#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
TUBB3	10381	broad.mit.edu	37	16	90001818	90001818	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90001818G>A	ENST00000315491.7	+	4	1082	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB3_ENST00000304984.5_Missense_Mutation_p.R248H|TUBB3_ENST00000556922.1_Missense_Mutation_p.R667H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.R248H	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	320					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TTCCGGGGCCGCATGTCCATG	0.632																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(742-744)cGc>cAc		tubulin, beta 3 class III							122.0	111.0	114.0					16																	90001818		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001818G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.959G>A	16.37:g.90001818G>A	ENSP00000320295:p.Arg320His					TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R667H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R248H|TUBB3_ENST00000315491.7_Missense_Mutation_p.R320H	p.R248H			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	3038	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	320					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.743G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757979	0.49468	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.6	4.6	0.57074	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000023	D	0.86377	0.5918	M	0.72624	2.21	0.51482	D	0.999926	B;P	0.42941	0.217;0.794	B;B	0.43867	0.434;0.434	D	0.86789	0.1984	9	.	.	.	.	17.3629	0.87356	0.0:0.0:1.0:0.0	.	320;320	Q13509;B2RBD5	TBB3_HUMAN;.	H	667;320;248;248;320	ENSP00000451560:R667H;ENSP00000302777:R248H;ENSP00000451617:R248H;ENSP00000320295:R320H	.	R	+	2	0	RP11-566K11.2;TUBB3	88529319	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.457000	0.73505	2.278000	0.76064	0.511000	0.50034	CGC		0.632	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		6	630	0	0	0	1	0	6	630				
ATP13A2	23400	broad.mit.edu	37	1	17313653	17313653	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:17313653G>A	ENST00000326735.8	-	26	3004	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R986W			Q9NQ11	AT132_HUMAN	ATPase type 13A2	991					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCCGGTGGCCGCACCCGTCCC	0.687																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2956-2958)Cgg>Tgg		ATPase type 13A2							46.0	43.0	44.0					1																	17313653		2203	4299	6502	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17313653G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2971C>T	1.37:g.17313653G>A	ENSP00000327214:p.Arg991Trp					ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R991W	p.R986W	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	26	3145	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	991					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2956C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745542	0.69418	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.37	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.92219	3.285	0.45806	D	0.998684	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.96317	0.9233	10	0.87932	D	0	-37.805	14.0426	0.64687	0.0:0.0:1.0:0.0	.	947;986;991	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	W	991;947;986;187	ENSP00000327214:R991W;ENSP00000341115:R947W;ENSP00000413307:R986W;ENSP00000423065:R187W	ENSP00000327214:R991W	R	-	1	2	ATP13A2	17186240	1.000000	0.71417	0.993000	0.49108	0.482000	0.33219	5.012000	0.64017	2.390000	0.81377	0.561000	0.74099	CGG		0.687	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		4	151	0	0	0	1	0	4	151				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		9	414	0	0	0	1	0	9	414				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	1305	0	0	0	1	0	7	1305				
OR52B4	143496	broad.mit.edu	37	11	4389022	4389022	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:4389022C>T	ENST00000408920.2	-	1	594	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	168					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGAAAGTCAATCTTTTTA	0.343																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(502-504)ttG>ttA		olfactory receptor, family 52, subfamily B, member 4							63.0	61.0	62.0					11																	4389022		1822	4078	5900	SO:0001819	synonymous_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389022C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.504G>A	11.37:g.4389022C>T							p.L168L	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	594	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	168					A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	c.504G>A	CCDS41609.1																																																																																				0.343	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		11	360	0	0	0	1	0	11	360				
