	1	0	7.33628e-21	1	8.74551e-21	22	20				
CGREF1	10669	broad.mit.edu	37	2	27324711	27324711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:27324711C>T	ENST00000260595.5	-	6	680	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	CGREF1_ENST00000402394.1_Missense_Mutation_p.G130R|CGREF1_ENST00000452318.2_Missense_Mutation_p.G34R|CGREF1_ENST00000312734.4_Missense_Mutation_p.G130R|CGREF1_ENST00000404694.3_Missense_Mutation_p.G252R|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G130R			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	130	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCCATCCCCATTCAGGTCC	0.592																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(388-390)Ggg>Agg		cell growth regulator with EF-hand domain 1							84.0	79.0	81.0					2																	27324711		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324711C>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.388G>A	2.37:g.27324711C>T	ENSP00000260595:p.Gly130Arg					CGREF1_ENST00000260595.5_Missense_Mutation_p.G130R|CGREF1_ENST00000405600.1_Missense_Mutation_p.G130R|CGREF1_ENST00000404694.3_Missense_Mutation_p.G252R|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G130R|CGREF1_ENST00000452318.2_Missense_Mutation_p.G34R	p.G130R	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	656	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			EF-hand 2.		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.388G>A		.	.	.	.	.	.	.	.	.	.	C	15.92	2.975010	0.53720	.	.	ENSG00000138028	ENST00000452318;ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;D;D;D;D;D	0.85484	0.58;-1.99;-1.99;-1.99;-1.99;-1.99	5.47	1.13	0.20643	EF-hand-like domain (1);	0.488375	0.23148	N	0.051397	T	0.76644	0.4016	L	0.31371	0.925	0.29186	N	0.876157	P;B;B;B	0.36587	0.559;0.255;0.255;0.129	B;B;B;B	0.44044	0.439;0.157;0.157;0.072	T	0.66436	-0.5924	10	0.12430	T	0.62	-6.5857	8.125	0.30992	0.0:0.6217:0.0:0.3783	.	34;252;130;130	E7EU99;B5MCC9;B5MCP5;Q99674	.;.;.;CGRE1_HUMAN	R	34;130;130;130;130;252;130	ENSP00000395042:G34R;ENSP00000385452:G130R;ENSP00000386113:G130R;ENSP00000324025:G130R;ENSP00000385574:G252R;ENSP00000260595:G130R	ENSP00000260595:G130R	G	-	1	0	CGREF1	27178215	0.003000	0.15002	0.953000	0.39169	0.991000	0.79684	-0.330000	0.07925	0.303000	0.22785	0.462000	0.41574	GGG		0.592	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		53	55	0	0	0	1	0	53	55				
ZNF429	353088	broad.mit.edu	37	19	21712542	21712542	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:21712542A>G	ENST00000358491.4	+	2	294	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Missense_Mutation_p.Y29C	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	29	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAGAACTTATATAGAAATGTG	0.408																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(85-87)tAt>tGt		zinc finger protein 429							108.0	120.0	116.0					19																	21712542		2203	4299	6502	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21712542A>G	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.86A>G	19.37:g.21712542A>G	ENSP00000351280:p.Tyr29Cys					ZNF429_ENST00000597078.1_Missense_Mutation_p.Y29C|ZNF429_ENST00000594022.1_3'UTR	p.Y29C	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			2	294	+			29			KRAB.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.86A>G	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	10.00	1.233112	0.22626	.	.	ENSG00000197013	ENST00000358491	T	0.07021	3.23	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.39226	0.1070	H	0.98111	4.15	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15492	-1.0435	9	0.87932	D	0	.	6.7513	0.23489	1.0:0.0:0.0:0.0	.	29	Q86V71	ZN429_HUMAN	C	29	ENSP00000351280:Y29C	ENSP00000351280:Y29C	Y	+	2	0	ZNF429	21504382	0.006000	0.16342	0.573000	0.28510	0.570000	0.35934	1.356000	0.34079	0.263000	0.21812	0.260000	0.18958	TAT		0.408	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		116	124	0	0	0	1	0	116	124				
PDGFRL	5157	broad.mit.edu	37	8	17491707	17491707	+	Silent	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:17491707C>A	ENST00000541323.1	+	6	1369	c.924C>A	c.(922-924)atC>atA	p.I308I	PDGFRL_ENST00000398074.3_Silent_p.I308I|PDGFRL_ENST00000523248.1_3'UTR|PDGFRL_ENST00000251630.6_Silent_p.I308I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	308	Ig-like C2-type 2.				G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TCACCTGGATCTTCCCAGGGC	0.547																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(922-924)atC>atA		platelet-derived growth factor receptor-like							149.0	143.0	145.0					8																	17491707		2203	4300	6503	SO:0001819	synonymous_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17491707C>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.924C>A	8.37:g.17491707C>A						PDGFRL_ENST00000251630.6_Silent_p.I308I|PDGFRL_ENST00000398074.3_Silent_p.I308I|PDGFRL_ENST00000523248.1_3'UTR	p.I308I	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	6	1369	+			308			Ig-like C2-type 2.		A8K085|Q6FH04	Silent	SNP	ENST00000541323.1	37	c.924C>A	CCDS6003.1																																																																																				0.547	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		26	63	1	0	1.42536e-11	1	1.56641e-11	26	63				
SYNE1	23345	broad.mit.edu	37	6	152510425	152510425	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:152510425C>G	ENST00000367255.5	-	128	23864	c.23263G>C	c.(23263-23265)Gag>Cag	p.E7755Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E7367Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2279Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7755Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7684Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7755					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAGAAGCTCTACGCGTTCA	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(23263-23265)Gag>Cag		spectrin repeat containing, nuclear envelope 1							147.0	137.0	140.0					6																	152510425		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152510425C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23263G>C	6.37:g.152510425C>G	ENSP00000356224:p.Glu7755Gln	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7367Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2279Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7755Q	p.E7755Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	128	23864	-		Ovarian(120;0.0955)	7755					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.23263G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548751	0.45383	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000020	T	0.21881	0.0527	L	0.59436	1.845	0.58432	D	0.999999	B;B;B;B	0.33826	0.195;0.195;0.427;0.301	B;B;B;B	0.27715	0.038;0.038;0.082;0.038	T	0.03017	-1.1082	10	0.40728	T	0.16	.	14.6024	0.68450	0.0:0.931:0.0:0.069	.	7755;7755;7684;7684	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Q	7755;401;7684;7755;7684;7367;2279;677	ENSP00000356224:E7755Q;ENSP00000356226:E401Q;ENSP00000396024:E7684Q;ENSP00000265368:E7755Q;ENSP00000390975:E7684Q;ENSP00000341887:E7367Q;ENSP00000349276:E2279Q;ENSP00000356220:E677Q	ENSP00000265368:E7755Q	E	-	1	0	SYNE1	152552118	0.999000	0.42202	0.977000	0.42913	0.891000	0.51852	3.983000	0.56916	2.840000	0.97914	0.655000	0.94253	GAG		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	79	0	0	0	1	0	32	79				
CCDC47	57003	broad.mit.edu	37	17	61843401	61843401	+	Silent	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:61843401G>T	ENST00000225726.5	-	2	517	c.135C>A	c.(133-135)gtC>gtA	p.V45V	CCDC47_ENST00000403162.3_Silent_p.V45V|CCDC47_ENST00000582252.1_Silent_p.V45V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	45					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTCTTCCATGACATCCTCAA	0.433																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(133-135)gtC>gtA		coiled-coil domain containing 47							204.0	186.0	192.0					17																	61843401		2203	4300	6503	SO:0001819	synonymous_variant	57003					integral to membrane	protein binding	g.chr17:61843401G>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.135C>A	17.37:g.61843401G>T						CCDC47_ENST00000582252.1_Silent_p.V45V|CCDC47_ENST00000403162.3_Silent_p.V45V	p.V45V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			2	517	-			45					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Silent	SNP	ENST00000225726.5	37	c.135C>A	CCDS11643.1																																																																																				0.433	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		123	157	1	0	1.84576e-31	1	2.23825e-31	123	157				
MTHFD1	4522	broad.mit.edu	37	14	64908855	64908855	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:64908855C>G	ENST00000545908.1	+	20	2365	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L	MTHFD1_ENST00000216605.8_Silent_p.L656L|CTD-2555O16.4_ENST00000609125.1_RNA|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	656	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGATCGCACTCAAGCTTGTTG	0.478																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(1966-1968)ctC>ctG		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						125.0	110.0	115.0					14																	64908855		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64908855C>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2136C>G	14.37:g.64908855C>G						MTHFD1_ENST00000545908.1_Silent_p.L712L|MTHFD1_ENST00000216605.7_Silent_p.L712L|CTD-2555O16.2_ENST00000556640.1_RNA	p.L656L	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	20	2355	+			656			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.1968C>G																																																																																					0.478	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			50	58	0	0	0	1	0	50	58				
PRKDC	5591	broad.mit.edu	37	8	48809798	48809798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:48809798G>C	ENST00000314191.2	-	30	3577	c.3521C>G	c.(3520-3522)gCt>gGt	p.A1174G	PRKDC_ENST00000338368.3_Missense_Mutation_p.A1174G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1174					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCCACAATGAGCTAAAAGCCA	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(3520-3522)gCt>gGt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							202.0	195.0	197.0					8																	48809798		1895	4120	6015	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48809798G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3521C>G	8.37:g.48809798G>C	ENSP00000313420:p.Ala1174Gly					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1174G	p.A1174G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			30	3577	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1174					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3521C>G		.	.	.	.	.	.	.	.	.	.	G	7.513	0.655045	0.14580	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64618	-0.11;-0.11	5.46	4.53	0.55603	Armadillo-like helical (1);Armadillo-type fold (1);	0.283721	0.34435	N	0.003971	T	0.39627	0.1085	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.07597	-1.0764	9	0.20519	T	0.43	.	4.8904	0.13724	0.0845:0.1491:0.6125:0.1539	.	1174;1174	E7EUY0;P78527	.;PRKDC_HUMAN	G	1174	ENSP00000313420:A1174G;ENSP00000345182:A1174G	ENSP00000313420:A1174G	A	-	2	0	PRKDC	48972351	0.008000	0.16893	0.011000	0.14972	0.604000	0.37047	1.460000	0.35244	2.572000	0.86782	0.563000	0.77884	GCT		0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		131	102	0	0	0	1	0	131	102				
WWP1	11059	broad.mit.edu	37	8	87393860	87393860	+	Splice_Site	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:87393860T>A	ENST00000517970.1	+	5	641		c.e5+2		WWP1_ENST00000523863.1_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATAGAAAATGTAAGTTTTTTG	0.299																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.e5+2		WW domain containing E3 ubiquitin protein ligase 1							44.0	47.0	46.0					8																	87393860		2203	4300	6503	SO:0001630	splice_region_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87393860T>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.334+2T>A	8.37:g.87393860T>A						WWP1_ENST00000523863.1_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000349423.2_Intron		NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			5	641	+								O00307|Q5YLC1|Q96BP4	Splice_Site	SNP	ENST00000517970.1	37		CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423857	0.62733	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.217	0.65800	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWP1	87462976	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.092000	0.76930	1.820000	0.53075	0.383000	0.25322	.		0.299	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	Intron	16	20	0	0	0	1	0	16	20				
NSDHL	50814	broad.mit.edu	37	X	152037563	152037563	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:152037563G>C	ENST00000370274.3	+	8	1219	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	NSDHL_ENST00000440023.1_Missense_Mutation_p.R342T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	342					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCGAGAGAGCCAAAAAG	0.587																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(1024-1026)aGa>aCa		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						65.0	51.0	56.0					X																	152037563		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037563G>C	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.1025G>C	X.37:g.152037563G>C	ENSP00000359297:p.Arg342Thr					NSDHL_ENST00000440023.1_Missense_Mutation_p.R342T	p.R342T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1219	+	Acute lymphoblastic leukemia(192;6.56e-05)		342					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.1025G>C	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786769	0.31593	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.89415	-2.51;-2.51	4.12	-0.935	0.10423	.	0.199214	0.47093	D	0.000259	D	0.84602	0.5508	M	0.81497	2.545	0.38577	D	0.950098	P	0.37914	0.611	B	0.29524	0.103	T	0.77925	-0.2405	10	0.72032	D	0.01	-41.1672	8.1717	0.31258	0.5565:0.0:0.4435:0.0	.	342	Q15738	NSDHL_HUMAN	T	342	ENSP00000359297:R342T;ENSP00000391854:R342T	ENSP00000359297:R342T	R	+	2	0	NSDHL	151788219	0.148000	0.22702	0.012000	0.15200	0.599000	0.36880	1.150000	0.31639	-0.508000	0.06540	-0.296000	0.09543	AGA		0.587	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		20	5	0	0	0	1	0	20	5				
NDST3	9348	broad.mit.edu	37	4	119148130	119148130	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:119148130G>C	ENST00000296499.5	+	8	2215	c.1812G>C	c.(1810-1812)caG>caC	p.Q604H	NDST3_ENST00000433996.2_Missense_Mutation_p.Q523H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	604	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAGGACCCCAGAAAACTGGTG	0.363																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1810-1812)caG>caC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							64.0	69.0	67.0					4																	119148130		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119148130G>C	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1812G>C	4.37:g.119148130G>C	ENSP00000296499:p.Gln604His					NDST3_ENST00000433996.2_Missense_Mutation_p.Q523H	p.Q604H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			8	2215	+			604			Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1812G>C	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572345	0.65765	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.57107	0.42;0.42	5.2	4.36	0.52297	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	H	0.94582	3.555	0.34387	D	0.693739	D;D	0.69078	0.997;0.985	P;P	0.62089	0.898;0.799	D	0.84697	0.0726	10	0.87932	D	0	.	8.6443	0.33996	0.2326:0.0:0.7674:0.0	.	523;604	B4DI67;O95803	.;NDST3_HUMAN	H	604;523	ENSP00000296499:Q604H;ENSP00000396625:Q523H	ENSP00000296499:Q604H	Q	+	3	2	NDST3	119367578	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.053000	0.57427	1.300000	0.44818	0.491000	0.48974	CAG		0.363	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		15	64	0	0	0	1	0	15	64				
PEX19	5824	broad.mit.edu	37	1	160251977	160251977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:160251977G>A	ENST00000368072.5	-	5	467	c.446C>T	c.(445-447)tCg>tTg	p.S149L	DCAF8_ENST00000556710.1_Missense_Mutation_p.S2L|DCAF8_ENST00000608310.1_Missense_Mutation_p.S2L|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.S59L	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	149					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTCTTCCGACATGCTGGA	0.493																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(445-447)tCg>tTg		peroxisomal biogenesis factor 19							103.0	93.0	96.0					1																	160251977		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160251977G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.446C>T	1.37:g.160251977G>A	ENSP00000357051:p.Ser149Leu					PEX19_ENST00000440949.3_Missense_Mutation_p.S59L|DCAF8_ENST00000556710.1_Missense_Mutation_p.S2L|PEX19_ENST00000532508.1_5'UTR	p.S149L	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		5	467	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.446C>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081569	0.55753	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.68624	-0.34;-0.34	5.38	5.38	0.77491	.	0.060000	0.64402	D	0.000002	T	0.60261	0.2255	L	0.31578	0.945	0.47308	D	0.999385	P;D	0.67145	0.953;0.996	B;P	0.58331	0.256;0.837	T	0.62120	-0.6921	10	0.41790	T	0.15	-7.6663	14.251	0.66019	0.0:0.1501:0.8499:0.0	.	2;149	G3V3G9;P40855	.;PEX19_HUMAN	L	2;2;19;149;129;59;129	ENSP00000451989:S2L;ENSP00000451235:S2L	ENSP00000357051:S149L	S	-	2	0	RP11-574F21.3;PEX19;DCAF8	158518601	1.000000	0.71417	0.997000	0.53966	0.253000	0.25986	6.277000	0.72608	2.524000	0.85096	0.563000	0.77884	TCG		0.493	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		12	65	0	0	0	1	0	12	65				
ISM1	140862	broad.mit.edu	37	20	13260526	13260526	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:13260526C>G	ENST00000262487.4	+	3	630	c.624C>G	c.(622-624)acC>acG	p.T208T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	208						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTTTTGAAACCAAAGATCAGC	0.498																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(622-624)acC>acG		isthmin 1, angiogenesis inhibitor							39.0	42.0	41.0					20																	13260526		1880	4107	5987	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13260526C>G	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.624C>G	20.37:g.13260526C>G						TASP1_ENST00000539805.1_Intron	p.T208T	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			3	630	+			208					Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.624C>G	CCDS46579.1																																																																																				0.498	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			16	33	0	0	0	1	0	16	33				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					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.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	21	0	0	0	1	0	3	21				
PDE3A	5139	broad.mit.edu	37	12	20522856	20522856	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:20522856T>A	ENST00000359062.3	+	1	678	c.638T>A	c.(637-639)cTc>cAc	p.L213H	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	213					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGGGCGTCCTCATGATCGCC	0.647																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(637-639)cTc>cAc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						28.0	31.0	30.0					12																	20522856		2201	4300	6501	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522856T>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.638T>A	12.37:g.20522856T>A	ENSP00000351957:p.Leu213His					RP11-284H19.1_ENST00000535755.1_RNA	p.L213H	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	678	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	213					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.638T>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539166	0.65085	.	.	ENSG00000172572	ENST00000359062	T	0.68765	-0.35	4.45	3.28	0.37604	.	2.128780	0.01709	N	0.027592	T	0.69682	0.3138	L	0.54323	1.7	0.34238	D	0.677319	P	0.51791	0.948	P	0.46362	0.514	T	0.60762	-0.7199	10	0.87932	D	0	.	8.7457	0.34585	0.0:0.0981:0.0:0.9019	.	213	Q14432	PDE3A_HUMAN	H	213	ENSP00000351957:L213H	ENSP00000351957:L213H	L	+	2	0	PDE3A	20414123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.153000	0.64888	0.833000	0.34828	0.454000	0.30748	CTC		0.647	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			19	56	0	0	0	1	0	19	56				
GNPTAB	79158	broad.mit.edu	37	12	102158621	102158621	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:102158621C>G	ENST00000299314.7	-	13	2336	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	692					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATTTTCACCTCTTCCTGGGCT	0.428																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2074-2076)Gag>Cag		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							55.0	58.0	57.0					12																	102158621		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158621C>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2074G>C	12.37:g.102158621C>G	ENSP00000299314:p.Glu692Gln						p.E692Q	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2336	-			692					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2074G>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	7.011	0.556880	0.13436	.	.	ENSG00000111670	ENST00000299314	D	0.96334	-3.98	5.95	2.65	0.31530	.	0.439500	0.26341	N	0.024939	D	0.90109	0.6910	N	0.24115	0.695	0.19575	N	0.999965	B	0.31125	0.309	B	0.19391	0.025	T	0.81782	-0.0775	10	0.33141	T	0.24	-14.7307	10.1909	0.43026	0.0:0.6564:0.2548:0.0888	.	692	Q3T906	GNPTA_HUMAN	Q	692	ENSP00000299314:E692Q	ENSP00000299314:E692Q	E	-	1	0	GNPTAB	100682752	0.000000	0.05858	0.229000	0.23960	0.224000	0.24922	0.055000	0.14229	0.795000	0.33922	0.650000	0.86243	GAG		0.428	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			28	46	0	0	0	1	0	28	46				
ENAM	10117	broad.mit.edu	37	4	71509442	71509442	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:71509442G>A	ENST00000396073.3	+	9	2580	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	767			D -> G (in dbSNP:rs3796705).		amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATTCCTGGGACCACAGGAT	0.478																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2299-2301)Gac>Aac		enamelin							59.0	62.0	61.0					4																	71509442		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509442G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2299G>A	4.37:g.71509442G>A	ENSP00000379383:p.Asp767Asn					ENAM_ENST00000472903.1_Intron	p.D767N	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2580	+			767		D -> G (in dbSNP:rs3796705).			Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2299G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597221	0.66332	.	.	ENSG00000132464	ENST00000396073	T	0.41065	1.01	6.01	4.28	0.50868	.	0.310551	0.27996	N	0.017007	T	0.64294	0.2585	M	0.86651	2.83	0.33060	D	0.533902	D	0.76494	0.999	D	0.70016	0.967	T	0.74478	-0.3652	10	0.72032	D	0.01	-6.6755	7.7806	0.29062	0.0818:0.0:0.757:0.1612	.	767	Q9NRM1	ENAM_HUMAN	N	767	ENSP00000379383:D767N	ENSP00000379383:D767N	D	+	1	0	ENAM	71728306	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.613000	0.46351	0.855000	0.35359	0.655000	0.94253	GAC		0.478	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		49	65	0	0	0	1	0	49	65				
DISP1	84976	broad.mit.edu	37	1	223178942	223178942	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:223178942G>C	ENST00000284476.6	+	8	4367	c.4203G>C	c.(4201-4203)tcG>tcC	p.S1401S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1401					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCACTGGATCGTTACTCAAAA	0.458																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4201-4203)tcG>tcC		dispatched homolog 1 (Drosophila)							73.0	76.0	75.0					1																	223178942		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178942G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4203G>C	1.37:g.223178942G>C							p.S1401S	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4367	+			1401					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.4203G>C	CCDS1536.1																																																																																				0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		17	66	0	0	0	1	0	17	66				
GRID1	2894	broad.mit.edu	37	10	87407012	87407012	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:87407012T>G	ENST00000327946.7	-	13	2225	c.2140A>C	c.(2140-2142)Aag>Cag	p.K714Q	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.K285Q|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	714					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTCCGTTCTTGCTGATGGTC	0.592										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2140-2142)Aag>Cag		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						251.0	230.0	237.0					10																	87407012		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407012T>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2140A>C	10.37:g.87407012T>G	ENSP00000330148:p.Lys714Gln	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.K285Q|RP11-93H12.4_ENST00000474115.2_RNA	p.K714Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2225	-			714					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2140A>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178330	0.57692	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.23147	1.92;1.92	5.7	5.7	0.88788	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.044141	0.85682	D	0.000000	T	0.27027	0.0662	L	0.47078	1.49	0.58432	D	0.999997	B	0.17268	0.021	B	0.17722	0.019	T	0.03148	-1.1067	10	0.72032	D	0.01	.	15.1462	0.72653	0.0:0.0:0.0:1.0	.	714	Q9ULK0	GRID1_HUMAN	Q	714;285	ENSP00000330148:K714Q;ENSP00000444455:K285Q	ENSP00000330148:K714Q	K	-	1	0	GRID1	87396992	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.811000	0.62606	2.175000	0.68902	0.528000	0.53228	AAG		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		161	213	0	0	0	1	0	161	213				
FAT1	2195	broad.mit.edu	37	4	187518091	187518091	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:187518091G>C	ENST00000441802.2	-	25	12812	c.12603C>G	c.(12601-12603)ctC>ctG	p.L4201L	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4201					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						TCTTACGGCAGAGAACAAACA	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			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.(12601-12603)ctC>ctG		FAT atypical cadherin 1							107.0	106.0	106.0					4																	187518091		1921	4124	6045	SO:0001819	synonymous_variant	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.chr4:187518091G>C	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.12603C>G	4.37:g.187518091G>C		HNSCC(5;0.00058)					p.L4201L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			25	12812	-			4201						Silent	SNP	ENST00000441802.2	37	c.12603C>G	CCDS47177.1																																																																																				0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		29	97	0	0	0	1	0	29	97				
OVOS2	144203	broad.mit.edu	37	12	31267773	31267773	+	RNA	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:31267773C>T	ENST00000542490.1	-	0	754																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						TTATTTACCTCTTCAATGGAT	0.313																																						ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41															41.0	48.0	46.0					12																	31267773		1792	4051	5843			144203							g.chr12:31267773C>T																													12.37:g.31267773C>T														0	754	-									RNA	SNP	ENST00000542490.1	37																																																																																						0.313	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			16	11	0	0	0	1	0	16	11				
FANCL	55120	broad.mit.edu	37	2	58431263	58431263	+	Splice_Site	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:58431263A>T	ENST00000233741.4	-	6	508		c.e6+1		FANCL_ENST00000403676.1_Splice_Site|FANCL_ENST00000403295.3_Splice_Site|FANCL_ENST00000402135.3_Splice_Site|FANCL_ENST00000540646.1_Intron	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CGAGGCACATACCTTTGCCTT	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.e6+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							114.0	108.0	110.0					2																	58431263		2203	4300	6503	SO:0001630	splice_region_variant	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58431263A>T	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.471+1T>A	2.37:g.58431263A>T						FANCL_ENST00000403676.1_Splice_Site|FANCL_ENST00000403295.3_Splice_Site|FANCL_ENST00000540646.1_Intron|FANCL_ENST00000233741.4_Splice_Site		NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			6	508	-								Q6GU60	Splice_Site	SNP	ENST00000233741.4	37		CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868664	0.72065	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000427708;ENST00000417361	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7562	0.62937	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FANCL	58284767	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.363000	0.73082	2.302000	0.77476	0.533000	0.62120	.		0.368	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062	Intron	32	32	0	0	0	1	0	32	32				
PDE4DIP	9659	broad.mit.edu	37	1	144916643	144916643	+	Missense_Mutation	SNP	C	C	A	rs141467460	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:144916643C>A	ENST00000369354.3	-	13	1901	c.1712G>T	c.(1711-1713)cGt>cTt	p.R571L	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R708L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R708L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R637L|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R734L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R734L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R358L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	571					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCTGCCAACGGCTAAATTT	0.448			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(2200-2202)cGt>cTt		phosphodiesterase 4D interacting protein							572.0	600.0	591.0					1																	144916643		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144916643C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1712G>T	1.37:g.144916643C>A	ENSP00000358360:p.Arg571Leu					PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R734L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R637L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R358L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R708L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R571L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R708L	p.R734L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	9	2640	-			571					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.2201G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	c	19.01	3.743107	0.69418	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.64260	4.5;4.58;4.58;4.61;4.6;3.59;3.59;2.58;2.59;-0.09	5.83	-1.95	0.07548	.	.	.	.	.	T	0.53433	0.1796	L	0.43923	1.385	0.36407	D	0.863465	P;P;B;P;D;B	0.58970	0.553;0.603;0.082;0.603;0.984;0.292	B;B;B;B;P;B	0.59357	0.24;0.328;0.065;0.226;0.856;0.085	T	0.59445	-0.7453	9	0.56958	D	0.05	.	11.6675	0.51383	0.0:0.5245:0.0:0.4755	.	734;358;571;734;637;571	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	L	637;571;571;734;708;708;571;571;734;734;358	ENSP00000327209:R637L;ENSP00000358360:R571L;ENSP00000358363:R571L;ENSP00000435654:R708L;ENSP00000358366:R708L;ENSP00000358357:R571L;ENSP00000358355:R571L;ENSP00000316434:R734L;ENSP00000433392:R734L;ENSP00000436791:R358L	ENSP00000327209:R637L	R	-	2	0	PDE4DIP	143628000	0.659000	0.27411	0.379000	0.26080	0.873000	0.50193	0.019000	0.13444	-0.268000	0.09312	-1.201000	0.01664	CGT		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		197	620	1	0	3.18325e-104	1	3.99801e-104	197	620				
PNLIPRP3	119548	broad.mit.edu	37	10	118231356	118231356	+	Silent	SNP	G	G	C	rs386747984|rs570647002	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:118231356G>C	ENST00000369230.3	+	10	1283	c.1137G>C	c.(1135-1137)ggG>ggC	p.G379G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	379	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTGTAGGCGGGGCAGTTAGGA	0.478																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1135-1137)ggG>ggC		pancreatic lipase-related protein 3							143.0	151.0	148.0					10																	118231356		2203	4300	6503	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231356G>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1137G>C	10.37:g.118231356G>C							p.G379G	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1283	+			379			PLAT.			Silent	SNP	ENST00000369230.3	37	c.1137G>C	CCDS31292.1																																																																																				0.478	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		13	148	0	0	0	1	0	13	148				
LRP8	7804	broad.mit.edu	37	1	53742373	53742373	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:53742373C>T	ENST00000306052.6	-	5	975	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	LRP8_ENST00000347547.2_Intron|LRP8_ENST00000371454.2_Missense_Mutation_p.A292T|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	292	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CGGCAGTCGGCCTCGTCCGAT	0.687																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(874-876)Gcc>Acc		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							9.0	6.0	7.0					1																	53742373		1782	3565	5347	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53742373C>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.874G>A	1.37:g.53742373C>T	ENSP00000303634:p.Ala292Thr					LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Missense_Mutation_p.A292T|LRP8_ENST00000354412.3_Intron	p.A292T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			5	975	-			292			LDL-receptor class A 6.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.874G>A	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579781	0.46006	.	.	ENSG00000157193	ENST00000306052;ENST00000371454	D;D	0.95588	-3.75;-3.75	3.97	3.97	0.46021	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	.	.	.	.	D	0.88415	0.6430	L	0.35341	1.055	0.80722	D	1	P;B	0.36535	0.557;0.051	B;B	0.31101	0.124;0.042	D	0.84133	0.0413	9	0.13470	T	0.59	.	6.281	0.21007	0.0:0.6311:0.2626:0.1063	.	292;292	Q14114-3;Q14114	.;LRP8_HUMAN	T	292	ENSP00000303634:A292T;ENSP00000360509:A292T	ENSP00000303634:A292T	A	-	1	0	LRP8	53514961	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	1.081000	0.30791	2.041000	0.60428	0.462000	0.41574	GCC		0.687	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		7	4	0	0	0	1	0	7	4				
ST3GAL2	6483	broad.mit.edu	37	16	70415748	70415748	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:70415748G>C	ENST00000393640.4	-	6	3004	c.897C>G	c.(895-897)ttC>ttG	p.F299L	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.F299L			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	299					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TGTCGGCCCCGAACCCGTACA	0.701																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(895-897)ttC>ttG		ST3 beta-galactoside alpha-2,3-sialyltransferase 2							67.0	65.0	66.0					16																	70415748		2198	4300	6498	SO:0001583	missense	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70415748G>C	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.897C>G	16.37:g.70415748G>C	ENSP00000377257:p.Phe299Leu					RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.F299L	p.F299L			Q16842	SIA4B_HUMAN			6	3004	-		Ovarian(137;0.0694)	299					O00654	Missense_Mutation	SNP	ENST00000393640.4	37	c.897C>G	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021444	0.93462	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.63744	-0.06;-0.06	6.08	3.1	0.35709	.	0.094927	0.85682	D	0.000000	T	0.77922	0.4203	M	0.88906	2.99	0.50467	D	0.999877	D	0.61080	0.989	P	0.61874	0.895	T	0.80450	-0.1377	10	0.87932	D	0	-10.2279	10.0791	0.42379	0.3112:0.0:0.6888:0.0	.	299	Q16842	SIA4B_HUMAN	L	299	ENSP00000345477:F299L;ENSP00000377257:F299L	ENSP00000345477:F299L	F	-	3	2	ST3GAL2	68973249	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.232000	0.17891	0.913000	0.36797	0.591000	0.81541	TTC		0.701	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		32	205	0	0	0	1	0	32	205				
SOD2	6648	broad.mit.edu	37	6	160113793	160113793	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:160113793G>A	ENST00000444946.2	-	2	199	c.126C>T	c.(124-126)atC>atT	p.I42I	SOD2_ENST00000452684.2_Silent_p.I42I|SOD2_ENST00000538183.2_Silent_p.I42I|SOD2_ENST00000367055.4_Silent_p.I42I|SOD2_ENST00000367054.2_Silent_p.I42I|SOD2_ENST00000546087.1_5'UTR|SOD2_ENST00000337404.4_Silent_p.I42I			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	42					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TCTGCGCGTTGATGTGAGGTT	0.627																																						ENST00000538183.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14						c.(124-126)atC>atT		superoxide dismutase 2, mitochondrial							135.0	114.0	121.0					6																	160113793		2203	4300	6503	SO:0001819	synonymous_variant	6648				age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	g.chr6:160113793G>A	M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000444946.2:c.126C>T	6.37:g.160113793G>A						SOD2_ENST00000337404.4_Silent_p.I42I|SOD2_ENST00000367054.2_Silent_p.I42I|SOD2_ENST00000452684.2_Silent_p.I42I|SOD2_ENST00000367055.4_Silent_p.I42I|SOD2_ENST00000546087.1_5'UTR|SOD2_ENST00000444946.2_Silent_p.I42I	p.I42I	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)	2	286	-		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)	42					B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Silent	SNP	ENST00000444946.2	37	c.126C>T																																																																																					0.627	SOD2-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399944.1	NM_000636		19	37	0	0	0	1	0	19	37				
MAST3	23031	broad.mit.edu	37	19	18258344	18258344	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:18258344T>A	ENST00000262811.6	+	26	3304	c.3304T>A	c.(3304-3306)Tcc>Acc	p.S1102T	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1102	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCACTGTCATCCAGTGAGAG	0.642																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(3304-3306)Tcc>Acc		microtubule associated serine/threonine kinase 3							19.0	22.0	21.0					19																	18258344		2072	4211	6283	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18258344T>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3304T>A	19.37:g.18258344T>A	ENSP00000262811:p.Ser1102Thr					AC007192.6_ENST00000600364.1_RNA	p.S1102T	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			26	3304	+			1102			Ser-rich.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.3304T>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752140	0.89753	.	.	ENSG00000099308	ENST00000262811	T	0.39056	1.1	4.27	4.27	0.50696	.	0.133396	0.52532	D	0.000076	T	0.64538	0.2607	M	0.84683	2.71	0.53005	D	0.999966	D	0.69078	0.997	D	0.63703	0.917	T	0.71567	-0.4554	10	0.72032	D	0.01	-29.8787	12.8638	0.57928	0.0:0.0:0.0:1.0	.	1102	O60307	MAST3_HUMAN	T	1102	ENSP00000262811:S1102T	ENSP00000262811:S1102T	S	+	1	0	MAST3	18119344	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	6.083000	0.71326	1.698000	0.51180	0.402000	0.26972	TCC		0.642	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		11	10	0	0	0	1	0	11	10				
ADAM11	4185	broad.mit.edu	37	17	42854927	42854927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:42854927G>T	ENST00000200557.6	+	22	2028	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I	ADAM11_ENST00000535346.1_Missense_Mutation_p.S420I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	620	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGAGACATCAGTAGTGTCACC	0.592																																						ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1858-1860)aGt>aTt		ADAM metallopeptidase domain 11							101.0	98.0	99.0					17																	42854927		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42854927G>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1859G>T	17.37:g.42854927G>T	ENSP00000200557:p.Ser620Ile					ADAM11_ENST00000535346.1_Missense_Mutation_p.S420I	p.S620I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			22	2028	+		Prostate(33;0.0959)	620			Cys-rich.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1859G>T	CCDS11486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.55|10.55	1.382741|1.382741	0.25031|0.25031	.|.	.|.	ENSG00000073670|ENSG00000073670	ENST00000355638|ENST00000200557;ENST00000535346	.|T;T	.|0.02258	.|4.37;4.77	4.8|4.8	1.58|1.58	0.23477|0.23477	.|ADAM, cysteine-rich (2);	.|0.171982	.|0.49916	.|D	.|0.000131	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.01086|0.01086	-1.025|-1.025	0.32281|0.32281	N|N	0.56754|0.56754	.|B;B	.|0.14012	.|0.002;0.009	.|B;B	.|0.18263	.|0.01;0.021	T|T	0.33420|0.33420	-0.9869|-0.9869	6|10	0.87932|0.36615	D|T	0|0.2	.|.	6.2092|6.2092	0.20619|0.20619	0.1772:0.4283:0.3945:0.0|0.1772:0.4283:0.3945:0.0	.|.	.|420;620	.|B4DKD2;O75078	.|.;ADA11_HUMAN	H|I	523|620;420	.|ENSP00000200557:S620I;ENSP00000443773:S420I	ENSP00000347856:Q523H|ENSP00000200557:S620I	Q|S	+|+	3|2	2|0	ADAM11|ADAM11	40210453|40210453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	1.709000|1.709000	0.37909|0.37909	0.518000|0.518000	0.28383|0.28383	0.561000|0.561000	0.74099|0.74099	CAG|AGT		0.592	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		81	115	1	0	5.04879e-28	1	6.05281e-28	81	115				
ZBBX	79740	broad.mit.edu	37	3	167077706	167077706	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:167077706C>G	ENST00000392766.2	-	8	724	c.384G>C	c.(382-384)aaG>aaC	p.K128N	ZBBX_ENST00000392764.1_Missense_Mutation_p.K99N|ZBBX_ENST00000455345.2_Missense_Mutation_p.K128N|ZBBX_ENST00000392767.2_Missense_Mutation_p.K128N|ZBBX_ENST00000307529.5_Missense_Mutation_p.K128N|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCCCATTTATCTTGGGTTTTT	0.303																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(382-384)aaG>aaC		zinc finger, B-box domain containing							139.0	130.0	133.0					3																	167077706		1812	4073	5885	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167077706C>G	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.384G>C	3.37:g.167077706C>G	ENSP00000376519:p.Lys128Asn					ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.K128N|ZBBX_ENST00000307529.5_Missense_Mutation_p.K128N|ZBBX_ENST00000455345.2_Missense_Mutation_p.K128N|ZBBX_ENST00000392764.1_Missense_Mutation_p.K99N	p.K128N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			8	724	-			128					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.384G>C	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838587	0.51057	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764;ENST00000474464	T;T;T;T;T;T	0.35236	2.72;2.72;2.72;2.72;2.54;1.32	5.65	3.77	0.43336	.	0.000000	0.33235	U	0.005139	T	0.32615	0.0835	L	0.57536	1.79	0.22620	N	0.998928	P;B	0.35348	0.496;0.363	B;B	0.38264	0.269;0.138	T	0.31024	-0.9958	10	0.59425	D	0.04	-8.1692	5.4216	0.16403	0.0:0.6595:0.1759:0.1646	.	128;128	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	128;128;128;128;99;128	ENSP00000376519:K128N;ENSP00000376520:K128N;ENSP00000390232:K128N;ENSP00000305065:K128N;ENSP00000376517:K99N;ENSP00000419307:K128N	ENSP00000305065:K128N	K	-	3	2	ZBBX	168560400	0.756000	0.28383	0.947000	0.38551	0.531000	0.34715	0.964000	0.29306	2.678000	0.91216	0.557000	0.71058	AAG		0.303	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		12	72	0	0	0	1	0	12	72				
ABCC2	1244	broad.mit.edu	37	10	101567180	101567180	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:101567180C>A	ENST00000370449.4	+	12	1683	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	524	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATTCAGAGACCAAGTACAAAA	0.428																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1570-1572)Caa>Aaa		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						152.0	156.0	155.0					10																	101567180		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101567180C>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1570C>A	10.37:g.101567180C>A	ENSP00000359478:p.Gln524Lys						p.Q524K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	12	1683	+		Colorectal(252;0.234)	524			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1570C>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	2.963	-0.214216	0.06101	.	.	ENSG00000023839	ENST00000370449	D	0.87334	-2.24	5.31	4.39	0.52855	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.352357	0.34025	N	0.004335	T	0.77870	0.4195	N	0.20610	0.595	0.80722	D	1	B	0.15473	0.013	B	0.25614	0.062	T	0.70561	-0.4838	10	0.11485	T	0.65	-14.2924	14.8533	0.70316	0.0:0.9269:0.0:0.0731	.	524	Q92887	MRP2_HUMAN	K	524	ENSP00000359478:Q524K	ENSP00000359478:Q524K	Q	+	1	0	ABCC2	101557170	0.697000	0.27767	0.464000	0.27143	0.352000	0.29268	1.397000	0.34543	2.643000	0.89663	0.561000	0.74099	CAA		0.428	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		17	146	1	0	1.5739e-10	1	1.68575e-10	17	146				
IGSF11	152404	broad.mit.edu	37	3	118621641	118621641	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:118621641A>C	ENST00000393775.2	-	7	1327	c.1022T>G	c.(1021-1023)tTg>tGg	p.L341W	IGSF11_ENST00000425327.2_Missense_Mutation_p.L340W|IGSF11_ENST00000491903.1_Missense_Mutation_p.L313W|IGSF11_ENST00000441144.2_Missense_Mutation_p.L316W|IGSF11_ENST00000489689.1_Missense_Mutation_p.L317W|IGSF11_ENST00000354673.2_Missense_Mutation_p.L340W	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	341					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGATTGGCCCAAGTCACTGAA	0.458																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1018-1020)tTg>tGg		immunoglobulin superfamily, member 11							157.0	160.0	159.0					3																	118621641		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621641A>C	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1022T>G	3.37:g.118621641A>C	ENSP00000377370:p.Leu341Trp					IGSF11_ENST00000441144.2_Missense_Mutation_p.L316W|IGSF11_ENST00000425327.2_Missense_Mutation_p.L340W|IGSF11_ENST00000393775.2_Missense_Mutation_p.L341W|IGSF11_ENST00000489689.1_Missense_Mutation_p.L317W|IGSF11_ENST00000491903.1_Missense_Mutation_p.L313W	p.L340W	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1399	-			341					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.1019T>G	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226889	0.58668	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83914	-0.93;-1.15;-1.78;-0.93;-1.73;-1.6	5.28	4.12	0.48240	.	1.397940	0.04139	N	0.319193	T	0.81269	0.4787	N	0.14661	0.345	0.28977	N	0.888899	D;D;D;D;D	0.63046	0.985;0.992;0.992;0.985;0.985	P;P;P;P;P	0.58970	0.71;0.849;0.849;0.71;0.71	T	0.69296	-0.5182	10	0.66056	D	0.02	.	4.1434	0.10205	0.641:0.1773:0.1817:0.0	.	313;316;340;317;341	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	W	340;341;317;340;316;313	ENSP00000406092:L340W;ENSP00000377370:L341W;ENSP00000420486:L317W;ENSP00000346700:L340W;ENSP00000401240:L316W;ENSP00000417413:L313W	ENSP00000346700:L340W	L	-	2	0	IGSF11	120104331	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.966000	0.49208	1.033000	0.39918	0.533000	0.62120	TTG		0.458	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			98	84	0	0	0	1	0	98	84				
UNC5D	137970	broad.mit.edu	37	8	35541166	35541166	+	Silent	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:35541166G>T	ENST00000404895.2	+	5	1000	c.672G>T	c.(670-672)tcG>tcT	p.S224S	UNC5D_ENST00000420357.1_Silent_p.S224S|UNC5D_ENST00000416672.1_Silent_p.S224S|UNC5D_ENST00000453357.2_Silent_p.S219S|UNC5D_ENST00000287272.2_Silent_p.S224S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	224	Ig-like C2-type.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CACGGCTCTCGGACTCAGGAA	0.517																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(670-672)tcG>tcT		unc-5 homolog D (C. elegans)							92.0	77.0	82.0					8																	35541166		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35541166G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.672G>T	8.37:g.35541166G>T						UNC5D_ENST00000453357.2_Silent_p.S219S|UNC5D_ENST00000420357.1_Silent_p.S224S|UNC5D_ENST00000404895.2_Silent_p.S224S|UNC5D_ENST00000416672.1_Silent_p.S224S	p.S224S			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	5	692	+			224			Ig-like C2-type.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.672G>T	CCDS6093.2																																																																																				0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			15	35	1	0	0.00498961	1	0.00508603	15	35				
EMC1	23065	broad.mit.edu	37	1	19549195	19549195	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:19549195G>T	ENST00000477853.1	-	20	2552	c.2510C>A	c.(2509-2511)tCc>tAc	p.S837Y	EMC1_ENST00000480380.1_5'Flank|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.S815Y|EMC1_ENST00000375199.3_Missense_Mutation_p.S836Y	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	837						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GAAGATATAGGACTGCTGGAG	0.617																																						ENST00000477853.1																			0											c.(2509-2511)tCc>tAc		ER membrane protein complex subunit 1							78.0	75.0	76.0					1																	19549195		2203	4300	6503	SO:0001583	missense	23065							g.chr1:19549195G>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2510C>A	1.37:g.19549195G>T	ENSP00000420608:p.Ser837Tyr					EMC1_ENST00000375199.3_Missense_Mutation_p.S836Y|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.S815Y	p.S837Y	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					20	2552	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2510C>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843613	0.91197	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208;ENST00000486405	T;T;T	0.29917	1.55;1.55;1.55	5.84	5.84	0.93424	Domain of unknown function DUF1620 (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.79108	0.978;0.992;0.911;0.946	T	0.58261	-0.7667	10	0.87932	D	0	-24.3093	18.6944	0.91594	0.0:0.0:1.0:0.0	.	815;836;836;837	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	Y	837;836;815;82	ENSP00000420608:S837Y;ENSP00000364345:S836Y;ENSP00000364354:S815Y	ENSP00000364345:S836Y	S	-	2	0	KIAA0090	19421782	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.238000	0.95380	2.751000	0.94390	0.655000	0.94253	TCC		0.617	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		17	44	1	0	2.23348e-06	1	2.36817e-06	17	44				
ABCC2	1244	broad.mit.edu	37	10	101567179	101567179	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:101567179C>A	ENST00000370449.4	+	12	1682	c.1569C>A	c.(1567-1569)gaC>gaA	p.D523E		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	523	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CATTCAGAGACCAAGTACAAA	0.428																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1567-1569)gaC>gaA		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						153.0	157.0	155.0					10																	101567179		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101567179C>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1569C>A	10.37:g.101567179C>A	ENSP00000359478:p.Asp523Glu						p.D523E	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	12	1682	+		Colorectal(252;0.234)	523			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1569C>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	0.088	-1.171331	0.01660	.	.	ENSG00000023839	ENST00000370449	D	0.87412	-2.25	5.31	-7.61	0.01299	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.016130	0.07824	N	0.960281	T	0.60741	0.2292	N	0.05199	-0.095	0.40277	D	0.97835	B	0.02656	0.0	B	0.12837	0.008	T	0.56469	-0.7974	10	0.02654	T	1	-12.4789	2.5237	0.04686	0.3185:0.2254:0.3291:0.127	.	523	Q92887	MRP2_HUMAN	E	523	ENSP00000359478:D523E	ENSP00000359478:D523E	D	+	3	2	ABCC2	101557169	0.000000	0.05858	0.104000	0.21259	0.393000	0.30537	-1.998000	0.01469	-0.989000	0.03485	-0.314000	0.08810	GAC		0.428	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		17	146	1	0	1.5739e-10	1	1.68575e-10	17	146				
TRIML1	339976	broad.mit.edu	37	4	189068236	189068236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:189068236G>T	ENST00000332517.3	+	6	1257	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	373	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAAGCCACCTGGGGACCTGTT	0.522																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1117-1119)Ggg>Tgg		tripartite motif family-like 1							95.0	96.0	95.0					4																	189068236		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068236G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1117G>T	4.37:g.189068236G>T	ENSP00000327738:p.Gly373Trp					TRIML1_ENST00000507581.1_3'UTR	p.G373W	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1257	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	373			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1117G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	9.314	1.056308	0.19907	.	.	ENSG00000184108	ENST00000332517	T	0.62105	0.05	4.88	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000068	T	0.72228	0.3434	M	0.67569	2.06	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.63093	-0.6714	10	0.72032	D	0.01	-33.3152	7.6619	0.28409	0.1862:0.0:0.8138:0.0	.	373	Q8N9V2	TRIML_HUMAN	W	373	ENSP00000327738:G373W	ENSP00000327738:G373W	G	+	1	0	TRIML1	189305230	0.000000	0.05858	0.489000	0.27452	0.028000	0.11728	-1.547000	0.02186	1.460000	0.47911	-0.293000	0.09583	GGG		0.522	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		24	73	1	0	2.39556e-15	1	2.77728e-15	24	73				
SH3PXD2B	285590	broad.mit.edu	37	5	171766188	171766188	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:171766188G>C	ENST00000311601.5	-	13	2091	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	641					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCCTAACCTGAGGTCTGGAC	0.562																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1921-1923)Cag>Gag		SH3 and PX domains 2B							87.0	87.0	87.0					5																	171766188		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766188G>C	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1921C>G	5.37:g.171766188G>C	ENSP00000309714:p.Gln641Glu					SH3PXD2B_ENST00000519643.1_Intron	p.Q641E	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2091	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	641					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.1921C>G	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144372	0.37825	.	.	ENSG00000174705	ENST00000311601	T	0.61274	0.12	5.46	5.46	0.80206	.	0.533363	0.20920	N	0.083295	T	0.45558	0.1348	L	0.34521	1.04	0.34503	D	0.706316	B	0.23937	0.094	B	0.22386	0.039	T	0.52593	-0.8555	9	.	.	.	-18.9085	12.5275	0.56096	0.0:0.1678:0.8322:0.0	.	641	A1X283	SPD2B_HUMAN	E	641	ENSP00000309714:Q641E	.	Q	-	1	0	SH3PXD2B	171698793	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.661000	0.61518	2.558000	0.86282	0.555000	0.69702	CAG		0.562	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		71	22	0	0	0	1	0	71	22				