SCN1A	6323	broad.mit.edu	37	2	166930064	166930064	+	Missense_Mutation	SNP	G	G	A	rs139397227	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:166930064G>A	ENST00000303395.4	-	1	67	c.68C>T	c.(67-69)gCg>gTg	p.A23V	SCN1A_ENST00000423058.2_Missense_Mutation_p.A23V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	23					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCAATAGCCGCAAGAGATTC	0.423													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17024	0.0		0.0	False		,,,				2504	0.0					ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(67-69)gCg>gTg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	7,4399	14.3+/-33.2	0,7,2196	167.0	163.0	164.0		68,68,68,68	5.8	1.0	2	dbSNP_134	164	0,8600		0,0,4300	yes	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	64,64,64,64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	23/2010,23/1982,23/2010,23/1999	166930064	7,12999	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166930064G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.68C>T	2.37:g.166930064G>A	ENSP00000303540:p.Ala23Val					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA	p.A23V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			1	85	-			23					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.68C>T	CCDS54413.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.91	3.503542	0.64298	0.001589	0.0	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96802	-4.13;-4.13;-4.1;-4.08	5.77	5.77	0.91146	.	0.093676	0.46442	D	0.000293	D	0.95214	0.8448	L	0.53780	1.695	0.44570	D	0.997536	P	0.51057	0.941	P	0.46585	0.521	D	0.93992	0.7268	10	0.38643	T	0.18	.	14.2196	0.65818	0.0:0.0:0.8509:0.1491	.	23	P35498-2	.	V	23	ENSP00000407030:A23V;ENSP00000303540:A23V;ENSP00000364554:A23V;ENSP00000386312:A23V	ENSP00000303540:A23V	A	-	2	0	SCN1A	166638310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.216000	0.42871	2.885000	0.99019	0.655000	0.94253	GCG		0.423	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	693	0	0	0	1	0	6	693				
ABTB2	25841	broad.mit.edu	37	11	34226220	34226220	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:34226220C>T	ENST00000435224.2	-	2	1325	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	301					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGAAGTATGCGGGGAGGGAG	0.637																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(901-903)Gca>Aca		ankyrin repeat and BTB (POZ) domain containing 2							33.0	36.0	35.0					11																	34226220		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34226220C>T	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.901G>A	11.37:g.34226220C>T	ENSP00000410157:p.Ala301Thr					ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T	p.A301T	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			2	1325	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	115					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.901G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989268	0.53934	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60040	0.22;0.22	5.1	5.1	0.69264	Histone-fold (2);	0.060615	0.64402	D	0.000004	T	0.43055	0.1230	L	0.42245	1.32	0.53005	D	0.999969	P	0.48640	0.913	B	0.33121	0.158	T	0.40942	-0.9536	10	0.21014	T	0.42	-16.1742	14.1808	0.65574	0.0:0.8504:0.1496:0.0	.	115	Q8N961	ABTB2_HUMAN	T	301;115	ENSP00000410157:A301T;ENSP00000298992:A115T	ENSP00000298992:A115T	A	-	1	0	ABTB2	34182796	1.000000	0.71417	0.253000	0.24343	0.787000	0.44495	5.696000	0.68287	2.366000	0.80165	0.455000	0.32223	GCA		0.637	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	144	0	0	0	1	0	4	144				
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1816-1818)Cgc>Tgc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							26.0	32.0	30.0					11																	124761327		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761327G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1816C>T	11.37:g.124761327G>A	ENSP00000304945:p.Arg606Cys					ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	p.R606C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2301	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	606					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1816C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937980	0.18206	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.24	6.11	1.95	0.26073	.	0.389841	0.19154	N	0.121379	T	0.52468	0.1736	M	0.65975	2.015	0.34129	D	0.665067	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.52094	-0.8621	10	0.33141	T	0.24	.	4.1764	0.10353	0.2735:0.0:0.5689:0.1575	.	606;496;606	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	606;496;461	ENSP00000304945:R606C;ENSP00000437129:R461C	ENSP00000304945:R606C	R	-	1	0	ROBO4	124266537	0.937000	0.31787	0.452000	0.26994	0.311000	0.27955	0.378000	0.20569	0.419000	0.25927	-0.137000	0.14449	CGC		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		12	176	0	0	0	1	0	12	176				
MYOM2	9172	broad.mit.edu	37	8	2041906	2041906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:2041906C>T	ENST00000262113.4	+	17	2254	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	705	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATAAAAGTGCAGGCCGCACT	0.488																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2113-2115)Cag>Tag		myomesin 2							164.0	134.0	144.0					8																	2041906		2203	4300	6503	SO:0001587	stop_gained	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2041906C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2113C>T	8.37:g.2041906C>T	ENSP00000262113:p.Gln705*					MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	p.Q705*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	17	2254	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	705					Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	c.2113C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297700	0.60086	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.44	5.44	0.79542	.	0.157344	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1534	0.65401	0.1499:0.8501:0.0:0.0	.	.	.	.	X	705;130	.	ENSP00000262113:Q705X	Q	+	1	0	MYOM2	2029313	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	2.879000	0.48522	2.558000	0.86282	0.655000	0.94253	CAG		0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		8	254	0	0	0	1	0	8	254				