GRID2	2895	broad.mit.edu	37	4	94159559	94159559	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:94159559G>T	ENST00000282020.4	+	8	1421	c.1163G>T	c.(1162-1164)gGa>gTa	p.G388V	GRID2_ENST00000510992.1_Missense_Mutation_p.G293V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	388					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTAGAATTTGGAGAAAATGGA	0.383																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1162-1164)gGa>gTa		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						101.0	102.0	102.0					4																	94159559		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94159559G>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1163G>T	4.37:g.94159559G>T	ENSP00000282020:p.Gly388Val					GRID2_ENST00000510992.1_Missense_Mutation_p.G293V	p.G388V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	8	1421	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	388					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1163G>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390466	0.42410	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.86366	-2.11;-2.11;-2.11	6.03	4.25	0.50352	Extracellular ligand-binding receptor (1);	0.200591	0.43579	D	0.000556	T	0.79896	0.4525	N	0.08118	0	0.47183	D	0.99934	B;B;B	0.32653	0.085;0.085;0.379	B;B;B	0.39617	0.063;0.063;0.305	T	0.78086	-0.2341	10	0.48119	T	0.1	.	16.8856	0.86075	0.0:0.422:0.5779:0.0	.	293;388;293	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	V	388;293;69	ENSP00000282020:G388V;ENSP00000421257:G293V;ENSP00000423331:G69V	ENSP00000282020:G388V	G	+	2	0	GRID2	94378582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.981000	0.29526	0.826000	0.34661	0.557000	0.71058	GGA		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			41	44	1	0	2.35958e-20	1	2.79704e-20	41	44				
IGLV1-47	28822	broad.mit.edu	37	22	22712568	22712568	+	RNA	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:22712568C>A	ENST00000390294.2	+	0	367									immunoglobulin lambda variable 1-47																		GAGGATGAGGCTGATTATTAC	0.602																																						ENST00000390294.2																			0																				133.0	128.0	130.0					22																	22712568		1994	4163	6157			28822							g.chr22:22712568C>A	Z73663		22q11.2	2012-02-08			ENSG00000211648	ENSG00000211648		"""Immunoglobulins / IGL locus"""	5880	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151048		22.37:g.22712568C>A														0	367	+									RNA	SNP	ENST00000390294.2	37																																																																																						0.602	IGLV1-47-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321108.2	NG_000002		56	197	1	0	2.27459e-33	1	2.79034e-33	56	197				
COL17A1	1308	broad.mit.edu	37	10	105831828	105831828	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:105831828A>G	ENST00000353479.5	-	8	715	c.425T>C	c.(424-426)aTt>aCt	p.I142T	COL17A1_ENST00000369733.3_Missense_Mutation_p.I142T|COL17A1_ENST00000393211.3_Missense_Mutation_p.I142T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	142	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCGAACTCGAATTTCACTCTC	0.488																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(424-426)aTt>aCt		collagen, type XVII, alpha 1							167.0	140.0	149.0					10																	105831828		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105831828A>G	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.425T>C	10.37:g.105831828A>G	ENSP00000340937:p.Ile142Thr					COL17A1_ENST00000369733.3_Missense_Mutation_p.I142T|COL17A1_ENST00000393211.3_Missense_Mutation_p.I142T	p.I142T	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	8	715	-		Colorectal(252;0.103)|Breast(234;0.122)	142			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.425T>C	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173054	0.57584	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.58210	0.35;0.35;0.35	5.0	5.0	0.66597	.	0.000000	0.44285	D	0.000475	T	0.71039	0.3293	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.83275	0.996;0.993;0.991	T	0.75193	-0.3404	10	0.87932	D	0	-13.5621	14.3814	0.66914	1.0:0.0:0.0:0.0	.	142;142;142	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	T	142;142;126;142	ENSP00000340937:I142T;ENSP00000358748:I142T;ENSP00000376905:I142T	ENSP00000340937:I142T	I	-	2	0	COL17A1	105821818	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	7.809000	0.86057	1.878000	0.54408	0.379000	0.24179	ATT		0.488	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		34	12	0	0	0	1	0	34	12				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		16	376	0	0	0	1	0	16	376				
DCX	1641	broad.mit.edu	37	X	110653985	110653985	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:110653985C>G	ENST00000338081.3	-	1	389	c.218G>C	c.(217-219)tGt>tCt	p.C73S	DCX_ENST00000356220.3_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	73					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GACTTACTGACAGTGGCTCCT	0.438																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(217-219)tGt>tCt		doublecortin							152.0	147.0	149.0					X																	110653985		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653985C>G	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.218G>C	X.37:g.110653985C>G	ENSP00000337697:p.Cys73Ser					DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron	p.C73S	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			1	389	-			73					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.218G>C	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.957|9.957	1.221882|1.221882	0.22457|0.22457	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000338081|ENST00000358070	T|.	0.23348|.	1.91|.	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	0.000000|.	0.44902|.	D|.	0.000418|.	T|T	0.35799|0.35799	0.0944|0.0944	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.19331|.	0.035;0.035|.	B;B|.	0.15052|.	0.012;0.012|.	T|T	0.16600|0.16600	-1.0397|-1.0397	10|5	0.87932|.	D|.	0|.	.|.	11.7921|11.7921	0.52075|0.52075	0.0:0.8103:0.1897:0.0|0.0:0.8103:0.1897:0.0	.|.	61;73|.	B4DM53;O43602|.	.;DCX_HUMAN|.	S|L	73|65	ENSP00000337697:C73S|.	ENSP00000337697:C73S|.	C|V	-|-	2|1	0|0	DCX|DCX	110540641|110540641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.239000|3.239000	0.51360|0.51360	2.400000|2.400000	0.81607|0.81607	0.513000|0.513000	0.50165|0.50165	TGT|GTC		0.438	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		4	161	0	0	0	1	0	4	161				
HOXD12	3238	broad.mit.edu	37	2	176964812	176964812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:176964812G>T	ENST00000406506.2	+	1	355	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	HOXD12_ENST00000404162.2_Nonsense_Mutation_p.E95*			P35452	HXD12_HUMAN	homeobox D12	95					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGACGGACCCGAAGAGCAGGC	0.711																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(283-285)Gaa>Taa		homeobox D12							8.0	9.0	8.0					2																	176964812		1829	4069	5898	SO:0001587	stop_gained	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964812G>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.283G>T	2.37:g.176964812G>T	ENSP00000385586:p.Glu95*					HOXD12_ENST00000404162.2_Nonsense_Mutation_p.E95*	p.E95*			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	355	+			95					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Nonsense_Mutation	SNP	ENST00000406506.2	37	c.283G>T	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495677	0.85069	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	.	.	.	5.39	5.39	0.77823	.	0.126367	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.3113	0.82872	0.0:0.0:1.0:0.0	.	.	.	.	X	95	.	ENSP00000385132:E95X	E	+	1	0	HOXD12	176673058	1.000000	0.71417	0.996000	0.52242	0.784000	0.44337	6.336000	0.72954	2.528000	0.85240	0.655000	0.94253	GAA		0.711	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		20	10	1	0	2.37509e-13	1	2.67992e-13	20	10				
FANCA	2175	broad.mit.edu	37	16	89811462	89811462	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:89811462C>T	ENST00000389301.3	-	36	3561	c.3531G>A	c.(3529-3531)ctG>ctA	p.L1177L	FANCA_ENST00000568369.1_Silent_p.L1177L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1177					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCACAGGCTCCAGGCTCGGCC	0.642			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3529-3531)ctG>ctA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							35.0	31.0	32.0					16																	89811462		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89811462C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3531G>A	16.37:g.89811462C>T						FANCA_ENST00000568369.1_Silent_p.L1177L	p.L1177L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	36	3561	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1177					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.3531G>A	CCDS32515.1																																																																																				0.642	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			31	30	0	0	0	1	0	31	30				
ESYT3	83850	broad.mit.edu	37	3	138191502	138191502	+	Missense_Mutation	SNP	G	G	A	rs372599591		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:138191502G>A	ENST00000389567.4	+	18	2224	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	680					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.G680R(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGCCCATCGGGGAGAAGAA	0.597																																						ENST00000389567.4																			1	Substitution - Missense(1)	p.G680R(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2038-2040)Ggg>Agg		extended synaptotagmin-like protein 3		G	ARG/GLY	2,4234		0,2,2116	101.0	119.0	113.0		2038	3.2	0.0	3		113	0,8464		0,0,4232	no	missense	ESYT3	NM_031913.3	125	0,2,6348	AA,AG,GG		0.0,0.0472,0.0157	probably-damaging	680/887	138191502	2,12698	2118	4232	6350	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138191502G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2038G>A	3.37:g.138191502G>A	ENSP00000374218:p.Gly680Arg						p.G680R	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			18	2224	+			680					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2038G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661734	0.47572	4.72E-4	0.0	ENSG00000158220	ENST00000389567	T	0.39997	1.05	4.97	3.17	0.36434	.	0.598897	0.14328	N	0.326544	T	0.27594	0.0678	L	0.44542	1.39	0.09310	N	0.999997	P	0.51240	0.943	B	0.38327	0.271	T	0.08330	-1.0727	10	0.15499	T	0.54	-16.8101	6.5793	0.22585	0.2877:0.0:0.7123:0.0	.	680	A0FGR9	ESYT3_HUMAN	R	680	ENSP00000374218:G680R	ENSP00000374218:G680R	G	+	1	0	ESYT3	139674192	0.993000	0.37304	0.005000	0.12908	0.972000	0.66771	2.412000	0.44609	0.685000	0.31468	0.462000	0.41574	GGG		0.597	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		110	126	0	0	0	1	0	110	126				
FAM49B	51571	broad.mit.edu	37	8	130859080	130859080	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:130859080T>C	ENST00000519824.2	-	11	1154	c.881A>G	c.(880-882)aAt>aGt	p.N294S	RP11-473O4.5_ENST00000524100.1_RNA|FAM49B_ENST00000517654.1_Missense_Mutation_p.N294S|FAM49B_ENST00000519540.1_Missense_Mutation_p.N294S|FAM49B_ENST00000523509.1_Missense_Mutation_p.N294S|FAM49B_ENST00000522941.1_Missense_Mutation_p.N148S|FAM49B_ENST00000519110.1_Missense_Mutation_p.N294S|FAM49B_ENST00000522746.1_Missense_Mutation_p.N294S|FAM49B_ENST00000401979.2_Missense_Mutation_p.N294S|FAM49B_ENST00000522250.1_Missense_Mutation_p.N148S	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	294						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTCCACACTATTAGGAGGTTG	0.333																																						ENST00000519824.2																			0				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(880-882)aAt>aGt		family with sequence similarity 49, member B							96.0	87.0	90.0					8																	130859080		2203	4299	6502	SO:0001583	missense	51571							g.chr8:130859080T>C	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.881A>G	8.37:g.130859080T>C	ENSP00000429150:p.Asn294Ser					FAM49B_ENST00000522941.1_Missense_Mutation_p.N148S|FAM49B_ENST00000517654.1_Missense_Mutation_p.N294S|FAM49B_ENST00000401979.2_Missense_Mutation_p.N294S|FAM49B_ENST00000522746.1_Missense_Mutation_p.N294S|FAM49B_ENST00000522250.1_Missense_Mutation_p.N148S|FAM49B_ENST00000519540.1_Missense_Mutation_p.N294S|FAM49B_ENST00000523509.1_Missense_Mutation_p.N294S|FAM49B_ENST00000519110.1_Missense_Mutation_p.N294S	p.N294S	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		11	1154	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		294					Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	c.881A>G	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	T	9.963	1.223226	0.22457	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941	T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	6.03	4.87	0.63330	.	0.038972	0.85682	N	0.000000	T	0.22244	0.0536	N	0.11560	0.145	0.58432	D	0.999999	B	0.12013	0.005	B	0.18871	0.023	T	0.05852	-1.0860	10	0.09843	T	0.71	-11.3712	11.2601	0.49078	0.0:0.0709:0.0:0.9291	.	294	Q9NUQ9	FA49B_HUMAN	S	294;294;294;294;148;294;294;294;148	ENSP00000428117:N294S;ENSP00000429802:N294S;ENSP00000384880:N294S;ENSP00000429078:N294S;ENSP00000429978:N148S;ENSP00000429150:N294S;ENSP00000430674:N294S;ENSP00000429499:N294S;ENSP00000430433:N148S	ENSP00000384880:N294S	N	-	2	0	FAM49B	130928262	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.103000	0.64578	1.097000	0.41459	0.533000	0.62120	AAT		0.333	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		10	29	0	0	0	1	0	10	29				
CYSLTR2	57105	broad.mit.edu	37	13	49281015	49281015	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:49281015G>C	ENST00000282018.3	+	1	65	c.62G>C	c.(61-63)gGc>gCc	p.G21A		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	21					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAACCAAATGGCACCTTCAGC	0.368																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(61-63)gGc>gCc		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						84.0	87.0	86.0					13																	49281015		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281015G>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.62G>C	13.37:g.49281015G>C	ENSP00000282018:p.Gly21Ala						p.G21A	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	65	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	21					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.62G>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420875	0.42918	.	.	ENSG00000152207	ENST00000282018	T	0.36878	1.23	5.7	-0.304	0.12788	.	1.436910	0.04552	N	0.390082	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.15065	-1.0450	10	0.02654	T	1	.	1.7977	0.03065	0.3515:0.1129:0.3998:0.1359	.	21	Q9NS75	CLTR2_HUMAN	A	21	ENSP00000282018:G21A	ENSP00000282018:G21A	G	+	2	0	CYSLTR2	48179016	0.000000	0.05858	0.003000	0.11579	0.927000	0.56198	-0.135000	0.10420	-0.428000	0.07339	-0.150000	0.13652	GGC		0.368	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			24	39	0	0	0	1	0	24	39				
TFAP2A	7020	broad.mit.edu	37	6	10398701	10398701	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:10398701G>A	ENST00000482890.1	-	8	1615	c.1263C>T	c.(1261-1263)caC>caT	p.H421H	TFAP2A_ENST00000379608.3_Silent_p.H415H|TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379613.3_Silent_p.H423H|TFAP2A_ENST00000379604.2_Silent_p.H421H|TFAP2A_ENST00000319516.4_Silent_p.H417H			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	421					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter 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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TGTTGTCCGTGTGGCTGTTGG	0.637																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1267-1269)caC>caT		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							309.0	322.0	318.0					6																	10398701		2203	4300	6503	SO:0001819	synonymous_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10398701G>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1263C>T	6.37:g.10398701G>A						TFAP2A_ENST00000319516.4_Silent_p.H417H|TFAP2A_ENST00000379604.2_Silent_p.H421H|TFAP2A_ENST00000379608.3_Silent_p.H415H|TFAP2A_ENST00000482890.1_Silent_p.H421H	p.H423H			P05549	AP2A_HUMAN			7	1525	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	421					Q13777|Q5TAV5|Q8N1C6	Silent	SNP	ENST00000482890.1	37	c.1269C>T	CCDS4510.1																																																																																				0.637	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		395	128	0	0	0	1	0	395	128				
HAO1	54363	broad.mit.edu	37	20	7866457	7866457	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:7866457G>A	ENST00000378789.3	-	6	919	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	290	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCCCGTCCAGGAAGACTTCC	0.488																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(868-870)Ctg>Ttg		hydroxyacid oxidase (glycolate oxidase) 1							117.0	116.0	117.0					20																	7866457		2203	4300	6503	SO:0001819	synonymous_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866457G>A	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.868C>T	20.37:g.7866457G>A							p.L290L	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			6	919	-			290			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	c.868C>T	CCDS13100.1																																																																																				0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			41	141	0	0	0	1	0	41	141				
RERE	473	broad.mit.edu	37	1	8421400	8421400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:8421400T>G	ENST00000337907.3	-	19	2801	c.2167A>C	c.(2167-2169)Agt>Cgt	p.S723R	RERE_ENST00000377464.1_Missense_Mutation_p.S455R|RERE_ENST00000400908.2_Missense_Mutation_p.S723R|RERE_ENST00000476556.1_Missense_Mutation_p.S169R|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	723					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCCGAGTCACTCTCATTGTCC	0.647																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2167-2169)Agt>Cgt		arginine-glutamic acid dipeptide (RE) repeats							91.0	86.0	87.0					1																	8421400		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8421400T>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2167A>C	1.37:g.8421400T>G	ENSP00000338629:p.Ser723Arg					RERE_ENST00000377464.1_Missense_Mutation_p.S455R|RERE_ENST00000400908.2_Missense_Mutation_p.S723R|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S169R	p.S723R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	2801	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	723					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.2167A>C	CCDS95.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.722093	0.89298	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.63255	-0.03;0.77;2.37;-0.03	5.6	5.6	0.85130	.	.	.	.	.	T	0.76673	0.4020	M	0.67953	2.075	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.75747	-0.3209	9	0.36615	T	0.2	-8.7566	14.9577	0.71131	0.0:0.0:0.0:1.0	.	455;723	B1AKN3;Q9P2R6	.;RERE_HUMAN	R	723;455;169;723	ENSP00000338629:S723R;ENSP00000366684:S455R;ENSP00000422246:S169R;ENSP00000383700:S723R	ENSP00000338629:S723R	S	-	1	0	RERE	8343987	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.143000	0.66587	0.459000	0.35465	AGT		0.647	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			56	39	0	0	0	1	0	56	39				
CCNB3	85417	broad.mit.edu	37	X	50052863	50052863	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:50052863T>C	ENST00000376042.1	+	6	1992	c.1694T>C	c.(1693-1695)aTg>aCg	p.M565T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M565T|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	565					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTTCTTTATGGAGCCAATG	0.383																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1693-1695)aTg>aCg		cyclin B3							39.0	35.0	36.0					X																	50052863		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052863T>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1694T>C	X.37:g.50052863T>C	ENSP00000365210:p.Met565Thr					CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M565T|CCNB3_ENST00000376038.1_Intron	p.M565T			Q8WWL7	CCNB3_HUMAN			6	1992	+	Ovarian(276;0.236)		565					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.1694T>C	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	0.714	-0.785939	0.02907	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35789	1.29;1.29	3.19	1.95	0.26073	.	3.492290	0.01321	N	0.010958	T	0.23532	0.0569	N	0.17474	0.49	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.13548	-1.0505	9	.	.	.	.	4.8021	0.13301	0.0:0.1514:0.0:0.8486	.	565	Q8WWL7	CCNB3_HUMAN	T	565	ENSP00000365210:M565T;ENSP00000276014:M565T	.	M	+	2	0	CCNB3	50069603	0.000000	0.05858	0.001000	0.08648	0.279000	0.26890	-0.685000	0.05167	0.434000	0.26340	0.356000	0.21956	ATG		0.383	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			15	1	0	0	0	1	0	15	1				
TTN	7273	broad.mit.edu	37	2	179588229	179588229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:179588229C>T	ENST00000591111.1	-	72	20871	c.20647G>A	c.(20647-20649)Gac>Aac	p.D6883N	TTN_ENST00000589042.1_Missense_Mutation_p.D7200N|TTN_ENST00000342992.6_Missense_Mutation_p.D5956N|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12474	Ig-like 50.				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)			TGAGATATGTCAATATTAAAT	0.443																																						ENST00000589042.1																			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.(21598-21600)Gac>Aac		titin							76.0	76.0	76.0					2																	179588229		1883	4115	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588229C>T	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.20647G>A	2.37:g.179588229C>T	ENSP00000465570:p.Asp6883Asn					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D5956N|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6883N|TTN_ENST00000342175.6_Intron	p.D7200N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	21822	-			6883			Ig-like 54.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.21598G>A		.	.	.	.	.	.	.	.	.	.	C	3.428	-0.116663	0.06838	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	6.06	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57829	0.2080	L	0.41824	1.3	0.24973	N	0.991655	B	0.09022	0.002	B	0.09377	0.004	T	0.54715	-0.8252	9	0.87932	D	0	.	10.5564	0.45121	0.0:0.792:0.0:0.208	.	6883	Q8WZ42	TITIN_HUMAN	N	5956	ENSP00000343764:D5956N	ENSP00000343764:D5956N	D	-	1	0	TTN	179296474	0.010000	0.17322	0.044000	0.18714	0.259000	0.26198	1.261000	0.32980	1.583000	0.49898	-0.142000	0.14014	GAC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	21	0	0	0	1	0	37	21				
DDI1	414301	broad.mit.edu	37	11	103907963	103907963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:103907963A>G	ENST00000302259.3	+	1	656	c.413A>G	c.(412-414)cAa>cGa	p.Q138R	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	138							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCCGGCCTGCAAGGTCTGGGC	0.677																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(412-414)cAa>cGa		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							44.0	44.0	44.0					11																	103907963		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907963A>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.413A>G	11.37:g.103907963A>G	ENSP00000302805:p.Gln138Arg					PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	p.Q138R	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	656	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	138					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.413A>G	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441373	0.25900	.	.	ENSG00000170967	ENST00000302259	T	0.24350	1.86	5.02	-1.69	0.08186	.	0.058530	0.64402	D	0.000001	T	0.11153	0.0272	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.21586	-1.0241	10	0.20519	T	0.43	-9.1285	4.9875	0.14198	0.4981:0.2642:0.2377:0.0	.	138	Q8WTU0	DDI1_HUMAN	R	138	ENSP00000302805:Q138R	ENSP00000302805:Q138R	Q	+	2	0	DDI1	103413173	0.075000	0.21258	0.000000	0.03702	0.001000	0.01503	0.767000	0.26575	-0.366000	0.08064	-0.256000	0.11100	CAA		0.677	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		18	51	0	0	0	1	0	18	51				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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"""		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578442		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578442T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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)				TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		139	14	0	0	0	1	0	139	14				
NDUFA13	51079	broad.mit.edu	37	19	19638864	19638864	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:19638864G>T	ENST00000507754.4	+	5	848	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	NDUFA13_ENST00000252576.5_Missense_Mutation_p.G205W|YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000608404.1_Intron|NDUFA13_ENST00000503283.1_Intron|NDUFA13_ENST00000512771.3_Missense_Mutation_p.G122W|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000555938.1_Intron			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	122	Important for inducing cell death.				apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCCTTGATCGGGGAGCTGTA	0.647																																						ENST00000507754.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						c.(364-366)Ggg>Tgg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13							43.0	40.0	41.0					19																	19638864		2203	4300	6503	SO:0001583	missense	51079							g.chr19:19638864G>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.364G>T	19.37:g.19638864G>T	ENSP00000423673:p.Gly122Trp					CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron|NDUFA13_ENST00000252576.5_Missense_Mutation_p.G205W|NDUFA13_ENST00000503283.1_Intron	p.G122W							5	865	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.364G>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837544	0.50951	.	.	ENSG00000186010	ENST00000507754;ENST00000252576	T;T	0.77358	-1.09;-1.09	4.7	3.64	0.41730	.	0.264660	0.31020	N	0.008420	D	0.84474	0.5480	L	0.61218	1.895	0.31890	N	0.617352	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.983	D	0.85660	0.1288	10	0.72032	D	0.01	.	10.8011	0.46489	0.0:0.1927:0.8073:0.0	.	122;122	B4DF76;Q9P0J0	.;NDUAD_HUMAN	W	122;205	ENSP00000423673:G122W;ENSP00000252576:G205W	ENSP00000252576:G205W	G	+	1	0	NDUFA13	19499864	0.759000	0.28416	0.060000	0.19600	0.001000	0.01503	2.432000	0.44784	0.977000	0.38444	-0.291000	0.09656	GGG		0.647	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		15	32	1	0	2.62699e-14	1	3.01247e-14	15	32				
ZNF304	57343	broad.mit.edu	37	19	57865147	57865147	+	Missense_Mutation	SNP	C	C	T	rs140167914		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:57865147C>T	ENST00000282286.5	+	2	261	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	CTC-444N24.13_ENST00000597973.1_RNA|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000391705.3_Missense_Mutation_p.L30F|ZNF304_ENST00000443917.2_Missense_Mutation_p.L30F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	30	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(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGTGGGAACTCCTTGAGGA	0.488																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(88-90)Ctc>Ttc		zinc finger protein 304							268.0	202.0	224.0					19																	57865147		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57865147C>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.88C>T	19.37:g.57865147C>T	ENSP00000282286:p.Leu30Phe					ZNF304_ENST00000443917.2_Missense_Mutation_p.L30F|ZNF304_ENST00000282286.5_Missense_Mutation_p.L30F|ZNF304_ENST00000598744.1_5'UTR	p.L30F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	372	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	30			KRAB.			Missense_Mutation	SNP	ENST00000282286.5	37	c.88C>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434786	0.43224	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.02177	4.41;4.41;4.41	3.2	2.12	0.27331	Krueppel-associated box (4);	.	.	.	.	T	0.09774	0.0240	M	0.81942	2.565	0.09310	N	1	D;D	0.76494	0.983;0.999	P;D	0.91635	0.905;0.999	T	0.20107	-1.0285	9	0.20519	T	0.43	.	7.9072	0.29769	0.4465:0.5535:0.0:0.0	.	30;30	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	30	ENSP00000282286:L30F;ENSP00000375586:L30F;ENSP00000401642:L30F	ENSP00000282286:L30F	L	+	1	0	ZNF304	62556959	0.010000	0.17322	0.293000	0.24932	0.991000	0.79684	0.048000	0.14078	0.866000	0.35629	0.557000	0.71058	CTC		0.488	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			58	58	0	0	0	1	0	58	58				
ADAM17	6868	broad.mit.edu	37	2	9637328	9637328	+	Silent	SNP	A	A	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:9637328A>T	ENST00000310823.3	-	14	1880	c.1698T>A	c.(1696-1698)gtT>gtA	p.V566V		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	566	Cys-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GATCCAAGCAAACAGTGTCAT	0.478																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(1696-1698)gtT>gtA		ADAM metallopeptidase domain 17							194.0	166.0	176.0					2																	9637328		2203	4300	6503	SO:0001819	synonymous_variant	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9637328A>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1698T>A	2.37:g.9637328A>T							p.V566V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	14	1880	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		566			Cys-rich.		O60226	Silent	SNP	ENST00000310823.3	37	c.1698T>A	CCDS1665.1																																																																																				0.478	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			56	65	0	0	0	1	0	56	65				
MBD4	8930	broad.mit.edu	37	3	129155826	129155826	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:129155826C>G	ENST00000249910.1	-	3	836	c.661G>C	c.(661-663)Gat>Cat	p.D221H	MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.D221H|MBD4_ENST00000503197.1_Missense_Mutation_p.D221H|MBD4_ENST00000429544.2_Missense_Mutation_p.D221H	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	221					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTAACATCATCAACACCCTCA	0.393								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(661-663)Gat>Cat	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							147.0	156.0	153.0					3																	129155826		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155826C>G	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.661G>C	3.37:g.129155826C>G	ENSP00000249910:p.Asp221His					MBD4_ENST00000509587.1_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.D221H|MBD4_ENST00000249910.1_Missense_Mutation_p.D221H|MBD4_ENST00000503197.1_Missense_Mutation_p.D221H|MBD4_ENST00000393278.2_Intron	p.D221H	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			3	856	-			221					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.661G>C	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	9.097	1.003236	0.19121	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.95;-2.94;-3.14;-3.14	5.28	-6.28	0.02020	.	1.640160	0.03141	N	0.166555	T	0.79393	0.4438	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.67902	-0.5550	10	0.32370	T	0.25	-0.5869	3.9889	0.09529	0.0953:0.236:0.4687:0.2001	.	221;221;221;221	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	H	221	ENSP00000394080:D221H;ENSP00000249910:D221H;ENSP00000424873:D221H;ENSP00000422327:D221H	ENSP00000249910:D221H	D	-	1	0	MBD4	130638516	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.243000	0.02905	-0.614000	0.05687	-0.312000	0.09012	GAT		0.393	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		41	152	0	0	0	1	0	41	152				
FAT1	2195	broad.mit.edu	37	4	187554856	187554856	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:187554856G>A	ENST00000441802.2	-	7	4514	c.4305C>T	c.(4303-4305)acC>acT	p.T1435T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1435	Cadherin 12. {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						GGATAGTGGTGGTTCCATCTG	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			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.(4303-4305)acC>acT		FAT atypical cadherin 1							269.0	253.0	258.0					4																	187554856		1996	4171	6167	SO:0001819	synonymous_variant	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.chr4:187554856G>A	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.4305C>T	4.37:g.187554856G>A		HNSCC(5;0.00058)					p.T1435T	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			7	4514	-			1435			Cadherin 12.			Silent	SNP	ENST00000441802.2	37	c.4305C>T	CCDS47177.1																																																																																				0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		73	77	0	0	0	1	0	73	77				
CSMD3	114788	broad.mit.edu	37	8	113256656	113256656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:113256656T>C	ENST00000297405.5	-	65	10613	c.10369A>G	c.(10369-10371)Aac>Gac	p.N3457D	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3417D|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3387D|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3288D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3457	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3417Y(1)|p.N3457Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCAGGTGTTATCGGATCTA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.N3417Y(1)|p.N3457Y(1)	lung(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10369-10371)Aac>Gac		CUB and Sushi multiple domains 3							122.0	110.0	114.0					8																	113256656		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256656T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10369A>G	8.37:g.113256656T>C	ENSP00000297405:p.Asn3457Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.N3417D|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3288D|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3387D	p.N3457D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10613	-			3457			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10369A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204588	0.38905	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.337500	0.27686	N	0.018264	T	0.32346	0.0826	L	0.31926	0.97	0.34469	D	0.702602	B;B;B	0.22480	0.008;0.07;0.028	B;B;B	0.30105	0.032;0.111;0.039	T	0.42050	-0.9474	10	0.36615	T	0.2	.	7.9174	0.29827	0.0:0.1177:0.0:0.8823	.	3288;3457;3417	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	3417;3457;2727;3288;3387	ENSP00000345799:N3417D;ENSP00000297405:N3457D;ENSP00000341558:N2727D;ENSP00000412263:N3288D;ENSP00000343124:N3387D	ENSP00000297405:N3457D	N	-	1	0	CSMD3	113325832	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.802000	0.55553	2.254000	0.74563	0.482000	0.46254	AAC		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	124	0	0	0	1	0	24	124				
KRTAP4-6	81871	broad.mit.edu	37	17	39296608	39296608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:39296608G>C	ENST00000345847.4	-	1	131	c.132C>G	c.(130-132)agC>agG	p.S44R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	44	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GTCTGCAGCAGCTGGACACAC	0.677																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(130-132)agC>agG		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296608G>C	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.132C>G	17.37:g.39296608G>C	ENSP00000328270:p.Ser44Arg						p.S44R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	131	-			44			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.132C>G	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532261	0.27387	.	.	ENSG00000198090	ENST00000345847	T	0.00659	5.94	5.03	3.03	0.35002	.	0.431782	0.16568	U	0.208752	T	0.04048	0.0113	M	0.90870	3.155	0.33187	D	0.550396	.	.	.	.	.	.	T	0.01879	-1.1255	8	0.62326	D	0.03	.	9.7013	0.40189	0.1726:0.0:0.8274:0.0	.	.	.	.	R	44	ENSP00000328270:S44R	ENSP00000328270:S44R	S	-	3	2	KRTAP4-6	36550134	0.993000	0.37304	1.000000	0.80357	0.129000	0.20672	1.481000	0.35476	0.523000	0.28482	-0.156000	0.13503	AGC		0.677	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			36	147	0	0	0	1	0	36	147				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						ENST00000557886.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(6)|kidney(5)|prostate(1)	12						c.(475-477)gtA>gtG																																						SO:0001819	synonymous_variant	100133220							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C							p.V159V							6	576	-									Silent	SNP	ENST00000557886.1	37	c.477A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			2	0	0	0	0	1	0	2	0				
BACH1	571	broad.mit.edu	37	21	30693736	30693736	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr21:30693736C>T	ENST00000399921.1	+	2	378	c.135C>T	c.(133-135)ttC>ttT	p.F45F	BACH1_ENST00000286800.3_Silent_p.F45F	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACAGCGGTTCCGCGCTCACC	0.522																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(133-135)ttC>ttT		BTB and CNC homology 1, basic leucine zipper transcription factor 1							138.0	113.0	121.0					21																	30693736		2203	4300	6503	SO:0001819	synonymous_variant	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693736C>T	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.135C>T	21.37:g.30693736C>T						BACH1_ENST00000286800.3_Silent_p.F45F	p.F45F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			2	378	+			45			BTB.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000399921.1	37	c.135C>T	CCDS13585.1																																																																																				0.522	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		39	71	0	0	0	1	0	39	71				
CFAP70	118491	broad.mit.edu	37	10	75082775	75082775	+	Silent	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:75082775T>C	ENST00000310715.3	-	10	1188	c.1068A>G	c.(1066-1068)agA>agG	p.R356R	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.R356R|TTC18_ENST00000401621.2_Silent_p.R356R|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		356						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCCCCGAATTCTCTTCACAC	0.368																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1066-1068)agA>agG		tetratricopeptide repeat domain 18							122.0	117.0	119.0					10																	75082775		2203	4300	6503	SO:0001819	synonymous_variant	118491						binding	g.chr10:75082775T>C																												ENST00000310715.3:c.1068A>G	10.37:g.75082775T>C						TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.R356R|TTC18_ENST00000394865.1_Silent_p.R356R	p.R356R	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN			10	1188	-	Prostate(51;0.0119)		356					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	ENST00000310715.3	37	c.1068A>G	CCDS7324.3																																																																																				0.368	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				62	30	0	0	0	1	0	62	30				
PRR23B	389151	broad.mit.edu	37	3	138738774	138738774	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:138738774G>T	ENST00000329447.5	-	1	994	c.730C>A	c.(730-732)Ccc>Acc	p.P244T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	244	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCGCGTGGGGACCTGGACTC	0.657																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(730-732)Ccc>Acc		proline rich 23B							19.0	23.0	22.0					3																	138738774		2200	4292	6492	SO:0001583	missense	389151							g.chr3:138738774G>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.730C>A	3.37:g.138738774G>T	ENSP00000328768:p.Pro244Thr					MRPS22_ENST00000495075.1_Intron	p.P244T	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	994	-			244			Pro-rich.		B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.730C>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852046	0.51270	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.63	2.74	0.32292	.	0.500329	0.17044	N	0.189184	T	0.62600	0.2441	M	0.68952	2.095	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.50346	-0.8839	9	0.62326	D	0.03	.	9.3087	0.37891	0.0:0.2183:0.7817:0.0	.	244	Q6ZRT6	PR23B_HUMAN	T	244	.	ENSP00000328768:P244T	P	-	1	0	PRR23B	140221464	0.176000	0.23096	0.090000	0.20809	0.196000	0.23810	0.965000	0.29319	1.080000	0.41073	0.655000	0.94253	CCC		0.657	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		18	116	1	0	2.35188e-11	1	2.55797e-11	18	116				
CXorf57	55086	broad.mit.edu	37	X	105882774	105882774	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105882774G>T	ENST00000372548.4	+	9	1700	c.1591G>T	c.(1591-1593)Gct>Tct	p.A531S	CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	531							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTCTTGACAGCTATAAGTGA	0.343																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1591-1593)Gct>Tct		chromosome X open reading frame 57							105.0	97.0	100.0					X																	105882774		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882774G>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1591G>T	X.37:g.105882774G>T	ENSP00000361628:p.Ala531Ser					CXorf57_ENST00000372544.2_Intron	p.A531S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			9	1700	+			531					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1591G>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108462	0.20714	.	.	ENSG00000147231	ENST00000372548	T	0.46063	0.88	5.19	3.37	0.38596	.	0.187396	0.45867	D	0.000340	T	0.31857	0.0810	L	0.40543	1.245	0.80722	D	1	P	0.47841	0.901	P	0.47827	0.558	T	0.28618	-1.0038	10	0.09084	T	0.74	-7.115	4.0764	0.09906	0.0927:0.1676:0.5836:0.1561	.	531	Q6NSI4	CX057_HUMAN	S	531	ENSP00000361628:A531S	ENSP00000361628:A531S	A	+	1	0	CXorf57	105769430	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	1.569000	0.36428	0.609000	0.30018	0.538000	0.68166	GCT		0.343	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		21	76	1	0	7.87624e-14	1	8.98318e-14	21	76				
BTBD7	55727	broad.mit.edu	37	14	93708889	93708889	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:93708889G>A	ENST00000334746.5	-	11	3436	c.3129C>T	c.(3127-3129)gcC>gcT	p.A1043A	BTBD7_ENST00000554565.1_Silent_p.A692A|BTBD7_ENST00000393170.2_Silent_p.A617A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1043					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATTTTCTGGGGCTGCCAAAG	0.522																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(3127-3129)gcC>gcT		BTB (POZ) domain containing 7							116.0	123.0	121.0					14																	93708889		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93708889G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3129C>T	14.37:g.93708889G>A						BTBD7_ENST00000393170.2_Silent_p.A617A|BTBD7_ENST00000554565.1_Silent_p.A692A	p.A1043A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3436	-		all_cancers(154;0.08)	1043					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.3129C>T	CCDS32146.1																																																																																				0.522	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		65	181	0	0	0	1	0	65	181				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	53	0	0	0	1	0	3	53				
SPANXN2	494119	broad.mit.edu	37	X	142795498	142795498	+	Silent	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:142795498A>G	ENST00000370498.1	-	2	933	c.180T>C	c.(178-180)caT>caC	p.H60H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	60										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTATTTTCGTATGCTTCCTGT	0.448																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(178-180)caT>caC		SPANX family, member N2							245.0	213.0	224.0					X																	142795498		2203	4300	6503	SO:0001819	synonymous_variant	494119							g.chrX:142795498A>G		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.180T>C	X.37:g.142795498A>G							p.H60H	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	933	-	Acute lymphoblastic leukemia(192;6.56e-05)		60					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.180T>C	CCDS35419.1																																																																																				0.448	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		57	13	0	0	0	1	0	57	13				
ZNF511	118472	broad.mit.edu	37	10	135123745	135123745	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:135123745C>T	ENST00000359035.3	+	4	510	c.507C>T	c.(505-507)caC>caT	p.H169H	ZNF511_ENST00000368554.4_Silent_p.H104H|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000361518.5_Silent_p.H169H|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TGAGGATGCACCTGTACCCCG	0.512																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(505-507)caC>caT		zinc finger protein 511							99.0	99.0	99.0					10																	135123745		2203	4300	6503	SO:0001819	synonymous_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123745C>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.507C>T	10.37:g.135123745C>T						ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Silent_p.H104H|ZNF511_ENST00000361518.5_Silent_p.H169H	p.H169H			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	4	510	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	169					A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37	c.507C>T																																																																																					0.512	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		109	39	0	0	0	1	0	109	39				
TEX10	54881	broad.mit.edu	37	9	103109424	103109424	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:103109424T>C	ENST00000374902.4	-	3	621	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	TEX10_ENST00000537512.1_Missense_Mutation_p.M84V|TEX10_ENST00000535814.1_Missense_Mutation_p.M152V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	149						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGTGAGTCATGGCACTAGAG	0.423																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(445-447)Atg>Gtg		testis expressed 10							100.0	106.0	104.0					9																	103109424		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109424T>C	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.445A>G	9.37:g.103109424T>C	ENSP00000364037:p.Met149Val					TEX10_ENST00000537512.1_Missense_Mutation_p.M84V|TEX10_ENST00000535814.1_Missense_Mutation_p.M152V	p.M149V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	621	-		Acute lymphoblastic leukemia(62;0.0527)	149					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.445A>G	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034507	0.54896	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.63913	-0.07;-0.07;-0.07	5.56	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.034418	0.85682	D	0.000000	T	0.80497	0.4634	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.81914	0.995;0.976;0.995	T	0.82999	-0.0178	10	0.87932	D	0	-13.6434	12.5526	0.56236	0.0:0.0:0.1393:0.8607	.	84;152;149	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	V	152;149;84	ENSP00000444555:M152V;ENSP00000364037:M149V;ENSP00000438120:M84V	ENSP00000364037:M149V	M	-	1	0	TEX10	102149245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	0.897000	0.36392	0.482000	0.46254	ATG		0.423	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		70	40	0	0	0	1	0	70	40				
SDK1	221935	broad.mit.edu	37	7	4153692	4153692	+	Silent	SNP	C	C	T	rs138943707		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:4153692C>T	ENST00000404826.2	+	25	3748	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N	SDK1_ENST00000389531.3_Silent_p.N1203N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1203	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N1203N(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAGTACAACGGGAACCCCG	0.592																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.N1203N(1)	upper_aerodigestive_tract(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3607-3609)aaC>aaT		sidekick cell adhesion molecule 1		C		0,4406		0,0,2203	56.0	54.0	54.0		3609	-6.2	0.9	7	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SDK1	NM_152744.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1203/2214	4153692	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4153692C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3609C>T	7.37:g.4153692C>T						SDK1_ENST00000389531.3_Silent_p.N1203N	p.N1203N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	25	3748	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1203			Fibronectin type-III 6.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.3609C>T	CCDS34590.1																																																																																				0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		19	34	0	0	0	1	0	19	34				
PPP1R3A	5506	broad.mit.edu	37	7	113519400	113519400	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:113519400G>A	ENST00000284601.3	-	4	1815	c.1747C>T	c.(1747-1749)Cat>Tat	p.H583Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	583					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGGTGAATGAGACACATCT	0.488																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1747-1749)Cat>Tat		protein phosphatase 1, regulatory subunit 3A							117.0	112.0	114.0					7																	113519400		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519400G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1747C>T	7.37:g.113519400G>A	ENSP00000284601:p.His583Tyr						p.H583Y	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1815	-			583					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1747C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585676	0.46110	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.02	4.18	0.49190	.	1.046210	0.07517	N	0.909899	T	0.21590	0.0520	M	0.67953	2.075	0.09310	N	1	B	0.22480	0.07	B	0.15870	0.014	T	0.26538	-1.0100	10	0.72032	D	0.01	-0.4713	7.466	0.27322	0.1403:0.0:0.7242:0.1355	.	583	Q16821	PPR3A_HUMAN	Y	583	ENSP00000284601:H583Y	ENSP00000284601:H583Y	H	-	1	0	PPP1R3A	113306636	0.000000	0.05858	0.002000	0.10522	0.525000	0.34531	0.065000	0.14466	0.846000	0.35142	0.655000	0.94253	CAT		0.488	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		71	63	0	0	0	1	0	71	63				
NLRC4	58484	broad.mit.edu	37	2	32476214	32476214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:32476214C>T	ENST00000404025.2	-	5	1207	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R240Q|NLRC4_ENST00000402280.1_Missense_Mutation_p.R240Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACCCTCTGCCGCAGCTTCAG	0.498																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(718-720)cGg>cAg		NLR family, CARD domain containing 4							82.0	85.0	84.0					2																	32476214		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476214C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.719G>A	2.37:g.32476214C>T	ENSP00000385090:p.Arg240Gln					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R240Q|NLRC4_ENST00000402280.1_Missense_Mutation_p.R240Q	p.R240Q			Q9NPP4	NLRC4_HUMAN			5	1207	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		240			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.719G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	0.324	-0.960121	0.02267	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.22336	1.96;1.96;1.96	3.27	1.37	0.22104	NACHT nucleoside triphosphatase (1);	0.491573	0.16027	N	0.233022	T	0.05273	0.0140	N	0.01352	-0.895	0.26474	N	0.97524	B	0.15141	0.012	B	0.06405	0.002	T	0.43065	-0.9414	9	0.02654	T	1	-3.0224	7.8828	0.29631	0.0:0.7969:0.0:0.2031	.	240	Q9NPP4	NLRC4_HUMAN	Q	240	ENSP00000354159:R240Q;ENSP00000385428:R240Q;ENSP00000385090:R240Q	ENSP00000354159:R240Q	R	-	2	0	NLRC4	32329718	0.000000	0.05858	0.549000	0.28204	0.358000	0.29455	-0.045000	0.12003	0.201000	0.20466	0.543000	0.68304	CGG		0.498	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		36	83	0	0	0	1	0	36	83				
SYK	6850	broad.mit.edu	37	9	93636555	93636555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:93636555C>T	ENST00000375754.4	+	8	1133	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SYK_ENST00000375747.1_Missense_Mutation_p.P306S|SYK_ENST00000375746.1_Missense_Mutation_p.P329S|SYK_ENST00000375751.4_Missense_Mutation_p.P306S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	329	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAACTTGCACCCTGGGCTGC	0.473			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(985-987)Ccc>Tcc		spleen tyrosine kinase							93.0	86.0	88.0					9																	93636555		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93636555C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.985C>T	9.37:g.93636555C>T	ENSP00000364907:p.Pro329Ser					SYK_ENST00000375751.4_Missense_Mutation_p.P306S|SYK_ENST00000375747.1_Missense_Mutation_p.P306S|SYK_ENST00000375746.1_Missense_Mutation_p.P329S	p.P329S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			8	1133	+			329			Linker.			Missense_Mutation	SNP	ENST00000375754.4	37	c.985C>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	2.743	-0.261863	0.05791	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.72835	-0.69;-0.65;-0.65;-0.69	4.24	-1.41	0.08941	.	1.082080	0.07070	N	0.835241	T	0.41282	0.1152	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18429	-1.0337	10	0.09084	T	0.74	.	0.8881	0.01249	0.1602:0.3801:0.1564:0.3034	.	306;329	P43405-2;P43405	.;KSYK_HUMAN	S	329;306;306;329	ENSP00000364907:P329S;ENSP00000364904:P306S;ENSP00000364899:P306S;ENSP00000364898:P329S	ENSP00000364898:P329S	P	+	1	0	SYK	92676376	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.414000	0.01037	-0.389000	0.07786	-0.333000	0.08304	CCC		0.473	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			19	33	0	0	0	1	0	19	33				
OR12D2	26529	broad.mit.edu	37	6	29364878	29364878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:29364878G>A	ENST00000383555.2	+	1	463	c.402G>A	c.(400-402)atG>atA	p.M134I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTGTCATCATGAACCCTCAGC	0.522																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(400-402)atG>atA		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							129.0	126.0	127.0					6																	29364878		1510	2709	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364878G>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.402G>A	6.37:g.29364878G>A	ENSP00000373047:p.Met134Ile					OR5V1_ENST00000377154.1_Intron	p.M134I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	463	+			134					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.402G>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039842	0.35989	.	.	ENSG00000168787	ENST00000383555	T	0.00551	6.65	3.94	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.00724	0.0024	M	0.83603	2.65	0.31845	N	0.622959	P	0.49783	0.928	P	0.54100	0.742	T	0.35425	-0.9789	10	0.72032	D	0.01	.	12.4956	0.55927	0.0:0.0:0.8314:0.1686	.	134	P58182	O12D2_HUMAN	I	134	ENSP00000373047:M134I	ENSP00000373047:M134I	M	+	3	0	OR12D2	29472857	1.000000	0.71417	0.958000	0.39756	0.100000	0.18952	2.537000	0.45702	0.840000	0.34995	0.205000	0.17691	ATG		0.522	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			63	51	0	0	0	1	0	63	51				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	429	0	0	0	1	0	6	429				
ZNF43	7594	broad.mit.edu	37	19	21991252	21991252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:21991252C>A	ENST00000354959.4	-	4	1756	c.1587G>T	c.(1585-1587)aaG>aaT	p.K529N	ZNF43_ENST00000595461.1_Missense_Mutation_p.K523N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K523N|ZNF43_ENST00000594012.1_Missense_Mutation_p.K523N	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAGTTATCTTATGTTCAG	0.353																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1567-1569)aaG>aaT		zinc finger protein 43							58.0	62.0	60.0					19																	21991252		2187	4287	6474	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991252C>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1587G>T	19.37:g.21991252C>A	ENSP00000347045:p.Lys529Asn					ZNF43_ENST00000598381.1_Missense_Mutation_p.K523N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K523N|ZNF43_ENST00000354959.4_Missense_Mutation_p.K529N	p.K523N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2083	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	529					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1569G>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409237	0.25378	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.07567	3.18	1.76	-0.867	0.10655	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	N	0.17564	0.495	0.18873	N	0.999986	D	0.67145	0.996	D	0.72625	0.978	T	0.26087	-1.0113	9	0.72032	D	0.01	.	6.0519	0.19790	0.0:0.3444:0.0:0.6556	.	529	P17038	ZNF43_HUMAN	N	528;529	ENSP00000347045:K529N	ENSP00000347045:K529N	K	-	3	2	ZNF43	21783092	0.000000	0.05858	0.000000	0.03702	0.901000	0.52897	-0.472000	0.06623	-0.330000	0.08514	0.305000	0.20034	AAG		0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		25	103	1	0	6.32553e-13	1	7.0994e-13	25	103				