MLKL	197259	broad.mit.edu	37	16	74729301	74729301	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74729301C>G	ENST00000308807.7	-	2	818	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATGCGTTGCTCAACCTGAAGT	0.517																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(355-357)Gag>Cag		mixed lineage kinase domain-like							183.0	156.0	165.0					16																	74729301		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74729301C>G	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.355G>C	16.37:g.74729301C>G	ENSP00000308351:p.Glu119Gln					MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	p.E119Q	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			2	818	-			119						Missense_Mutation	SNP	ENST00000308807.7	37	c.355G>C	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426535	0.25726	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.80214	-1.35;2.34	4.28	-8.57	0.00900	.	0.814893	0.10962	N	0.614861	T	0.57198	0.2037	N	0.24115	0.695	0.09310	N	1	P;P	0.42078	0.77;0.702	B;B	0.38712	0.28;0.217	T	0.54794	-0.8240	10	0.33940	T	0.23	1.4392	4.0588	0.09829	0.4262:0.1834:0.3155:0.075	.	119;119	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	Q	119	ENSP00000308351:E119Q;ENSP00000303118:E119Q	ENSP00000303118:E119Q	E	-	1	0	MLKL	73286802	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.375000	0.07475	-1.935000	0.01049	-1.051000	0.02340	GAG		0.517	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		18	485	0	0	0	1	0	18	485				
CHRNB4	1143	broad.mit.edu	37	15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AGGACGCTGCCGTTGGACCGG	0.572																																						ENST00000261751.3																			2	Substitution - Missense(2)	p.G139C(1)|p.G139S(1)	lung(2)	endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(415-417)Ggc>Agc		cholinergic receptor, nicotinic, beta 4 (neuronal)							41.0	44.0	43.0					15																	78922232		2196	4292	6488	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922232C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.415G>A	15.37:g.78922232C>T	ENSP00000261751:p.Gly139Ser					CHRNB4_ENST00000412074.2_Intron	p.G139S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	526	-			139					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.415G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783372	0.70222	.	.	ENSG00000117971	ENST00000261751	D	0.97352	-4.35	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99636	1.0987	10	0.72032	D	0.01	.	18.2167	0.89887	0.0:1.0:0.0:0.0	.	139	P30926	ACHB4_HUMAN	S	139	ENSP00000261751:G139S	ENSP00000261751:G139S	G	-	1	0	CHRNB4	76709287	1.000000	0.71417	0.956000	0.39512	0.065000	0.16274	7.766000	0.85320	2.301000	0.77427	0.655000	0.94253	GGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			6	192	0	0	0	1	0	6	192				
DNAH5	1767	broad.mit.edu	37	5	13891148	13891148	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2512-2514)acG>acA		dynein, axonemal, heavy chain 5							101.0	109.0	107.0					5																	13891148		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13891148C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2514G>A	5.37:g.13891148C>T						CTB-51A17.1_ENST00000503244.1_RNA	p.T838T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			17	2618	-	Lung NSC(4;0.00476)		838			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2514G>A	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	639	0	0	0	1	0	12	639				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			0							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			4	73	0	0	0	1	0	4	73				
ATP5B	506	broad.mit.edu	37	12	57037309	57037309	+	Missense_Mutation	SNP	C	C	T	rs200966693		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:57037309C>T	ENST00000262030.3	-	5	720	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ATP5B_ENST00000550162.1_5'Flank|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	224					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)	p.A224T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCTTTGGCGACATTGTTG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		17384	0.0		0.001	False		,,,				2504	0.0					ENST00000262030.3																			1	Substitution - Missense(1)	p.A224T(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(670-672)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							105.0	97.0	100.0					12																	57037309		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037309C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.670G>A	12.37:g.57037309C>T	ENSP00000262030:p.Ala224Thr					ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T	p.A224T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			5	720	-			224					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.670G>A	CCDS8924.