DUOX1	53905	broad.mit.edu	37	15	45454041	45454041	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:45454041T>G	ENST00000321429.4	+	31	4369	c.3962T>G	c.(3961-3963)tTc>tGc	p.F1321C	DUOX1_ENST00000561166.1_Missense_Mutation_p.F967C|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1321C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1321	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TACCACCCCTTCACACTGACC	0.657																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3961-3963)tTc>tGc		dual oxidase 1							100.0	86.0	91.0					15																	45454041		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45454041T>G	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3962T>G	15.37:g.45454041T>G	ENSP00000317997:p.Phe1321Cys					DUOX1_ENST00000389037.3_Missense_Mutation_p.F1321C|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.F967C	p.F1321C	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	31	4369	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1321			FAD-binding FR-type.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.3962T>G	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129890	0.77549	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.97455	-4.39;-4.39	4.22	4.22	0.49857	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99246	1.0886	10	0.87932	D	0	-28.2128	11.5538	0.50735	0.0:0.0:0.0:1.0	.	1321	Q9NRD9	DUOX1_HUMAN	C	1321	ENSP00000317997:F1321C;ENSP00000373689:F1321C	ENSP00000317997:F1321C	F	+	2	0	DUOX1	43241333	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.843000	0.86859	1.899000	0.54978	0.454000	0.30748	TTC		0.657	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		20	23	0	0	0	1	0	20	23				
ZNF479	90827	broad.mit.edu	37	7	57187795	57187795	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:57187795C>T	ENST00000331162.4	-	5	1597	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AAGGCTTTGCCACATTCTTCA	0.433																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1327-1329)Ggc>Agc		zinc finger protein 479							35.0	34.0	34.0					7																	57187795		1772	3810	5582	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187795C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1327G>A	7.37:g.57187795C>T	ENSP00000333776:p.Gly443Ser						p.G443S	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1597	-			443						Missense_Mutation	SNP	ENST00000331162.4	37	c.1327G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	16.29	3.081554	0.55753	.	.	ENSG00000185177	ENST00000331162	T	0.07216	3.21	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	L	0.50333	1.59	0.27175	N	0.960804	D	0.89917	1.0	D	0.91635	0.999	T	0.05920	-1.0856	9	0.72032	D	0.01	.	7.4593	0.27285	0.0:1.0:0.0:0.0	.	443	Q96JC4	ZN479_HUMAN	S	443	ENSP00000333776:G443S	ENSP00000333776:G443S	G	-	1	0	ZNF479	57191737	0.948000	0.32251	0.137000	0.22149	0.131000	0.20780	1.416000	0.34759	0.446000	0.26666	0.449000	0.29647	GGC		0.433	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		25	71	0	0	0	1	0	25	71				
G6PC3	92579	broad.mit.edu	37	17	42152387	42152387	+	Missense_Mutation	SNP	C	C	T	rs374402992		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:42152387C>T	ENST00000269097.4	+	4	698	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	156					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTCCTTTTGGCGGTTGGCTTG	0.547																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(466-468)gCg>gTg		glucose 6 phosphatase, catalytic, 3		C	VAL/ALA	0,4406		0,0,2203	259.0	241.0	247.0		467	5.4	1.0	17		247	1,8599	1.2+/-3.3	0,1,4299	no	missense	G6PC3	NM_138387.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	156/347	42152387	1,13005	2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152387C>T	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.467C>T	17.37:g.42152387C>T	ENSP00000269097:p.Ala156Val						p.A156V	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	698	+		Breast(137;0.00637)|Prostate(33;0.0313)	156					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.467C>T	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640776	0.87859	0.0	1.16E-4	ENSG00000141349	ENST00000269097	T	0.73681	-0.77	5.45	5.45	0.79879	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.112575	0.64402	D	0.000015	T	0.80879	0.4708	L	0.48218	1.51	0.50632	D	0.999883	D	0.89917	1.0	D	0.71414	0.973	T	0.75470	-0.3306	10	0.19590	T	0.45	-19.5339	16.5723	0.84622	0.0:1.0:0.0:0.0	.	156	Q9BUM1	G6PC3_HUMAN	V	156	ENSP00000269097:A156V	ENSP00000269097:A156V	A	+	2	0	G6PC3	39507913	0.997000	0.39634	0.951000	0.38953	0.817000	0.46193	3.664000	0.54525	2.714000	0.92807	0.655000	0.94253	GCG		0.547	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		5	324	0	0	0	1	0	5	324				
PCDHA9	9752	broad.mit.edu	37	5	140228540	140228540	+	Missense_Mutation	SNP	C	C	G	rs370500347		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:140228540C>G	ENST00000532602.1	+	1	1493	c.460C>G	c.(460-462)Cta>Gta	p.L154V	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.L154V|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	154	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTTTCCACTAGAGGGCGC	0.547																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(460-462)Cta>Gta									53.0	50.0	51.0					5																	140228540		2202	4291	6493	SO:0001583	missense	9752							g.chr5:140228540C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.460C>G	5.37:g.140228540C>G	ENSP00000436042:p.Leu154Val					PCDHA9_ENST00000532602.1_Missense_Mutation_p.L154V|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.L154V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1184	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.460C>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851721	0.71719	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.51071	0.72;0.72	4.13	2.32	0.28847	Cadherin (3);Cadherin-like (1);	0.000000	0.26373	U	0.024749	T	0.68723	0.3032	M	0.88310	2.945	0.28067	N	0.932734	P;D	0.76494	0.623;0.999	B;D	0.87578	0.424;0.998	T	0.61496	-0.7051	10	0.54805	T	0.06	.	9.1218	0.36791	0.0:0.7492:0.0:0.2508	.	154;154	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	154	ENSP00000436042:L154V;ENSP00000367362:L154V	ENSP00000367362:L154V	L	+	1	2	PCDHA9	140208724	0.000000	0.05858	0.999000	0.59377	0.995000	0.86356	-0.506000	0.06359	1.056000	0.40484	0.591000	0.81541	CTA		0.547	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	22	0	0	0	1	0	7	22				
ZFC3H1	196441	broad.mit.edu	37	12	72050969	72050969	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:72050969C>T	ENST00000378743.3	-	2	1069	c.711G>A	c.(709-711)ttG>ttA	p.L237L	ZFC3H1_ENST00000548100.1_Silent_p.L237L|ZFC3H1_ENST00000552037.1_Silent_p.L237L|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	237					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTCTAGTTCCAACTGTATTT	0.323																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(709-711)ttG>ttA		zinc finger, C3H1-type containing							132.0	115.0	121.0					12																	72050969		1839	4090	5929	SO:0001819	synonymous_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72050969C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.711G>A	12.37:g.72050969C>T						ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.L237L|ZFC3H1_ENST00000552037.1_Silent_p.L237L	p.L237L	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			2	1069	-			237					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	ENST00000378743.3	37	c.711G>A	CCDS41813.1																																																																																				0.323	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		21	29	0	0	0	1	0	21	29				
HECW1	23072	broad.mit.edu	37	7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:43519258G>A	ENST00000395891.2	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1050	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(3148-3150)cGa>cAa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							160.0	154.0	156.0					7																	43519258		1938	4139	6077	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519258G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3149G>A	7.37:g.43519258G>A	ENSP00000379228:p.Arg1050Gln					HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	p.R1050Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			17	3754	+			1050			WW 2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3149G>A	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.835501|5.835501	0.97003|0.97003	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000429529|ENST00000395891;ENST00000453890;ENST00000265522	.|D;D	.|0.85088	.|-1.94;-1.94	5.66|5.66	5.66|5.66	0.87406|0.87406	.|WW/Rsp5/WWP (4);	.|0.106591	.|0.64402	.|D	.|0.000010	D|D	0.93890|0.93890	0.8045|0.8045	M|M	0.88031|0.88031	2.925|2.925	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.993;0.998	D|D	0.93966|0.93966	0.7245|0.7245	5|10	.|0.56958	.|D	.|0.05	.|.	19.7543|19.7543	0.96284|0.96284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1016;1050	.|B4DH42;Q76N89	.|.;HECW1_HUMAN	K|Q	3|1050;1016;1050	.|ENSP00000379228:R1050Q;ENSP00000407774:R1016Q	.|ENSP00000265522:R1050Q	E|R	+|+	1|2	0|0	HECW1|HECW1	43485783|43485783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.840000|9.840000	0.99478|0.99478	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.517	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		99	91	0	0	0	1	0	99	91				
ATR	545	broad.mit.edu	37	3	142277573	142277573	+	Missense_Mutation	SNP	A	A	T	rs145459793		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:142277573A>T	ENST00000350721.4	-	8	1899	c.1778T>A	c.(1777-1779)aTg>aAg	p.M593K	ATR_ENST00000383101.3_Missense_Mutation_p.M529K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	593					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAGTGAGAGCATACCACATAA	0.333								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1777-1779)aTg>aAg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							209.0	221.0	217.0					3																	142277573		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142277573A>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1778T>A	3.37:g.142277573A>T	ENSP00000343741:p.Met593Lys					ATR_ENST00000383101.3_Missense_Mutation_p.M529K	p.M593K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			8	1899	-			593					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1778T>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306072	0.60305	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.64438	-0.1;-0.1	5.77	5.77	0.91146	Armadillo-type fold (1);	0.155857	0.56097	D	0.000030	T	0.51024	0.1650	L	0.27053	0.805	0.47862	D	0.999533	P	0.38335	0.627	B	0.35114	0.196	T	0.58205	-0.7677	10	0.87932	D	0	-15.828	16.068	0.80903	1.0:0.0:0.0:0.0	.	593	Q13535	ATR_HUMAN	K	593;529;210	ENSP00000343741:M593K;ENSP00000372581:M529K	ENSP00000343741:M593K	M	-	2	0	ATR	143760263	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.710000	0.74670	2.326000	0.78906	0.533000	0.62120	ATG		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		178	286	0	0	0	1	0	178	286				
SLC35F1	222553	broad.mit.edu	37	6	118475693	118475693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:118475693G>T	ENST00000360388.4	+	2	460	c.259G>T	c.(259-261)Gat>Tat	p.D87Y		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	87					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTGTCAGAAGATTTCCACGC	0.453																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(259-261)Gat>Tat		solute carrier family 35, member F1							228.0	216.0	220.0					6																	118475693		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118475693G>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.259G>T	6.37:g.118475693G>T	ENSP00000353557:p.Asp87Tyr						p.D87Y	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	460	+			87					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.259G>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.034317	0.54896	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.92	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.38838	1.175	0.49582	D	0.999804	D	0.62365	0.991	P	0.62649	0.905	T	0.60747	-0.7202	9	0.51188	T	0.08	.	14.9554	0.71110	0.0681:0.0:0.9319:0.0	.	87	Q5T1Q4	S35F1_HUMAN	Y	87	.	ENSP00000353557:D87Y	D	+	1	0	SLC35F1	118582386	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.762000	0.74950	1.519000	0.48950	0.655000	0.94253	GAT		0.453	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		104	32	1	0	7.08676e-66	1	8.84797e-66	104	32				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																729171							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	96	0	0	0	1	0	5	96				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		4	123	0	0	0	1	0	4	123				
NRK	203447	broad.mit.edu	37	X	105153470	105153470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105153470G>C	ENST00000243300.9	+	13	2140	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	NRK_ENST00000428173.2_Missense_Mutation_p.E614Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	613					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATTCCAGTAGAGGGGCAAAC	0.493										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1840-1842)Gag>Cag		Nik related kinase							70.0	64.0	66.0					X																	105153470		1988	4161	6149	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153470G>C	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1837G>C	X.37:g.105153470G>C	ENSP00000434830:p.Glu613Gln	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.E613Q	p.E614Q			Q7Z2Y5	NRK_HUMAN			13	2143	+			613					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1840G>C		.	.	.	.	.	.	.	.	.	.	G	4.375	0.069243	0.08436	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78246	-1.14;-1.16	4.25	2.45	0.29901	.	0.474989	0.18147	N	0.150207	T	0.60805	0.2297	N	0.24115	0.695	0.39781	D	0.972299	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.001	T	0.53208	-0.8471	10	0.41790	T	0.15	.	5.9336	0.19152	0.1115:0.4069:0.4815:0.0	.	281;613	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Q	613;614	ENSP00000434830:E613Q;ENSP00000438378:E614Q	ENSP00000434830:E613Q	E	+	1	0	NRK	105040126	1.000000	0.71417	0.786000	0.31890	0.310000	0.27922	1.554000	0.36266	0.539000	0.28788	0.513000	0.50165	GAG		0.493	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		12	11	0	0	0	1	0	12	11				
PCDHB16	57717	broad.mit.edu	37	5	140562231	140562231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:140562231T>C	ENST00000361016.2	+	1	1252	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	33					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGGGGTCCTATTCCGTAGT	0.522																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(97-99)Tat>Cat									105.0	123.0	117.0					5																	140562231		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562231T>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.97T>C	5.37:g.140562231T>C	ENSP00000354293:p.Tyr33His						p.Y33H	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1252	+			33					B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.97T>C	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751442	0.89753	.	.	ENSG00000196963	ENST00000361016	T	0.58060	0.36	4.84	4.84	0.62591	Cadherin, N-terminal (1);	0.000000	0.31427	N	0.007673	D	0.83266	0.5217	H	0.98786	4.33	0.38249	D	0.941553	D	0.89917	1.0	D	0.91635	0.999	D	0.91236	0.5018	10	0.87932	D	0	.	14.4209	0.67183	0.0:0.0:0.0:1.0	.	33	Q9NRJ7	PCDBG_HUMAN	H	33	ENSP00000354293:Y33H	ENSP00000354293:Y33H	Y	+	1	0	PCDHB16	140542415	1.000000	0.71417	0.121000	0.21740	0.173000	0.22820	7.380000	0.79704	1.800000	0.52685	0.533000	0.62120	TAT		0.522	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		55	90	0	0	0	1	0	55	90				
GALNT5	11227	broad.mit.edu	37	2	158142636	158142636	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:158142636G>C	ENST00000259056.4	+	3	2216	c.1731G>C	c.(1729-1731)caG>caC	p.Q577H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	577	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGGAGCACAGAATGCAACAG	0.358																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(1729-1731)caG>caC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							75.0	84.0	81.0					2																	158142636		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158142636G>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1731G>C	2.37:g.158142636G>C	ENSP00000259056:p.Gln577His						p.Q577H	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			3	2216	+			577			Catalytic subdomain A.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1731G>C	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890789	0.52014	.	.	ENSG00000136542	ENST00000259056	T	0.61627	0.09	5.61	1.63	0.23807	Glycosyl transferase, family 2 (1);	0.319926	0.33457	N	0.004889	T	0.60971	0.2310	L	0.52759	1.655	0.23665	N	0.997163	D	0.63880	0.993	P	0.61477	0.889	T	0.52049	-0.8627	10	0.59425	D	0.04	.	5.2533	0.15534	0.2984:0.0:0.5729:0.1287	.	577	Q7Z7M9	GALT5_HUMAN	H	577	ENSP00000259056:Q577H	ENSP00000259056:Q577H	Q	+	3	2	GALNT5	157850882	0.047000	0.20315	0.825000	0.32803	0.860000	0.49131	0.080000	0.14802	0.012000	0.14892	-0.345000	0.07892	CAG		0.358	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		32	32	0	0	0	1	0	32	32				
CHAF1A	10036	broad.mit.edu	37	19	4433520	4433520	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:4433520G>A	ENST00000301280.5	+	13	2758	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	886	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAAGAAGCGCAGGCACGAC	0.557								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2656-2658)cGc>cAc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							27.0	29.0	28.0					19																	4433520		2185	4259	6444	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433520G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2657G>A	19.37:g.4433520G>A	ENSP00000301280:p.Arg886His						p.R886H	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2758	+		Hepatocellular(1079;0.137)	886			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2657G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749658	0.69533	.	.	ENSG00000167670	ENST00000301280	T	0.33654	1.4	5.62	4.5	0.54988	.	.	.	.	.	T	0.47322	0.1439	L	0.54323	1.7	0.23186	N	0.998153	D	0.71674	0.998	P	0.54140	0.743	T	0.33317	-0.9873	8	.	.	.	-29.3118	14.5195	0.67842	0.0:0.2489:0.7511:0.0	.	886	Q13111	CAF1A_HUMAN	H	886	ENSP00000301280:R886H	.	R	+	2	0	CHAF1A	4384520	1.000000	0.71417	0.971000	0.41717	0.906000	0.53458	3.821000	0.55700	2.653000	0.90120	0.650000	0.86243	CGC		0.557	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		28	61	0	0	0	1	0	28	61				
SCN3A	6328	broad.mit.edu	37	2	165947745	165947745	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:165947745C>A	ENST00000360093.3	-	28	5409	c.4918G>T	c.(4918-4920)Ggg>Tgg	p.G1640W	SCN3A_ENST00000283254.7_Missense_Mutation_p.G1640W|SCN3A_ENST00000540861.1_Missense_Mutation_p.G123W|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1591W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1640					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGCGGATCCCCTTTGCTCCT	0.493																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4918-4920)Ggg>Tgg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						104.0	107.0	106.0					2																	165947745		2203	4297	6500	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947745C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4918G>T	2.37:g.165947745C>A	ENSP00000353206:p.Gly1640Trp					AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1640W|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1591W|SCN3A_ENST00000540861.1_Missense_Mutation_p.G123W	p.G1640W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5409	-			1640					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4918G>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971856	0.74246	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	D	0.99603	0.9856	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97732	1.0203	10	0.87932	D	0	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	1591;1591;1640	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	W	1640;1640;1591;123	ENSP00000353206:G1640W;ENSP00000283254:G1640W;ENSP00000386726:G1591W;ENSP00000439920:G123W	ENSP00000283254:G1640W	G	-	1	0	SCN3A	165655991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.890000	0.99128	0.585000	0.79938	GGG		0.493	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		49	186	1	0	8.78508e-14	1	9.96587e-14	49	186				
PLOD2	5352	broad.mit.edu	37	3	145795702	145795702	+	Intron	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:145795702T>A	ENST00000360060.3	-	14	1678				PLOD2_ENST00000494950.1_Missense_Mutation_p.R449W|PLOD2_ENST00000461497.1_Missense_Mutation_p.R164W|PLOD2_ENST00000282903.5_Missense_Mutation_p.R504W|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2						cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTTTTTCCCTTTGTAAAGTC	0.348																																						ENST00000282903.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1510-1512)Agg>Tgg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	Vitamin C(DB00126)						104.0	116.0	112.0					3																	145795702		2203	4299	6502	SO:0001627	intron_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145795702T>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1501-1020A>T	3.37:g.145795702T>A						PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000461497.1_Missense_Mutation_p.R164W|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.R449W	p.R504W	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN			14	1687	-			500					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1510A>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.110694	0.77210	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000494950	D;D;D	0.84660	-1.88;-1.88;-1.88	6.0	6.0	0.97389	.	0.085770	0.50627	D	0.000103	D	0.86855	0.6033	N	0.19112	0.55	0.51012	D	0.999903	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.962;0.991;0.98	D	0.87097	0.2176	10	0.39692	T	0.17	-6.7544	16.537	0.84375	0.0:0.0:0.0:1.0	.	449;504;164	E7ETU9;O00469-2;B3KWS3	.;.;.	W	164;504;449	ENSP00000419354:R164W;ENSP00000282903:R504W;ENSP00000420094:R449W	ENSP00000282903:R504W	R	-	1	2	PLOD2	147278392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.886000	0.69743	2.296000	0.77279	0.524000	0.50904	AGG		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		53	327	0	0	0	1	0	53	327				
DDX24	57062	broad.mit.edu	37	14	94526560	94526560	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:94526560G>A	ENST00000330836.5	-	5	1928	c.1797C>T	c.(1795-1797)tgC>tgT	p.C599C	DDX24_ENST00000555054.1_Silent_p.C556C|DDX24_ENST00000544005.1_Silent_p.C349C	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	599	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGCGTTTGATGCAGGAGATAC	0.498																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1795-1797)tgC>tgT		DEAD (Asp-Glu-Ala-Asp) box helicase 24							133.0	117.0	122.0					14																	94526560		2203	4300	6503	SO:0001819	synonymous_variant	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526560G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1797C>T	14.37:g.94526560G>A						DDX24_ENST00000555054.1_Silent_p.C556C|DDX24_ENST00000544005.1_Silent_p.C349C	p.C599C	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1928	-		all_cancers(154;0.12)	599			Helicase C-terminal.		E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	c.1797C>T	CCDS9918.1																																																																																				0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		19	73	0	0	0	1	0	19	73				
CLSTN2	64084	broad.mit.edu	37	3	140275400	140275400	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:140275400G>A	ENST00000458420.3	+	11	1910	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	574					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAAGGTGACGACATTGGGAA	0.502										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1720-1722)Gac>Aac		calsyntenin 2							245.0	211.0	222.0					3																	140275400		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140275400G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1720G>A	3.37:g.140275400G>A	ENSP00000402460:p.Asp574Asn	HNSCC(16;0.037)					p.D574N	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			11	1910	+			574					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1720G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747719	0.49257	.	.	ENSG00000158258	ENST00000458420	T	0.35973	1.28	5.39	5.39	0.77823	.	0.040781	0.85682	D	0.000000	T	0.54822	0.1882	L	0.52011	1.625	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.47649	-0.9101	9	.	.	.	9.1724	16.9971	0.86370	0.0:0.0:1.0:0.0	.	574	Q9H4D0	CSTN2_HUMAN	N	574	ENSP00000402460:D574N	.	D	+	1	0	CLSTN2	141758090	1.000000	0.71417	0.955000	0.39395	0.205000	0.24178	9.813000	0.99286	2.692000	0.91855	0.563000	0.77884	GAC		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		46	302	0	0	0	1	0	46	302				
NBPF22P	285622	broad.mit.edu	37	5	85578434	85578434	+	RNA	SNP	G	G	T	rs556527515		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:85578434G>T	ENST00000590707.1	+	0	157					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		TGTTCATCAAGTTTTTCTCAA	0.418																																						ENST00000590707.1																			0																																																			285622							g.chr5:85578434G>T	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578434G>T								NR_003719.2						0	157	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.418	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		8	3	1	0	0.27861	1	0.27861	8	3				
TRAM1L1	133022	broad.mit.edu	37	4	118005838	118005838	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:118005838G>T	ENST00000310754.4	-	1	898	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	238	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGTAAAACAGGCCGCACATG	0.388																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(712-714)Ctg>Atg		translocation associated membrane protein 1-like 1							76.0	76.0	76.0					4																	118005838		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005838G>T	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.712C>A	4.37:g.118005838G>T	ENSP00000309402:p.Leu238Met						p.L238M	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	898	-			238			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.712C>A	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480897	0.26598	.	.	ENSG00000174599	ENST00000310754	D	0.85861	-2.04	3.88	2.07	0.26955	TRAM/LAG1/CLN8 homology domain (3);	0.213014	0.41194	D	0.000939	D	0.89469	0.6724	M	0.70903	2.155	0.58432	D	0.999996	D	0.71674	0.998	D	0.73380	0.98	D	0.87748	0.2590	10	0.62326	D	0.03	-9.9598	8.4124	0.32651	0.0:0.1691:0.6562:0.1747	.	238	Q8N609	TR1L1_HUMAN	M	238	ENSP00000309402:L238M	ENSP00000309402:L238M	L	-	1	2	TRAM1L1	118225286	1.000000	0.71417	0.622000	0.29159	0.060000	0.15804	3.844000	0.55873	0.548000	0.28955	0.655000	0.94253	CTG		0.388	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		4	103	1	0	0.00909568	1	0.00922687	4	103				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																						ENST00000327064.4																			2	Substitution - Missense(2)	p.A202V(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(604-606)gCc>gTc		coactivator-associated arginine methyltransferase 1							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	795	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		7	560	0	0	0	1	0	7	560				
HPN	3249	broad.mit.edu	37	19	35551281	35551281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35551281G>A	ENST00000262626.2	+	8	1310	c.485G>A	c.(484-486)cGc>cAc	p.R162H	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.R162H|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	162					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCGTGGACCGCATCGTGGGA	0.692																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(484-486)cGc>cAc		hepsin	Coagulation factor VIIa(DB00036)						43.0	49.0	47.0					19																	35551281		2203	4298	6501	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551281G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.485G>A	19.37:g.35551281G>A	ENSP00000262626:p.Arg162His					HPN_ENST00000392226.1_Missense_Mutation_p.R162H|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron	p.R162H	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		8	1310	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		162					B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.485G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164659	0.94727	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.92699	-3.09;-3.09	4.92	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.68943	0.946;0.908;0.961	D	0.95589	0.8653	10	0.87932	D	0	.	15.6684	0.77252	0.0:0.0:1.0:0.0	.	134;162;162	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	H	162;162;134	ENSP00000262626:R162H;ENSP00000376060:R162H	ENSP00000262626:R162H	R	+	2	0	HPN	40243121	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	8.860000	0.92272	2.561000	0.86390	0.555000	0.69702	CGC		0.692	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		6	110	0	0	0	1	0	6	110				
BCL11B	64919	broad.mit.edu	37	14	99641455	99641455	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:99641455A>C	ENST00000357195.3	-	4	1727	c.1718T>G	c.(1717-1719)gTg>gGg	p.V573G	BCL11B_ENST00000345514.2_Missense_Mutation_p.V502G|BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	573	Gly-rich.				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)		gaccccgggcACCCCACCACC	0.711			T	TLX3	T-ALL																																	ENST00000345514.2				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.(1504-1506)gTg>gGg		B-cell CLL/lymphoma 11B (zinc finger protein)							5.0	8.0	7.0					14																	99641455		2053	3959	6012	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641455A>C	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.1718T>G	14.37:g.99641455A>C	ENSP00000349723:p.Val573Gly					BCL11B_ENST00000443726.2_Missense_Mutation_p.V379G|BCL11B_ENST00000357195.3_Missense_Mutation_p.V573G	p.V502G	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1771	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	573					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1505T>G	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	A	0.347	-0.946942	0.02304	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.11063	2.82;2.83;2.81	3.69	-1.74	0.08056	.	6.479460	0.00166	N	0.000002	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B	0.31705	0.031;0.336	B;B	0.28232	0.007;0.087	T	0.18304	-1.0341	10	0.27082	T	0.32	.	2.2852	0.04124	0.5572:0.2104:0.0908:0.1416	.	502;573	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	G	573;502;379	ENSP00000349723:V573G;ENSP00000280435:V502G;ENSP00000387419:V379G	ENSP00000280435:V502G	V	-	2	0	BCL11B	98711208	0.238000	0.23825	0.021000	0.16686	0.430000	0.31655	0.922000	0.28734	-0.383000	0.07858	0.459000	0.35465	GTG		0.711	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		7	14	0	0	0	1	0	7	14				
PDE1A	5136	broad.mit.edu	37	2	183050726	183050726	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:183050726T>A	ENST00000410103.1	-	14	1540	c.1457A>T	c.(1456-1458)tAt>tTt	p.Y486F	PDE1A_ENST00000536095.1_Missense_Mutation_p.Y382F|PDE1A_ENST00000456212.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000435564.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000351439.5_Missense_Mutation_p.Y470F|PDE1A_ENST00000409365.1_Missense_Mutation_p.Y470F|PDE1A_ENST00000346717.4_Missense_Mutation_p.Y452F|PDE1A_ENST00000331935.6_Missense_Mutation_p.Y486F|PDE1A_ENST00000358139.2_Missense_Mutation_p.Y486F	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	486	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GTCTGGGGAATAGGACCCATC	0.458																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(1456-1458)tAt>tTt		phosphodiesterase 1A, calmodulin-dependent							202.0	171.0	182.0					2																	183050726		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183050726T>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1457A>T	2.37:g.183050726T>A	ENSP00000387037:p.Tyr486Phe					PDE1A_ENST00000346717.4_Missense_Mutation_p.Y452F|PDE1A_ENST00000331935.6_Missense_Mutation_p.Y486F|PDE1A_ENST00000456212.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000410103.1_Missense_Mutation_p.Y486F|PDE1A_ENST00000409365.1_Missense_Mutation_p.Y470F|PDE1A_ENST00000536095.1_Missense_Mutation_p.Y382F|PDE1A_ENST00000351439.5_Missense_Mutation_p.Y470F|PDE1A_ENST00000358139.2_Missense_Mutation_p.Y486F	p.Y486F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		13	1657	-			486			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1457A>T	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	T	7.795	0.712460	0.15306	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.41;-0.41;-0.42;-0.41;-0.41;-0.41;-0.42	5.66	-1.54	0.08584	.	0.635619	0.16114	N	0.228939	T	0.45438	0.1342	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.23377	0.0;0.001;0.084;0.0;0.072	B;B;B;B;B	0.33960	0.001;0.005;0.112;0.003;0.173	T	0.29912	-0.9996	10	0.22109	T	0.4	.	2.7693	0.05329	0.108:0.1515:0.4113:0.3292	.	382;452;486;470;486	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	F	486;452;382;470;486;470;486;486;486	ENSP00000410309:Y486F;ENSP00000329112:Y452F;ENSP00000439938:Y382F;ENSP00000386767:Y470F;ENSP00000331574:Y486F;ENSP00000309269:Y470F;ENSP00000387037:Y486F;ENSP00000350858:Y486F;ENSP00000408874:Y486F	ENSP00000331574:Y486F	Y	-	2	0	PDE1A	182758971	0.001000	0.12720	0.000000	0.03702	0.085000	0.17905	0.481000	0.22260	-0.080000	0.12685	0.533000	0.62120	TAT		0.458	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			16	108	0	0	0	1	0	16	108				
FLOT1	10211	broad.mit.edu	37	6	30698343	30698343	+	Splice_Site	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CCCCACGCATCTGAGGGTTAA	0.562																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.e11-1		flotillin 1							90.0	98.0	95.0					6																	30698343		2203	4300	6503	SO:0001630	splice_region_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30698343C>G	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.952-1G>C	6.37:g.30698343C>G						FLOT1_ENST00000456573.2_Splice_Site		NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			11	1172	-								B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Splice_Site	SNP	ENST00000376389.3	37		CCDS4688.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256409	0.80246	.	.	ENSG00000137312	ENST00000376389;ENST00000456573	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4709	0.75439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLOT1	30806322	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.016000	0.64041	2.596000	0.87737	0.563000	0.77884	.		0.562	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2		Intron	65	163	0	0	0	1	0	65	163				
SH3D19	152503	broad.mit.edu	37	4	152058967	152058967	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:152058967G>A	ENST00000409252.2	-	14	2280	c.1573C>T	c.(1573-1575)Ctg>Ttg	p.L525L	SH3D19_ENST00000304527.4_Silent_p.L525L|RP11-372K14.2_ENST00000603472.1_RNA|SH3D19_ENST00000455740.1_Silent_p.L502L|SH3D19_ENST00000427414.2_Silent_p.L466L|SH3D19_ENST00000424281.1_Silent_p.L466L|SH3D19_ENST00000514152.1_Silent_p.L502L|SH3D19_ENST00000409598.4_Silent_p.L502L			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	525	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATCTTCTCCAGAAGATAAACA	0.358																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(1504-1506)Ctg>Ttg		SH3 domain containing 19							74.0	72.0	72.0					4																	152058967		2203	4300	6503	SO:0001819	synonymous_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152058967G>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1573C>T	4.37:g.152058967G>A						SH3D19_ENST00000455740.1_Silent_p.L502L|SH3D19_ENST00000424281.1_Silent_p.L466L|SH3D19_ENST00000427414.2_Silent_p.L466L|SH3D19_ENST00000304527.4_Silent_p.L525L|SH3D19_ENST00000514152.1_Silent_p.L502L|SH3D19_ENST00000409252.2_Silent_p.L525L	p.L502L			Q5HYK7	SH319_HUMAN			14	2671	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	525			SH3 2.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	ENST00000409252.2	37	c.1504C>T	CCDS34077.2																																																																																				0.358	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		34	31	0	0	0	1	0	34	31				
SGCG	6445	broad.mit.edu	37	13	23777923	23777923	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:23777923C>T	ENST00000218867.3	+	2	214	c.90C>T	c.(88-90)ggC>ggT	p.G30G	SGCG_ENST00000537476.1_Silent_p.G30G|SGCG_ENST00000545013.1_Silent_p.G30G	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	30					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCATTTATGGCTGGAGAAAGC	0.428																																						ENST00000218867.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(88-90)ggC>ggT		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							217.0	182.0	194.0					13																	23777923		2203	4300	6503	SO:0001819	synonymous_variant	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23777923C>T	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.90C>T	13.37:g.23777923C>T						SGCG_ENST00000545013.1_Silent_p.G30G|SGCG_ENST00000537476.1_Silent_p.G30G	p.G30G	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	2	214	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	30					Q32M32|Q5T9J6	Silent	SNP	ENST00000218867.3	37	c.90C>T	CCDS9299.1																																																																																				0.428	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		13	27	0	0	0	1	0	13	27				
ZNF699	374879	broad.mit.edu	37	19	9406610	9406610	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:9406610G>A	ENST00000591998.1	-	6	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Silent_p.L490L			Q32M78	ZN699_HUMAN	zinc finger protein 699	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGTTCGGTGAGGGATGAGG	0.448																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1468-1470)ctC>ctT		zinc finger protein 699							80.0	85.0	83.0					19																	9406610		2201	4298	6499	SO:0001819	synonymous_variant	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9406610G>A	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1470C>T	19.37:g.9406610G>A						ZNF699_ENST00000308650.3_Silent_p.L490L	p.L490L			Q32M78	ZN699_HUMAN			6	1698	-			490					Q8N9A1	Silent	SNP	ENST00000591998.1	37	c.1470C>T	CCDS42495.1																																																																																				0.448	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		35	44	0	0	0	1	0	35	44				
CDH10	1008	broad.mit.edu	37	5	24487861	24487861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:24487861G>A	ENST00000264463.4	-	12	2785	c.2278C>T	c.(2278-2280)Caa>Taa	p.Q760*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	760					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCGTAGTTTTGGTCTCCTTCA	0.448										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2278-2280)Caa>Taa		cadherin 10, type 2 (T2-cadherin)							161.0	160.0	160.0					5																	24487861		2203	4300	6503	SO:0001587	stop_gained	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487861G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2278C>T	5.37:g.24487861G>A	ENSP00000264463:p.Gln760*	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.Q760*	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2785	-			760					Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	c.2278C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	44	10.596166	0.99434	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.81	5.81	0.92471	.	0.103315	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.0503	0.93041	0.0:0.0:1.0:0.0	.	.	.	.	X	760	.	ENSP00000264463:Q760X	Q	-	1	0	CDH10	24523618	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.718000	0.98758	2.750000	0.94351	0.655000	0.94253	CAA		0.448	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		97	138	0	0	0	1	0	97	138				
ZNF800	168850	broad.mit.edu	37	7	127015049	127015049	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:127015049T>A	ENST00000393313.1	-	5	932	c.341A>T	c.(340-342)aAt>aTt	p.N114I	ZNF800_ENST00000393312.1_Missense_Mutation_p.N114I|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.N114I			Q2TB10	ZN800_HUMAN	zinc finger protein 800	114					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TAGGAGATCATTTATGGCTTG	0.323																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(340-342)aAt>aTt		zinc finger protein 800							100.0	102.0	102.0					7																	127015049		2202	4300	6502	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127015049T>A	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.341A>T	7.37:g.127015049T>A	ENSP00000376989:p.Asn114Ile					ZNF800_ENST00000393312.1_Missense_Mutation_p.N114I|ZNF800_ENST00000265827.3_Missense_Mutation_p.N114I	p.N114I			Q2TB10	ZN800_HUMAN			5	932	-			114					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.341A>T	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	T	8.750	0.921056	0.17982	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992	T;T;T;T;T	0.44881	2.51;2.51;2.51;0.91;0.92	5.68	-4.9	0.03094	.	0.337163	0.38548	N	0.001659	T	0.24084	0.0583	N	0.14661	0.345	0.25573	N	0.986873	B;B	0.19583	0.036;0.037	B;B	0.23018	0.043;0.013	T	0.02184	-1.1199	9	0.37606	T	0.19	0.1173	16.9751	0.86311	0.0:0.6507:0.0:0.3493	.	17;114	B7Z4V7;Q2TB10	.;ZN800_HUMAN	I	114	ENSP00000376989:N114I;ENSP00000265827:N114I;ENSP00000376988:N114I;ENSP00000403945:N114I;ENSP00000401109:N114I	ENSP00000265827:N114I	N	-	2	0	ZNF800	126802285	0.003000	0.15002	0.374000	0.26016	0.999000	0.98932	-0.230000	0.09083	-0.899000	0.03901	0.528000	0.53228	AAT		0.323	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		4	75	0	0	0	1	0	4	75				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	144	0	0	0	1	0	5	144				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	30	0	0	0	1	0	3	30				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	105	0	0	0	1	0	4	105				
LAMA5	3911	broad.mit.edu	37	20	60891826	60891826	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:60891826C>A	ENST00000252999.3	-	57	7723	c.7657G>T	c.(7657-7659)Gtg>Ttg	p.V2553L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2553	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGCCGCACCACCGTCTGTGGA	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(7657-7659)Gtg>Ttg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						20.0	16.0	17.0					20																	60891826		2170	4272	6442	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60891826C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7657G>T	20.37:g.60891826C>A	ENSP00000252999:p.Val2553Leu						p.V2553L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		57	7723	-	Breast(26;1.57e-08)		2553			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7657G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	12.69	2.015071	0.35511	.	.	ENSG00000130702	ENST00000252999	T	0.20463	2.07	3.79	3.79	0.43588	.	0.399306	0.24823	U	0.035304	T	0.21387	0.0515	M	0.72118	2.19	0.80722	D	1	P	0.36027	0.533	B	0.28916	0.096	T	0.06570	-1.0819	10	0.46703	T	0.11	.	11.0056	0.47633	0.0:1.0:0.0:0.0	.	2553	O15230	LAMA5_HUMAN	L	2553	ENSP00000252999:V2553L	ENSP00000252999:V2553L	V	-	1	0	LAMA5	60325221	0.964000	0.33143	0.803000	0.32268	0.220000	0.24768	3.682000	0.54656	1.943000	0.56356	0.306000	0.20318	GTG		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		13	24	1	0	0.00010058	1	0.000104544	13	24				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	411	0	0	0	1	0	5	411				
VWA2	340706	broad.mit.edu	37	10	116049006	116049006	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:116049006G>T	ENST00000392982.3	+	12	2130	c.1880G>T	c.(1879-1881)gGt>gTt	p.G627V	VWA2_ENST00000603594.1_Missense_Mutation_p.G627V			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	627	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTCCAGAGGGGTGCCCGGCCT	0.642																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1879-1881)gGt>gTt		von Willebrand factor A domain containing 2							53.0	47.0	49.0					10																	116049006		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116049006G>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1880G>T	10.37:g.116049006G>T	ENSP00000376708:p.Gly627Val					VWA2_ENST00000392982.3_Missense_Mutation_p.G627V	p.G627V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	12	2201	+			627			VWFA 3.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1880G>T		.	.	.	.	.	.	.	.	.	.	G	19.97	3.925270	0.73213	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.82619	-1.63	5.1	5.1	0.69264	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.94964	0.8111	10	0.87932	D	0	.	16.3167	0.82931	0.0:0.0:1.0:0.0	.	323;627;627	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	V	627	ENSP00000376708:G627V	ENSP00000298715:G627V	G	+	2	0	VWA2	116038996	1.000000	0.71417	0.593000	0.28771	0.526000	0.34562	9.763000	0.98947	2.357000	0.79964	0.655000	0.94253	GGT		0.642	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		4	34	1	0	0.00024832	1	0.000256841	4	34				
ZNF280D	54816	broad.mit.edu	37	15	56924166	56924166	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr15:56924166T>C	ENST00000267807.7	-	22	2686	c.2470A>G	c.(2470-2472)Atc>Gtc	p.I824V	ZNF280D_ENST00000559237.1_Missense_Mutation_p.I811V|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	824					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CAACTGACGATGTTTTTTGAG	0.363																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(2431-2433)Atc>Gtc		zinc finger protein 280D							177.0	173.0	174.0					15																	56924166		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56924166T>C	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2470A>G	15.37:g.56924166T>C	ENSP00000267807:p.Ile824Val					ZNF280D_ENST00000267807.7_Missense_Mutation_p.I824V	p.I811V	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	21	3114	-			824					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.2431A>G	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	T	0.893	-0.724878	0.03158	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.03035	4.07	5.78	-5.37	0.02681	.	3.645990	0.01183	N	0.007130	T	0.01695	0.0054	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	10	0.02654	T	1	0.7302	2.3396	0.04256	0.2429:0.3604:0.0849:0.3118	.	824	Q6N043	Z280D_HUMAN	V	824;811	ENSP00000267807:I824V	ENSP00000267807:I824V	I	-	1	0	ZNF280D	54711458	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.138000	0.10374	-0.723000	0.04915	0.460000	0.39030	ATC		0.363	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		63	16	0	0	0	1	0	63	16				
CCDC7	79741	broad.mit.edu	37	10	32740519	32740519	+	Splice_Site	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:32740519G>A	ENST00000362006.5	+	2	492		c.e2-1		CCDC7_ENST00000539197.1_5'Flank|CCDC7_ENST00000545067.1_Splice_Site|CCDC7_ENST00000535327.1_5'Flank|CCDC7_ENST00000537047.1_5'Flank|CCDC7_ENST00000277657.6_Splice_Site	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTTTTTCACAGGGAGGAATAA	0.348																																						ENST00000545067.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.e2-1		coiled-coil domain containing 7							32.0	32.0	32.0					10																	32740519		876	1991	2867	SO:0001630	splice_region_variant	221016							g.chr10:32740519G>A	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.-51-1G>A	10.37:g.32740519G>A						CCDC7_ENST00000362006.5_Splice_Site|CCDC7_ENST00000277657.6_Splice_Site				Q96M83	CCDC7_HUMAN			2	245	+		Breast(68;0.000207)|Prostate(175;0.0107)						Q5VW55|Q8IVQ0|Q8NEQ0	Splice_Site	SNP	ENST00000362006.5	37		CCDS7173.1																																																																																				0.348	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023	Intron	16	1	0	0	0	1	0	16	1				
PLCH1	23007	broad.mit.edu	37	3	155267708	155267708	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:155267708G>A	ENST00000340059.7	-	9	1193	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	PLCH1_ENST00000414191.1_Silent_p.I380I|PLCH1_ENST00000494598.1_Silent_p.I398I|PLCH1_ENST00000460012.1_Silent_p.I380I|PLCH1_ENST00000447496.2_Silent_p.I398I|PLCH1_ENST00000334686.6_Silent_p.I380I	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	398	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCTGCTGGATACTGCAGT	0.478																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1138-1140)atC>atT		phospholipase C, eta 1							99.0	93.0	95.0					3																	155267708		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155267708G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1194C>T	3.37:g.155267708G>A						PLCH1_ENST00000447496.2_Silent_p.I398I|PLCH1_ENST00000414191.1_Silent_p.I380I|PLCH1_ENST00000340059.7_Silent_p.I398I|PLCH1_ENST00000334686.6_Silent_p.I380I|PLCH1_ENST00000494598.1_Silent_p.I398I	p.I380I			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		10	1497	-			398			PI-PLC X-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.1140C>T	CCDS46939.1																																																																																				0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		16	95	0	0	0	1	0	16	95				
UBE2T	29089	broad.mit.edu	37	1	202301067	202301067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:202301067C>T	ENST00000367274.4	-	7	639	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	164					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						GGTAGATTATCAAGCATCTCT	0.423																																						ENST00000367274.4																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(490-492)Gat>Aat		ubiquitin-conjugating enzyme E2T (putative)							167.0	149.0	155.0					1																	202301067		2203	4300	6503	SO:0001583	missense	29089				DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr1:202301067C>T	AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.490G>A	1.37:g.202301067C>T	ENSP00000356243:p.Asp164Asn						p.D164N	NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN			7	639	-			164					Q2TU36	Missense_Mutation	SNP	ENST00000367274.4	37	c.490G>A	CCDS1425.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819707	0.50633	.	.	ENSG00000077152	ENST00000367274	T	0.52754	0.65	5.31	0.199	0.15175	Ubiquitin-conjugating enzyme/RWD-like (1);	1.220500	0.05747	N	0.602484	T	0.29423	0.0733	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24764	-1.0151	10	0.54805	T	0.06	0.7724	4.679	0.12725	0.0:0.4479:0.2982:0.254	.	164	Q9NPD8	UBE2T_HUMAN	N	164	ENSP00000356243:D164N	ENSP00000356243:D164N	D	-	1	0	UBE2T	200567690	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	0.458000	0.21892	-0.095000	0.12351	0.591000	0.81541	GAT		0.423	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099163.1	NM_014176		37	104	0	0	0	1	0	37	104				
LGR4	55366	broad.mit.edu	37	11	27406875	27406875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:27406875G>A	ENST00000379214.4	-	5	985	c.542C>T	c.(541-543)gCg>gTg	p.A181V	LGR4_ENST00000480977.2_Missense_Mutation_p.A133V|LGR4_ENST00000389858.4_Missense_Mutation_p.A157V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	181					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGGGTCAGCGCCTGTAGGGT	0.498																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(541-543)gCg>gTg		leucine-rich repeat containing G protein-coupled receptor 4							115.0	116.0	115.0					11																	27406875		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27406875G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.542C>T	11.37:g.27406875G>A	ENSP00000368516:p.Ala181Val					LGR4_ENST00000480977.2_Missense_Mutation_p.A133V|LGR4_ENST00000389858.4_Missense_Mutation_p.A157V	p.A181V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			5	985	-			181					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.542C>T	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580151	0.96565	.	.	ENSG00000205213	ENST00000379214;ENST00000389858;ENST00000480977	T;T;D	0.82803	3.71;3.1;-1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	N	0.02973	-0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.86593	0.1861	10	0.52906	T	0.07	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	157;181	G5E9B3;Q9BXB1	.;LGR4_HUMAN	V	181;157;133	ENSP00000368516:A181V;ENSP00000374508:A157V;ENSP00000431650:A133V	ENSP00000368516:A181V	A	-	2	0	LGR4	27363451	1.000000	0.71417	0.974000	0.42286	0.843000	0.47879	9.869000	0.99810	2.812000	0.96745	0.557000	0.71058	GCG		0.498	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		113	21	0	0	0	1	0	113	21				
CFAP45	25790	broad.mit.edu	37	1	159858170	159858170	+	Missense_Mutation	SNP	G	G	T	rs145313899		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr1:159858170G>T	ENST00000368099.4	-	4	453	c.389C>A	c.(388-390)gCc>gAc	p.A130D	CCDC19_ENST00000426543.2_Missense_Mutation_p.A45D|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CTTCTTGAAGGCCTGGTCCCT	0.537																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(133-135)gCc>gAc		coiled-coil domain containing 19							91.0	84.0	86.0					1																	159858170		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159858170G>T																												ENST00000368099.4:c.389C>A	1.37:g.159858170G>T	ENSP00000357079:p.Ala130Asp					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.A130D	p.A45D			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		4	589	-	all_hematologic(112;0.0597)		130						Missense_Mutation	SNP	ENST00000368099.4	37	c.134C>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098625	0.56183	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.48522	0.83;0.81	5.17	4.26	0.50523	.	0.241874	0.40640	N	0.001058	T	0.44891	0.1315	M	0.67953	2.075	0.48696	D	0.999694	D;D	0.63880	0.993;0.986	P;P	0.53954	0.738;0.738	T	0.45833	-0.9234	9	.	.	.	-10.9405	11.144	0.48419	0.0897:0.0:0.9103:0.0	.	130;130	A8K884;Q9UL16	.;CCD19_HUMAN	D	130;45	ENSP00000357079:A130D;ENSP00000403044:A45D	.	A	-	2	0	CCDC19	158124794	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.209000	0.58493	1.170000	0.42753	0.655000	0.94253	GCC		0.537	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			23	84	1	0	1.42536e-11	1	1.56641e-11	23	84				
CDH12	1010	broad.mit.edu	37	5	21755799	21755799	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:21755799C>A	ENST00000382254.1	-	14	2872	c.1786G>T	c.(1786-1788)Ggc>Tgc	p.G596C	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G596C|CDH12_ENST00000522262.1_Missense_Mutation_p.G556C|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	596	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGATGGTGCCATCAGAGTCA	0.433										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1786-1788)Ggc>Tgc		cadherin 12, type 2 (N-cadherin 2)							177.0	146.0	157.0					5																	21755799		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755799C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1786G>T	5.37:g.21755799C>A	ENSP00000371689:p.Gly596Cys	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.G556C|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G596C	p.G596C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			14	2872	-			596			Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1786G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719936	0.89205	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60040	0.24;0.24;0.22	5.56	5.56	0.83823	Cadherin (2);	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87293	0.2300	10	0.87932	D	0	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	556;596	B7Z2U6;P55289	.;CAD12_HUMAN	C	596;596;556	ENSP00000423577:G596C;ENSP00000371689:G596C;ENSP00000428786:G556C	ENSP00000371689:G596C	G	-	1	0	CDH12	21791556	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.767000	0.68850	2.619000	0.88677	0.460000	0.39030	GGC		0.433	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		49	58	1	0	2.64514e-33	1	3.22615e-33	49	58				