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	27.9|27.9	4.873953|4.873953	0.91664|0.91664	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	T;T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26;-1.26|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.099413|.	0.64402|.	D|.	0.000002|.	D|D	0.84009|0.84009	0.5378|0.5378	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66084|.	0.941|.	D|D	0.85062|0.85062	0.0935|0.0935	10|5	0.87932|.	D|.	0|.	-3.7647|-3.7647	19.0535|19.0535	0.93054|0.93054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224|.	P06576|.	ATPB_HUMAN|.	T|H	224;224;163;17;125|160	ENSP00000262030:A224T;ENSP00000450297:A224T;ENSP00000446677:A163T;ENSP00000448428:A17T;ENSP00000447571:A125T|.	ENSP00000262030:A224T|.	A|R	-|-	1|2	0|0	ATP5B|ATP5B	55323576|55323576	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.993000|0.993000	0.82548|0.82548	7.688000|7.688000	0.84153|0.84153	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.413	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		5	398	0	0	0	1	0	5	398				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		7	274	0	0	0	1	0	7	274				
HUWE1	10075	broad.mit.edu	37	X	53566769	53566769	+	Silent	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:53566769G>T	ENST00000342160.3	-	74	11938	c.11481C>A	c.(11479-11481)tcC>tcA	p.S3827S	HUWE1_ENST00000262854.6_Silent_p.S3827S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3827					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGTTCCATCGGAGGCTGGAG	0.502																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11479-11481)tcC>tcA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							39.0	32.0	34.0					X																	53566769		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53566769G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11481C>A	X.37:g.53566769G>T						HUWE1_ENST00000262854.6_Silent_p.S3827S	p.S3827S			Q7Z6Z7	HUWE1_HUMAN			74	11938	-			3827					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.11481C>A	CCDS35301.1																																																																																				0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	78	1	0	1.024e-07	1	1.05661e-07	4	78				
SCN5A	6331	broad.mit.edu	37	3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	rs199473605		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATGAGGCAGACGAGGAGGACG	0.577																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4018-4020)Gtc>Atc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						112.0	106.0	108.0					3																	38601865		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38601865C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile					SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I	p.V1340I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	23	4211	-	Medulloblastoma(35;0.163)		1340					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4018G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		8	180	0	0	0	1	0	8	180				
TCP11	6954	broad.mit.edu	37	6	35088799	35088799	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:35088799C>T	ENST00000512012.1	-	5	758	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	TCP11_ENST00000311875.5_Missense_Mutation_p.R214Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	201					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATTTTCATCCGGCCCAGAAC	0.453																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(640-642)cGg>cAg		t-complex 11, testis-specific							150.0	152.0	152.0					6																	35088799		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088799C>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.602G>A	6.37:g.35088799C>T	ENSP00000425995:p.Arg201Gln					TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000512012.1_Missense_Mutation_p.R201Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q	p.R214Q			Q8WWU5	TCP11_HUMAN			6	1058	-			201					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.641G>A		.	.	.	.	.	.	.	.	.	.	C	15.91	2.971417	0.53614	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84	4.32	1.82	0.25136	.	0.185314	0.36519	N	0.002545	T	0.00754	0.0025	N	0.00707	-1.245	0.22366	N	0.999167	B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.0	B;B;B;B;B;B	0.11329	0.0;0.0;0.0;0.006;0.002;0.0	T	0.47275	-0.9130	10	0.18276	T	0.48	-19.5481	7.189	0.25814	0.7046:0.1469:0.0:0.1485	.	168;163;209;274;201;139	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	Q	139;163;139;163;214;209;168;138;201;60	ENSP00000363091:R139Q;ENSP00000402816:R163Q;ENSP00000244645:R139Q;ENSP00000308708:R214Q;ENSP00000404479:R209Q;ENSP00000363085:R168Q;ENSP00000415320:R138Q;ENSP00000425995:R201Q;ENSP00000421103:R60Q	ENSP00000244645:R139Q	R	-	2	0	TCP11	35196777	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.709000	0.54853	0.265000	0.21872	-0.375000	0.07067	CGG		0.453	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		24	562	0	0	0	1	0	24	562				