CALB1	793	broad.mit.edu	37	8	91081457	91081457	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:91081457G>T	ENST00000265431.3	-	4	421	c.240C>A	c.(238-240)caC>caA	p.H80Q	CALB1_ENST00000518457.1_Missense_Mutation_p.H23Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	80	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGGGTAATACGTGAGCCAACT	0.428																																					Melanoma(46;573 1182 27367 39727 48386)	ENST00000265431.3																			0				breast(1)|kidney(1)|lung(8)|pancreas(1)	11						c.(238-240)caC>caA		calbindin 1, 28kDa							50.0	51.0	51.0					8																	91081457		2203	4300	6503	SO:0001583	missense	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91081457G>T		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.240C>A	8.37:g.91081457G>T	ENSP00000265431:p.His80Gln					CALB1_ENST00000518457.1_Missense_Mutation_p.H23Q	p.H80Q	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		4	421	-			80			EF-hand 2.		B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	c.240C>A	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	G	0.761	-0.769307	0.02974	.	.	ENSG00000104327	ENST00000265431;ENST00000518457;ENST00000523716;ENST00000520613	T;D;T;T	0.88975	-0.22;-2.45;1.03;3.03	5.81	-9.49	0.00587	EF-hand-like domain (1);	0.058760	0.64402	D	0.000002	T	0.54854	0.1884	N	0.00308	-1.67	0.22918	N	0.998562	B	0.02656	0.0	B	0.01281	0.0	T	0.59408	-0.7460	10	0.02654	T	1	-19.2112	15.7326	0.77817	0.2051:0.1512:0.6437:0.0	.	80	P05937	CALB1_HUMAN	Q	80;23;23;23	ENSP00000265431:H80Q;ENSP00000429602:H23Q;ENSP00000429246:H23Q;ENSP00000430281:H23Q	ENSP00000265431:H80Q	H	-	3	2	CALB1	91150633	0.034000	0.19679	0.045000	0.18777	0.768000	0.43524	-0.421000	0.07053	-1.756000	0.01318	-0.768000	0.03414	CAC		0.428	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		36	38	1	0	1.04594e-18	1	1.22607e-18	36	38				
C3P1	388503	broad.mit.edu	37	19	10163264	10163264	+	RNA	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:10163264G>A	ENST00000495140.1	+	0	1523							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ACCCGACACGGAGGCGGAAGT	0.562																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13															93.0	94.0	93.0					19																	10163264		1993	4158	6151			388503							g.chr19:10163264G>A	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10163264G>A														0	1523	+									RNA	SNP	ENST00000495140.1	37																																																																																						0.562	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		41	71	0	0	0	1	0	41	71				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																729171							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	75	1	0	1.23904e-05	1	1.30068e-05	4	75				
LLfos-48D6.1	0	broad.mit.edu	37	19	2353008	2353008	+	RNA	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:2353008C>G	ENST00000609490.1	-	0	450				SPPL2B_ENST00000452401.2_RNA																							CCCAAAGACTCTGCCACGCCA	0.657																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							20.0	28.0	25.0					19																	2353008		2058	4191	6249			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2353008C>G																													19.37:g.2353008C>G						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1720	+		Hepatocellular(1079;0.137)							RNA	SNP	ENST00000609490.1	37																																																																																						0.657	LLfos-48D6.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000473157.1			12	34	0	0	0	1	0	12	34				
SCN1B	6324	broad.mit.edu	37	19	35524463	35524463	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35524463G>A	ENST00000262631.5	+	3	405	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	SCN1B_ENST00000596348.1_3'UTR|CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000415950.3_Missense_Mutation_p.V90M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	90	Ig-like C2-type.				axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAGGGCCGCGTGGTGTGGAA	0.597																																						ENST00000262631.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(268-270)Gtg>Atg		sodium channel, voltage-gated, type I, beta subunit							175.0	155.0	162.0					19																	35524463		2203	4300	6503	SO:0001583	missense	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35524463G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.268G>A	19.37:g.35524463G>A	ENSP00000262631:p.Val90Met					SCN1B_ENST00000415950.3_Missense_Mutation_p.V90M|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_3'UTR	p.V90M	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	405	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		90			Ig-like C2-type.		Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.268G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274197	0.59649	.	.	ENSG00000105711	ENST00000262631;ENST00000415950	D;D	0.95171	-3.63;-3.63	4.54	4.54	0.55810	Immunoglobulin (1);Immunoglobulin-like fold (1);	0.283914	0.31936	N	0.006824	D	0.95664	0.8590	L	0.49778	1.585	0.35567	D	0.805168	D;D	0.89917	0.997;1.0	P;D	0.74348	0.716;0.983	D	0.97746	1.0211	10	0.87932	D	0	-30.8986	12.6527	0.56770	0.0:0.0:1.0:0.0	.	90;90	Q07699;Q07699-2	SCN1B_HUMAN;.	M	90	ENSP00000262631:V90M;ENSP00000396915:V90M	ENSP00000262631:V90M	V	+	1	0	SCN1B	40216303	0.365000	0.25006	0.970000	0.41538	0.940000	0.58332	0.767000	0.26575	2.351000	0.79841	0.484000	0.47621	GTG		0.597	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			149	133	0	0	0	1	0	149	133				
MEGF8	1954	broad.mit.edu	37	19	42853779	42853779	+	Silent	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:42853779C>G	ENST00000251268.6	+	14	2427	c.2427C>G	c.(2425-2427)ctC>ctG	p.L809L	MEGF8_ENST00000334370.4_Silent_p.L742L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	809					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGGCCAGCTCAATGGCTCGG	0.652																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2224-2226)ctC>ctG		multiple EGF-like-domains 8							61.0	63.0	62.0					19																	42853779		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42853779C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2427C>G	19.37:g.42853779C>G						MEGF8_ENST00000251268.6_Silent_p.L809L	p.L742L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			13	2861	+		Prostate(69;0.00682)	809					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2226C>G																																																																																					0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		21	79	0	0	0	1	0	21	79				
ABCA6	23460	broad.mit.edu	37	17	67081264	67081264	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:67081264G>T	ENST00000284425.2	-	32	4263	c.4089C>A	c.(4087-4089)aaC>aaA	p.N1363K	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1363	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCCACAGCACGTTCTCTTGAG	0.537																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4087-4089)aaC>aaA		ATP-binding cassette, sub-family A (ABC1), member 6							50.0	39.0	43.0					17																	67081264		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081264G>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4089C>A	17.37:g.67081264G>T	ENSP00000284425:p.Asn1363Lys					ABCA6_ENST00000446604.2_5'UTR	p.N1363K	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			32	4263	-	Breast(10;5.65e-12)		1363			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4089C>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071163	0.55646	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	T	0.13657	2.57	4.76	-3.47	0.04753	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.233607	0.29987	N	0.010700	T	0.28200	0.0696	M	0.81682	2.555	0.80722	D	1	D	0.63046	0.992	D	0.66602	0.945	T	0.06807	-1.0806	10	0.87932	D	0	.	6.7798	0.23640	0.5257:0.1278:0.3465:0.0	.	1363	Q8N139	ABCA6_HUMAN	K	1363;223	ENSP00000284425:N1363K	ENSP00000284425:N1363K	N	-	3	2	ABCA6	64592859	0.997000	0.39634	0.566000	0.28421	0.702000	0.40608	1.038000	0.30254	-0.712000	0.04988	-0.781000	0.03364	AAC		0.537	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		5	22	1	0	5.9392e-07	1	6.32915e-07	5	22				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	5	0	0	0	1	0	3	5				
CNTNAP4	85445	broad.mit.edu	37	16	76501402	76501402	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:76501402C>G	ENST00000476707.1	+	9	1785	c.1646C>G	c.(1645-1647)tCa>tGa	p.S549*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Nonsense_Mutation_p.S545*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.S497*|SNORD33_ENST00000516213.1_RNA|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.S473*			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	546	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGATAGACTCATGTGGCATC	0.413																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(1633-1635)tCa>tGa		contactin associated protein-like 4							95.0	92.0	93.0					16																	76501402		2198	4300	6498	SO:0001587	stop_gained	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76501402C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1646C>G	16.37:g.76501402C>G	ENSP00000417628:p.Ser549*					CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.S497*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.S473*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.S549*|CNTNAP4_ENST00000469589.1_3'UTR	p.S545*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			11	2019	+			546			Laminin G-like 2.		E9PFZ6|Q86YZ7	Nonsense_Mutation	SNP	ENST00000476707.1	37	c.1634C>G		.	.	.	.	.	.	.	.	.	.	C	37	6.169750	0.97343	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	.	.	.	5.18	4.16	0.48862	.	0.257437	0.20624	N	0.088717	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	4.5137	0.11924	0.0:0.7215:0.0:0.2785	.	.	.	.	X	545;497;473;549	.	ENSP00000306893:S545X	S	+	2	0	CNTNAP4	75058903	1.000000	0.71417	0.918000	0.36340	0.948000	0.59901	4.461000	0.60115	2.704000	0.92352	0.650000	0.86243	TCA		0.413	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		18	76	0	0	0	1	0	18	76				
ELF1	1997	broad.mit.edu	37	13	41533025	41533025	+	Missense_Mutation	SNP	T	T	C	rs368030828		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr13:41533025T>C	ENST00000239882.3	-	3	514	c.200A>G	c.(199-201)gAt>gGt	p.D67G	ELF1_ENST00000442101.1_Missense_Mutation_p.D67G|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	67					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTCAGCAACATCCAGTGAACT	0.458																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(199-201)gAt>gGt		E74-like factor 1 (ets domain transcription factor)		T	GLY/ASP,GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	255.0	181.0	206.0		200,200	5.7	1.0	13		206	0,8600		0,0,4300	no	missense,missense	ELF1	NM_001145353.1,NM_172373.3	94,94	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	67/596,67/620	41533025	1,13005	2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41533025T>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.200A>G	13.37:g.41533025T>C	ENSP00000239882:p.Asp67Gly					ELF1_ENST00000442101.1_Missense_Mutation_p.D67G|ELF1_ENST00000498824.1_5'UTR	p.D67G	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	3	514	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	67					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.200A>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461385	0.43736	2.27E-4	0.0	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.48201	0.82;0.82	5.72	5.72	0.89469	.	0.063064	0.64402	D	0.000010	T	0.57330	0.2046	L	0.47716	1.5	0.49051	D	0.999744	D;D	0.56287	0.969;0.975	P;P	0.60949	0.843;0.881	T	0.51012	-0.8759	10	0.21014	T	0.42	.	15.1968	0.73096	0.0:0.0:0.0:1.0	.	67;67	E9PDQ9;P32519	.;ELF1_HUMAN	G	67	ENSP00000405580:D67G;ENSP00000239882:D67G	ENSP00000239882:D67G	D	-	2	0	ELF1	40431025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.635000	0.67841	2.189000	0.69895	0.533000	0.62120	GAT		0.458	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		46	114	0	0	0	1	0	46	114				
CNTNAP5	129684	broad.mit.edu	37	2	125547598	125547598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:125547598C>T	ENST00000431078.1	+	18	3233	c.2869C>T	c.(2869-2871)Ccc>Tcc	p.P957S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	957	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.			PGHCSS -> SIKKLK (in Ref. 4; BAB71205). {ECO:0000305}.	cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCAGGCTGCCCCGGCCACTG	0.542																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2869-2871)Ccc>Tcc		contactin associated protein-like 5							51.0	58.0	56.0					2																	125547598		2129	4238	6367	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547598C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2869C>T	2.37:g.125547598C>T	ENSP00000399013:p.Pro957Ser						p.P957S	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3233	+			957	PGHCSS -> SIKKLK (in Ref. 4; BAB71205).		EGF-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2869C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356094	0.41700	.	.	ENSG00000155052	ENST00000431078	T	0.75367	-0.93	5.24	5.24	0.73138	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.50627	D	0.000110	T	0.64616	0.2614	L	0.40543	1.245	0.80722	D	1	B	0.28026	0.198	B	0.23574	0.047	T	0.61377	-0.7075	10	0.07990	T	0.79	.	18.1624	0.89712	0.0:1.0:0.0:0.0	.	957	Q8WYK1	CNTP5_HUMAN	S	957	ENSP00000399013:P957S	ENSP00000399013:P957S	P	+	1	0	CNTNAP5	125264068	1.000000	0.71417	0.994000	0.49952	0.688000	0.40055	5.801000	0.69115	2.619000	0.88677	0.655000	0.94253	CCC		0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			18	63	0	0	0	1	0	18	63				
C5orf42	65250	broad.mit.edu	37	5	37169105	37169105	+	Silent	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr5:37169105G>A	ENST00000508244.1	-	33	7114	c.7021C>T	c.(7021-7023)Cta>Tta	p.L2341L	C5orf42_ENST00000425232.2_Silent_p.L2341L|C5orf42_ENST00000274258.7_Silent_p.L1221L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2341						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACATCAAATAGTTTTTCTGGT	0.373																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3661-3663)Cta>Tta		chromosome 5 open reading frame 42							139.0	143.0	142.0					5																	37169105		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37169105G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7021C>T	5.37:g.37169105G>A						C5orf42_ENST00000425232.2_Silent_p.L2341L|C5orf42_ENST00000508244.1_Silent_p.L2341L	p.L1221L			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7248	-	all_lung(31;0.000616)		2341					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.3661C>T	CCDS34146.2																																																																																				0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		79	92	0	0	0	1	0	79	92				
ZNF626	199777	broad.mit.edu	37	19	20828521	20828521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:20828521C>T	ENST00000601440.1	-	3	341	c.195G>A	c.(193-195)atG>atA	p.M65I	ZNF626_ENST00000291750.6_Missense_Mutation_p.M65I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		M -> T (in dbSNP:rs8106117).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CATTTCTCTTCATGGTCAAAG	0.388																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(193-195)atG>atA		zinc finger protein 626							115.0	107.0	110.0					19																	20828521		2203	4300	6503	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20828521C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.195G>A	19.37:g.20828521C>T	ENSP00000469958:p.Met65Ile					ZNF626_ENST00000291750.6_Missense_Mutation_p.M65I|CTC-513N18.7_ENST00000595094.1_lincRNA	p.M65I	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			3	341	-			65		M -> T (in dbSNP:rs8106117).	KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.195G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	1.892	-0.455178	0.04540	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.00808	5.67	0.171	0.171	0.15026	Krueppel-associated box (1);	.	.	.	.	T	0.00695	0.0023	N	0.13352	0.335	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.18871	0.007;0.023	T	0.46076	-0.9217	8	0.29301	T	0.29	.	.	.	.	.	65;65	Q96QM1;Q68DY1	.;ZN626_HUMAN	I	65	ENSP00000291750:M65I	ENSP00000291750:M65I	M	-	3	0	ZNF626	20620361	0.001000	0.12720	0.013000	0.15412	0.013000	0.08279	-1.054000	0.03496	0.276000	0.22118	0.281000	0.19383	ATG		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		19	91	0	0	0	1	0	19	91				
ZNF30	90075	broad.mit.edu	37	19	35434432	35434432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:35434432G>A	ENST00000601142.1	+	5	799	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G107S|ZNF30_ENST00000439785.1_Missense_Mutation_p.G189S|ZNF30_ENST00000303586.7_Missense_Mutation_p.G189S			P17039	ZNF30_HUMAN	zinc finger protein 30	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CTTTATCAGTGGCTCAGCCTT	0.398																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(565-567)Ggc>Agc		zinc finger protein 30							40.0	43.0	42.0					19																	35434432		2029	4211	6240	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434432G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.562G>A	19.37:g.35434432G>A	ENSP00000469954:p.Gly188Ser					ZNF30_ENST00000303586.7_Missense_Mutation_p.G189S|ZNF30_ENST00000601142.1_Missense_Mutation_p.G188S|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.G107S	p.G189S	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1009	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		188					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.565G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.819162	0.00595	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.13420	2.59;2.59	2.32	-4.65	0.03339	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02455	0.0075	N	0.01197	-0.965	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.28170	-1.0052	9	0.02654	T	1	.	0.9551	0.01384	0.3631:0.3012:0.1841:0.1516	.	189;188	P17039-2;P17039	.;ZNF30_HUMAN	S	189;188;107	ENSP00000403441:G189S;ENSP00000416457:G107S	ENSP00000303889:G188S	G	+	1	0	ZNF30	40126272	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.331000	0.19733	-1.925000	0.01063	-1.353000	0.01230	GGC		0.398	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		7	32	0	0	0	1	0	7	32				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					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.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	32	0	0	0	1	0	3	32				
MICAL2	9645	broad.mit.edu	37	11	12247785	12247785	+	Nonsense_Mutation	SNP	C	C	T	rs574255304	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:12247785C>T	ENST00000256194.4	+	14	2044	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	MICAL2_ENST00000537344.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000527546.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.R586*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.R586*	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	586	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGTGGCCGAGCGAGAGTTTGG	0.493																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1756-1758)Cga>Tga		microtubule associated monooxygenase, calponin and LIM domain containing 2							137.0	129.0	132.0					11																	12247785		2201	4294	6495	SO:0001587	stop_gained	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12247785C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1756C>T	11.37:g.12247785C>T	ENSP00000256194:p.Arg586*					MICAL2_ENST00000527546.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000537344.1_Nonsense_Mutation_p.R586*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.R586*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.R586*	p.R586*	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	14	2044	+			586			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Nonsense_Mutation	SNP	ENST00000256194.4	37	c.1756C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	39	7.605645	0.98387	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	.	.	.	5.28	3.31	0.37934	.	0.071863	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4955	0.27487	0.2923:0.6302:0.0:0.0775	.	.	.	.	X	586;119;586;586;586;586	.	ENSP00000256194:R586X	R	+	1	2	MICAL2	12204361	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	3.109000	0.50345	2.466000	0.83321	0.563000	0.77884	CGA		0.493	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		13	82	0	0	0	1	0	13	82				
MUT	4594	broad.mit.edu	37	6	49408029	49408029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:49408029G>A	ENST00000274813.3	-	11	1973	c.1846C>T	c.(1846-1848)Cgt>Tgt	p.R616C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	616	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.		R -> C (in MMAM; mut0). {ECO:0000269|PubMed:15781192, ECO:0000269|PubMed:16281286}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAGAAGACGAGGTCTGCGA	0.378																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CM050688	MUT	M		c.(1846-1848)Cgt>Tgt		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						139.0	123.0	129.0					6																	49408029		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49408029G>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1846C>T	6.37:g.49408029G>A	ENSP00000274813:p.Arg616Cys						p.R616C	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			11	1973	-	Lung NSC(77;0.0376)		616		R -> C (in MMAM; mut0).	B12-binding.		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1846C>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919614	0.92249	.	.	ENSG00000146085	ENST00000274813;ENST00000540138	D	0.96300	-3.97	5.68	5.68	0.88126	Cobalamin (vitamin B12)-binding (4);Methylmalonyl-CoA mutase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99158	0.9709	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	-12.6747	18.7723	0.91898	0.0:0.0:1.0:0.0	.	616	P22033	MUTA_HUMAN	C	616;63	ENSP00000274813:R616C	ENSP00000274813:R616C	R	-	1	0	MUT	49515988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.676000	0.91093	0.591000	0.81541	CGT		0.378	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			29	68	0	0	0	1	0	29	68				
RELN	5649	broad.mit.edu	37	7	103243886	103243886	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:103243886C>T	ENST00000428762.1	-	24	3357	c.3198G>A	c.(3196-3198)ccG>ccA	p.P1066P	RELN_ENST00000343529.5_Silent_p.P1066P|RELN_ENST00000424685.2_Silent_p.P1066P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1066					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAATTGTGGACGGAAGGGCAG	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3196-3198)ccG>ccA		reelin							97.0	94.0	95.0					7																	103243886		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243886C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3198G>A	7.37:g.103243886C>T						RELN_ENST00000343529.5_Silent_p.P1066P|RELN_ENST00000424685.2_Silent_p.P1066P	p.P1066P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3357	-			1066					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3198G>A	CCDS47680.1																																																																																				0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		47	50	0	0	0	1	0	47	50				
COL14A1	7373	broad.mit.edu	37	8	121170426	121170426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:121170426C>T	ENST00000297848.3	+	3	416	c.146C>T	c.(145-147)tCa>tTa	p.S49L	COL14A1_ENST00000247781.3_Missense_Mutation_p.S49L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S49L|COL14A1_ENST00000537875.1_Missense_Mutation_p.S49L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATACAGATTTCATGGAAGGCT	0.348																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(145-147)tCa>tTa		collagen, type XIV, alpha 1							73.0	72.0	72.0					8																	121170426		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121170426C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.146C>T	8.37:g.121170426C>T	ENSP00000297848:p.Ser49Leu					COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.S49L|COL14A1_ENST00000247781.3_Missense_Mutation_p.S49L|COL14A1_ENST00000537875.1_Missense_Mutation_p.S49L	p.S49L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		3	416	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		49			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.146C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134458	0.77662	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.38	4.47	0.54385	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.359353	0.25642	N	0.029265	T	0.54743	0.1877	L	0.46157	1.445	0.37503	D	0.916849	P	0.43231	0.801	B	0.43990	0.438	T	0.62163	-0.6912	10	0.45353	T	0.12	.	13.8109	0.63262	0.1526:0.8474:0.0:0.0	.	49	Q05707	COEA1_HUMAN	L	49	ENSP00000443974:S49L;ENSP00000311809:S49L;ENSP00000297848:S49L;ENSP00000247781:S49L	ENSP00000247781:S49L	S	+	2	0	COL14A1	121239607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.681000	0.54648	2.515000	0.84797	0.650000	0.86243	TCA		0.348	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		19	77	0	0	0	1	0	19	77				
SPATA31E1	286234	broad.mit.edu	37	9	90499850	90499850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:90499850G>A	ENST00000325643.5	+	4	514	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	150					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTCGCTGGCGAAGGCAGCTC	0.652																																						ENST00000325643.5																			0											c.(448-450)Gaa>Aaa		SPATA31 subfamily E, member 1							29.0	30.0	30.0					9																	90499850		2203	4299	6502	SO:0001583	missense	286234							g.chr9:90499850G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.448G>A	9.37:g.90499850G>A	ENSP00000322640:p.Glu150Lys						p.E150K	NM_178828.4	NP_849150.3					4	514	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.448G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	0.116	-1.131440	0.01756	.	.	ENSG00000177992	ENST00000325643	T	0.02863	4.13	2.16	-4.33	0.03677	.	4.523970	0.00567	N	0.000297	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	1	B	0.33940	0.433	B	0.18263	0.021	T	0.42632	-0.9440	10	0.02654	T	1	.	4.8711	0.13633	0.306:0.1954:0.4985:0.0	.	150	Q6ZUB1	CI079_HUMAN	K	150	ENSP00000322640:E150K	ENSP00000322640:E150K	E	+	1	0	C9orf79	89689670	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.824000	0.04438	-1.325000	0.02269	-0.507000	0.04495	GAA		0.652	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		52	14	0	0	0	1	0	52	14				
MGAM	8972	broad.mit.edu	37	7	141764209	141764209	+	Silent	SNP	G	G	C			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr7:141764209G>C	ENST00000549489.2	+	37	4466	c.4371G>C	c.(4369-4371)ctG>ctC	p.L1457L	MGAM_ENST00000475668.2_Silent_p.L1457L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1457	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGGGGCCTGAGCAGCAAGA	0.567																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4369-4371)ctG>ctC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						32.0	34.0	33.0					7																	141764209		1954	4161	6115	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141764209G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4371G>C	7.37:g.141764209G>C						MGAM_ENST00000549489.2_Silent_p.L1457L	p.L1457L			O43451	MGA_HUMAN			37	4425	+	Melanoma(164;0.0272)		1457			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4371G>C	CCDS47727.1																																																																																				0.567	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	9	0	0	0	1	0	8	9				
IL1RAPL2	26280	broad.mit.edu	37	X	105011501	105011501	+	Silent	SNP	C	C	T			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chrX:105011501C>T	ENST00000372582.1	+	11	2664	c.1908C>T	c.(1906-1908)ggC>ggT	p.G636G	IL1RAPL2_ENST00000344799.4_Silent_p.G636G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	636					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTCCTTAGGCAACCACCATA	0.463																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1906-1908)ggC>ggT		interleukin 1 receptor accessory protein-like 2							126.0	128.0	128.0					X																	105011501		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011501C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1908C>T	X.37:g.105011501C>T						IL1RAPL2_ENST00000344799.4_Silent_p.G636G|IL1RAPL2_ENST00000538500.1_Silent_p.G241G	p.G636G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			11	2664	+			636					Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1908C>T	CCDS14517.1																																																																																				0.463	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		96	10	0	0	0	1	0	96	10				
RIN2	54453	broad.mit.edu	37	20	19970896	19970896	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr20:19970896A>G	ENST00000255006.6	+	9	2305	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.K237R	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	670	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCGGAAAAGAAGGTCATGCTG	0.547																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(2155-2157)aAg>aGg		Ras and Rab interactor 2							46.0	47.0	47.0					20																	19970896		2045	4201	6246	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19970896A>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2156A>G	20.37:g.19970896A>G	ENSP00000255006:p.Lys719Arg					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.K237R	p.K719R	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			9	2305	+			670			VPS9.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.2156A>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.941861	0.92526	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.62788	-0.0;-0.0	5.83	5.83	0.93111	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.93462	3.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.88563	0.3124	9	.	.	.	-23.7939	15.8552	0.78972	1.0:0.0:0.0:0.0	.	237;670	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	R	719;237	ENSP00000255006:K719R;ENSP00000391239:K237R	.	K	+	2	0	RIN2	19918896	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.225000	0.72522	0.482000	0.46254	AAG		0.547	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			9	19	0	0	0	1	0	9	19				
EGR4	1961	broad.mit.edu	37	2	73519760	73519762	+	In_Frame_Del	DEL	GCG	GCG	-	rs35980039	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:73519760_73519762delGCG	ENST00000545030.1	-	2	667_669	c.593_595delCGC	c.(592-597)ccgcac>cac	p.P198del	EGR4_ENST00000436467.2_In_Frame_Del_p.P95del	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	198	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCGGGTCGTGCGGGTGTTCGGG	0.66																																						ENST00000545030.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(592-597)cac>c		early growth response 4																																				SO:0001651	inframe_deletion	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73519760_73519762delGCG		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.593_595delCGC	2.37:g.73519760_73519762delGCG	ENSP00000445626:p.Pro198del					EGR4_ENST00000436467.2_In_Frame_Del_p.PH95del	p.PH198del	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN			2	667_669	-			94					B2RAE3|G3V1T5|Q2Z1P5	In_Frame_Del	DEL	ENST00000545030.1	37	c.593_595delCGC	CCDS1925.2																																																																																				0.660	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		9	25						9	25	---	---	---	---
NCAPH	23397	broad.mit.edu	37	2	97034730	97034730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:97034730delA	ENST00000240423.4	+	16	2062	c.2019delA	c.(2017-2019)ggafs	p.G673fs	NCAPH_ENST00000427946.1_Frame_Shift_Del_p.G537fs|NCAPH_ENST00000455200.1_Frame_Shift_Del_p.G662fs	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	673					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GGGAAGCTGGAAAAGAAGCGG	0.527																																						ENST00000455200.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1984-1986)ggfs		non-SMC condensin I complex, subunit H							29.0	28.0	29.0					2																	97034730		2177	4255	6432	SO:0001589	frameshift_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97034730delA	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2019delA	2.37:g.97034730delA	ENSP00000240423:p.Gly673fs					NCAPH_ENST00000427946.1_Frame_Shift_Del_p.G537fs|NCAPH_ENST00000240423.4_Frame_Shift_Del_p.G673fs	p.G662fs			Q15003	CND2_HUMAN			16	2281	+		Ovarian(717;0.0221)	673					B4E189|Q8TB87	Frame_Shift_Del	DEL	ENST00000240423.4	37	c.1986delA	CCDS2021.1																																																																																				0.527	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		2	4						2	4	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200298144	200298144	+	Missense_Mutation	SNP	C	C	T	rs530118484		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr2:200298144C>T	ENST00000417098.1	-	3	1079	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	SATB2_ENST00000457245.1_Missense_Mutation_p.R88Q|SATB2_ENST00000260926.5_Missense_Mutation_p.R88Q|SATB2_ENST00000428695.1_Missense_Mutation_p.R88Q|SATB2_ENST00000443023.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	88					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACATCTTTCCGCACCAGGAC	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17057	0.0		0.0	False		,,,				2504	0.0				Colon(30;262 767 11040 24421 36230)	ENST00000417098.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(262-264)cGg>cAg		SATB homeobox 2							124.0	121.0	122.0					2																	200298144		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298144C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.263G>A	2.37:g.200298144C>T	ENSP00000401112:p.Arg88Gln					SATB2_ENST00000428695.1_Missense_Mutation_p.R88Q|SATB2_ENST00000457245.1_Missense_Mutation_p.R88Q|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.R88Q	p.R88Q	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN			3	1079	-			88					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.263G>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818860	0.96982	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.63570	0.2522	L	0.48642	1.525	0.58432	D	0.999995	D;D	0.69078	0.997;0.981	D;P	0.67725	0.953;0.636	T	0.58842	-0.7565	10	0.42905	T	0.14	-9.7651	20.1606	0.98132	0.0:1.0:0.0:0.0	.	88;88	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	Q	88	ENSP00000401112:R88Q;ENSP00000260926:R88Q;ENSP00000388581:R88Q;ENSP00000405420:R88Q	ENSP00000260926:R88Q	R	-	2	0	SATB2	200006389	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.818000	0.86416	2.772000	0.95346	0.650000	0.86243	CGG		0.537	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		16	250	0	0	0	1	0	16	250				
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		8	312						8	312	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			12	114						12	114	---	---	---	---
NRM	11270	broad.mit.edu	37	6	30658718	30658718	+	Frame_Shift_Del	DEL	G	G	-	rs547236372		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:30658718delG	ENST00000259953.4	-	2	385	c.34delC	c.(34-36)ctcfs	p.L12fs	NRM_ENST00000376420.5_Frame_Shift_Del_p.L12fs|NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Frame_Shift_Del_p.L12fs	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	12						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)				large_intestine(1)|lung(2)	3						AAAGAGGCGAGGGCAGCAGGG	0.672																																						ENST00000259953.4																			0				large_intestine(1)|lung(2)	3						c.(34-36)tcfs		nurim (nuclear envelope membrane protein)							44.0	39.0	41.0					6																	30658718		1507	2709	4216	SO:0001589	frameshift_variant	11270					integral to membrane|nuclear inner membrane		g.chr6:30658718delG	AF143676	CCDS4686.1, CCDS59498.1	6p21.3	2010-02-17			ENSG00000137404	ENSG00000137404			8003	protein-coding gene	gene with protein product						10402458, 17517639	Standard	NM_007243		Approved	NRM29	uc031sng.1	Q8IXM6	OTTHUMG00000031223	ENST00000259953.4:c.34delC	6.37:g.30658718delG	ENSP00000259953:p.Leu12fs					NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Frame_Shift_Del_p.L12fs|NRM_ENST00000376420.5_Frame_Shift_Del_p.L12fs	p.L12fs	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN			2	385	-			12					B0S7R0|B0S7R1|I3XIE2|I3XIE3|Q5JP57|Q5JP58|Q5JP59|Q5JP60|Q8WU45|Q9BSX3|Q9UN92	Frame_Shift_Del	DEL	ENST00000259953.4	37	c.34delC	CCDS4686.1																																																																																				0.672	NRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076466.2			17	42						17	42	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	300						7	300	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			9	252						9	252	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90572112	90572146	+	RNA	DEL	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	ACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	-	rs202238236|rs377049861|rs368353175		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:90572112_90572146delACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	ENST00000551025.1	+	0	2121_2155									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGTTTGGTCACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAAATGAGGATAG	0.404																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2																																						9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572112_90572146delACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572112_90572146delACGTTCTCATTATCAGGTTGGCGAGGGTAGCTCAA										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2121_2155	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	DEL	ENST00000551025.1	37																																																																																						0.404	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		8	224						8	224	---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs71815788|rs55736770	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_ENST00000230354.6_In_Frame_Del_p.Q95del|TBP_ENST00000540980.1_In_Frame_Del_p.Q75del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing. {ECO:0000269|PubMed:2374612}.	Missing (in Ref. 4; BAG65425). {ECO:0000305}.	cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)del		TATA box binding protein																																				SO:0001651	inframe_deletion	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871038_170871040delCAA	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.214_216delCAA	6.37:g.170871038_170871040delCAA	ENSP00000375942:p.Gln95del					TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	493_495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	95		Missing.	Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Del	DEL	ENST00000392092.2	37	c.214_216delCAA	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		13	60						13	60	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139890006	139890007	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr8:139890006_139890007delGC	ENST00000303045.6	-	3	1090_1091	c.644_645delGC	c.(643-645)cgcfs	p.R216fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.R216fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	216					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R215H(1)		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)			CACAAAGACGGCGCCGCAGCTT	0.653										HNSCC(7;0.00092)																												ENST00000303045.6																			1	Substitution - Missense(1)	p.R215H(1)	endometrium(1)	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.(643-645)cfs		collagen, type XXII, alpha 1																																				SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890006_139890007delGC	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.644_645delGC	8.37:g.139890008_139890009delGC	ENSP00000303153:p.Arg216fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.R216fs	p.R216fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1090_1091	-	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)		216					B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.644_645delGC	CCDS6376.1																																																																																				0.653	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		52	79						52	79	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													g|G|-|deletion	1256	0.250799	0.2352	0.2061	5008	,	,		15575	0.3968		0.174	False		,,,				2504	0.2321					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1597-1599)gcfs		contactin associated protein-like 3B																																				SO:0001589	frameshift_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43844265delG	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1599delG	9.37:g.43844265delG	ENSP00000366787:p.Ala533fs						p.A533fs	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			10	1992	+			533			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Frame_Shift_Del	DEL	ENST00000377564.3	37	c.1599delG	CCDS55312.1																																																																																				0.542	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			7	28						7	28	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18276472	18276472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr10:18276472delG	ENST00000377369.2	+	7	1434	c.1161delG	c.(1159-1161)ctgfs	p.L387fs	SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.L253fs	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	387					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGACAGCGCTGGTCCTTTTCC	0.552																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1159-1161)ctfs		solute carrier family 39 (zinc transporter), member 12							156.0	123.0	134.0					10																	18276472		2203	4300	6503	SO:0001589	frameshift_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276472delG		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1161delG	10.37:g.18276472delG	ENSP00000366586:p.Leu387fs					SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.L387fs|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.L253fs	p.L387fs	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1434	+			387					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Frame_Shift_Del	DEL	ENST00000377369.2	37	c.1161delG	CCDS44362.1																																																																																				0.552	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		65	19						65	19	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			101927708							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			7	4						7	4	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		23	94						23	94	---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133780276	133780307	+	Frame_Shift_Del	DEL	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	TGGATGCAGTCAATGTGCAAAAACCTTTAGTT	-	rs570133445|rs373819224		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr12:133780276_133780307delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	ENST00000536435.2	+	6	2334_2365	c.2004_2035delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	c.(2002-2037)tatggatgcagtcaatgtgcaaaaacctttagtttgfs	p.GCSQCAKTFSL669fs	ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.GCSQCAKTFSL508fs|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.GCSQCAKTFSL669fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	669					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAAACCCTATGGATGCAGTCAATGTGCAAAAACCTTTAGTTTGAAGTCCCA	0.418																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(2002-2037)tatgfs		zinc finger protein 268																																				SO:0001589	frameshift_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133780276_133780307delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2004_2035delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	12.37:g.133780276_133780307delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	ENSP00000444412:p.Gly669fs					ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.YGCSQCAKTFSL507fs|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.YGCSQCAKTFSL668fs|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR	p.YGCSQCAKTFSL668fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	2334_2365	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	668					Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Del	DEL	ENST00000536435.2	37	c.2004_2035delTGGATGCAGTCAATGTGCAAAAACCTTTAGTT	CCDS45012.1																																																																																				0.418	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		4	6						4	6	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-	rs528863117		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)accctc>acc	p.L11del	LRP10_ENST00000546834.1_In_Frame_Del_p.L11del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	11					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.67																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(13-18)acc>ac		low density lipoprotein receptor-related protein 10																																				SO:0001651	inframe_deletion	26020				endocytosis	coated pit|integral to membrane		g.chr14:23341527_23341529delCCT	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.15_17delCCT	14.37:g.23341536_23341538delCCT	ENSP00000352601:p.Leu11del					LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	1	706_708	+	all_cancers(95;4.69e-05)		5					A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	In_Frame_Del	DEL	ENST00000359591.4	37	c.15_17delCCT	CCDS9578.1																																																																																				0.670	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			7	177						7	177	---	---	---	---
BRICD5	283870	broad.mit.edu	37	16	2260243	2260243	+	Frame_Shift_Del	DEL	G	G	-	rs376105618		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr16:2260243delG	ENST00000562360.1	-	3	219	c.220delC	c.(220-222)cacfs	p.H74fs	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_Frame_Shift_Del_p.H74fs|BRICD5_ENST00000566018.1_Frame_Shift_Del_p.H74fs			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	74						integral component of membrane (GO:0016021)											CGGGGCATGTGGGGGCTCGGG	0.667																																						ENST00000328540.3																			0											c.(220-222)acfs		BRICHOS domain containing 5							29.0	25.0	26.0					16																	2260243		2178	4284	6462	SO:0001589	frameshift_variant	283870							g.chr16:2260243delG	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.220delC	16.37:g.2260243delG	ENSP00000455052:p.His74fs					BRICD5_ENST00000566018.1_Frame_Shift_Del_p.H74fs|BRICD5_ENST00000562360.1_Frame_Shift_Del_p.H74fs	p.H74fs	NM_182563.3	NP_872369.2					3	1336	-								C9J7K2|Q8IXU9	Frame_Shift_Del	DEL	ENST00000562360.1	37	c.220delC	CCDS10463.1																																																																																				0.667	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		2	4						2	4	---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5268514	5268515	+	Frame_Shift_Ins	INS	-	-	CGAAGATT			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:5268514_5268515insCGAAGATT	ENST00000546142.2	+	11	1953_1954	c.1766_1767insCGAAGATT	c.(1765-1770)agcgaafs	p.-592fs	RABEP1_ENST00000341923.6_Frame_Shift_Ins_p.-592fs|RABEP1_ENST00000408982.2_Frame_Shift_Ins_p.-592fs|RABEP1_ENST00000537505.1_Frame_Shift_Ins_p.-549fs|RABEP1_ENST00000262477.6_Frame_Shift_Ins_p.-592fs|NUP88_ENST00000573169.1_Intron|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AAGCAAAGCAGCGAAGATTCGA	0.406																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1765-1767)agafs		rabaptin, RAB GTPase binding effector protein 1																																				SO:0001589	frameshift_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5268514_5268515insCGAAGATT	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1767_1774dupCGAAGATT	17.37:g.5268515_5268522dupCGAAGATT	ENSP00000437701:p.Ser592fs					RABEP1_ENST00000546142.2_Frame_Shift_Ins_p.R589fs|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000537505.1_Frame_Shift_Ins_p.R546fs|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000408982.2_Frame_Shift_Ins_p.R589fs|RABEP1_ENST00000341923.6_Frame_Shift_Ins_p.R589fs	p.R589fs	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			11	1990_1991	+			589					B2RAG7|O95369|Q8IVX3	Frame_Shift_Ins	INS	ENST00000546142.2	37	c.1766_1767insCGAAGATT	CCDS45592.1																																																																																				0.406	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		8	176						8	176	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-	rs146612839		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	167						7	167	---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17918790	17918802	+	Frame_Shift_Del	DEL	GGCCCCGTGCCAT	GGCCCCGTGCCAT	-	rs377004909|rs200510528		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:17918790_17918802delGGCCCCGTGCCAT	ENST00000318683.6	+	2	321_333	c.174_186delGGCCCCGTGCCAT	c.(172-186)ccggccccgtgccatfs	p.PAPCH58fs	B3GNT3_ENST00000595387.1_Frame_Shift_Del_p.PAPCH58fs	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	58					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCCAGCCCCGGCCCCGTGCCATGCCAACACCT	0.671																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(172-186)ccfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3																																				SO:0001589	frameshift_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918790_17918802delGGCCCCGTGCCAT	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.174_186delGGCCCCGTGCCAT	19.37:g.17918790_17918802delGGCCCCGTGCCAT	ENSP00000321874:p.Pro58fs					B3GNT3_ENST00000595387.1_Frame_Shift_Del_p.PAPCH58fs	p.PAPCH58fs	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	321_333	+			58					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Frame_Shift_Del	DEL	ENST00000318683.6	37	c.174_186delGGCCCCGTGCCAT	CCDS12364.1																																																																																				0.671	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		9	28						9	28	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48184019	48184019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:48184019delC	ENST00000396720.3	+	6	1786	c.1592delC	c.(1591-1593)gccfs	p.A531fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	531										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCGTGTTGGCCCCCCACTCC	0.721																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(1591-1593)gcfs		glioma tumor suppressor candidate region gene 1							24.0	29.0	28.0					19																	48184019		1855	4032	5887	SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48184019delC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.1592delC	19.37:g.48184019delC	ENSP00000379946:p.Ala531fs					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.A531fs	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	6	1786	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	531					A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	37	c.1592delC	CCDS46134.1																																																																																				0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		74	88						74	88	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55597804	55597804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr19:55597804delT	ENST00000201647.6	+	17	1751	c.1695delT	c.(1693-1695)cctfs	p.P566fs	EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.P252fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.P439fs|EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.P502fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	566	Pro-rich.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		cggccccacctccagcTCTGG	0.672																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1693-1695)ccfs		EPS8-like 1							31.0	24.0	27.0					19																	55597804		2131	4184	6315	SO:0001589	frameshift_variant	54869					cytoplasm		g.chr19:55597804delT	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1695delT	19.37:g.55597804delT	ENSP00000201647:p.Pro566fs					EPS8L1_ENST00000540810.1_Frame_Shift_Del_p.P502fs|EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.P252fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Frame_Shift_Del_p.P439fs	p.P566fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	17	1751	+			566			Pro-rich.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Del	DEL	ENST00000201647.6	37	c.1695delT	CCDS12914.1																																																																																				0.672	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		2	4						2	4	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25294221	25294223	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:25294221_25294223delGAT	ENST00000400359.4	+	20	2477_2479	c.2470_2472delGAT	c.(2470-2472)gatdel	p.D824del	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_In_Frame_Del_p.D769del	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	824	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CACATCTCAGGATGAGGCTCCCC	0.645																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2305-2307)del		small G protein signaling modulator 1																																				SO:0001651	inframe_deletion	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294221_25294223delGAT	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2470_2472delGAT	22.37:g.25294221_25294223delGAT	ENSP00000383212:p.Asp824del					SGSM1_ENST00000400359.4_In_Frame_Del_p.D824del	p.D769del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2362_2364	+			824			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	In_Frame_Del	DEL	ENST00000400359.4	37	c.2305_2307delGAT	CCDS46674.1																																																																																				0.645	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		22	17						22	17	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40803492	40803494	+	IGR	DEL	CGG	CGG	-	rs370733619		TCGA-CV-7446-01A-11D-2229-08	TCGA-CV-7446-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e388b6f1-51f8-48b0-8eab-aac34c46ab5f	ab1a6865-effc-4f4c-80e3-48ef5c7028e2	g.chr22:40803492_40803494delCGG	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_In_Frame_Del_p.R417del|SGSM3_ENST00000248929.9_In_Frame_Del_p.R484del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACGCAGCCACCGGCGCCGAGCCA	0.64			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1444-1446)del		small G protein signaling modulator 3																																				SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803492_40803494delCGG	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803492_40803494delCGG						SGSM3_ENST00000454798.2_In_Frame_Del_p.R417del	p.R484del	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			13	1633_1635	+			484			SH3.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.1444_1446delCGG	CCDS14003.1																																																																																				0.640	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		21	44						21	44	---	---	---	---