ABCA13	154664	broad.mit.edu	37	7	48494876	48494876	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:48494876T>C	ENST00000435803.1	+	43	12832	c.12808T>C	c.(12808-12810)Ttt>Ctt	p.F4270L	ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4270					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGAGACCTACTTTTTCAGGTA	0.463																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12808-12810)Ttt>Ctt		ATP-binding cassette, sub-family A (ABC1), member 13							24.0	27.0	26.0					7																	48494876		1902	4092	5994	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48494876T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12808T>C	7.37:g.48494876T>C	ENSP00000411096:p.Phe4270Leu					ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	p.F4270L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			43	12832	+			4270					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12808T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087255	0.55968	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.91407	-2.32;-2.39;-2.84	5.0	5.0	0.66597	.	0.000000	0.49916	D	0.000134	D	0.94984	0.8377	M	0.86420	2.815	0.44234	D	0.997078	P;D;D	0.69078	0.745;0.99;0.997	P;D;D	0.75020	0.652;0.909;0.985	D	0.94276	0.7515	10	0.35671	T	0.21	.	11.3979	0.49854	0.0:0.0:0.0:1.0	.	30;1972;4270	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4270;73;30	ENSP00000411096:F4270L;ENSP00000391042:F73L;ENSP00000442634:F30L	ENSP00000391042:F73L	F	+	1	0	ABCA13	48465422	1.000000	0.71417	0.964000	0.40570	0.174000	0.22865	4.818000	0.62657	2.006000	0.58801	0.459000	0.35465	TTT		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	71	0	0	0	1	0	7	71				
PBLD	64081	broad.mit.edu	37	10	70056061	70056061	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:70056061G>A	ENST00000358769.2	-	4	447	c.245C>T	c.(244-246)gCc>gTc	p.A82V	PBLD_ENST00000432941.1_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000495025.2_Missense_Mutation_p.A82V|PBLD_ENST00000309049.4_Missense_Mutation_p.A82V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	82					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCAGGGTGGCATGGCCACA	0.423																																						ENST00000358769.2																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(244-246)gCc>gTc		phenazine biosynthesis-like protein domain containing							51.0	51.0	51.0					10																	70056061		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70056061G>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.245C>T	10.37:g.70056061G>A	ENSP00000351619:p.Ala82Val					PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000277795.4_Intron|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V	p.A82V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN			4	447	-			82					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.245C>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517219	0.85495	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.67	4.76	0.60689	.	0.058094	0.64402	D	0.000002	T	0.74741	0.3756	H	0.96269	3.795	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83322	-0.0017	10	0.87932	D	0	-10.1697	13.9539	0.64135	0.0:0.1521:0.8479:0.0	.	82;82	C9JIM0;P30039	.;PBLD_HUMAN	V	49;82;82;82	ENSP00000338041:A49V;ENSP00000351619:A82V;ENSP00000308466:A82V;ENSP00000395534:A82V	ENSP00000308466:A82V	A	-	2	0	PBLD	69726067	1.000000	0.71417	0.923000	0.36655	0.851000	0.48451	5.741000	0.68638	1.378000	0.46305	0.561000	0.74099	GCC		0.423	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		5	200	0	0	0	1	0	5	200				
EIF3A	8661	broad.mit.edu	37	10	120801889	120801889	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:120801889G>A	ENST00000369144.3	-	19	3270	c.3143C>T	c.(3142-3144)cCg>cTg	p.P1048L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCCTCGCCTCGGCCCCCGGTC	0.607																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3142-3144)cCg>cTg		eukaryotic translation initiation factor 3, subunit A							283.0	221.0	242.0					10																	120801889		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801889G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3143C>T	10.37:g.120801889G>A	ENSP00000358140:p.Pro1048Leu					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	p.P1048L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3270	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1048			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3143C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917505	0.33815	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25579	1.79;1.8	5.41	0.456	0.16655	.	0.187445	0.25433	N	0.030713	T	0.22820	0.0551	M	0.76002	2.32	0.80722	D	1	P;B	0.37061	0.58;0.002	B;B	0.26202	0.067;0.001	T	0.06463	-1.0825	10	0.49607	T	0.09	-0.3992	10.0066	0.41961	0.3389:0.0:0.6611:0.0	.	1014;1048	F5H335;Q14152	.;EIF3A_HUMAN	L	1048;1014	ENSP00000358140:P1048L;ENSP00000438178:P1014L	ENSP00000358140:P1048L	P	-	2	0	EIF3A	120791879	0.989000	0.36119	0.065000	0.19835	0.956000	0.61745	1.972000	0.40540	-0.059000	0.13154	-0.126000	0.14955	CCG		0.607	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		9	759	0	0	0	1	0	9	759				
SHCBP1	79801	broad.mit.edu	37	16	46615801	46615801	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:46615801G>A	ENST00000303383.3	-	13	2125	c.1859C>T	c.(1858-1860)gCt>gTt	p.A620V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	620					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGTGGAGGCAGCAATTAGTTC	0.438																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1858-1860)gCt>gTt		SHC SH2-domain binding protein 1							155.0	135.0	142.0					16																	46615801		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46615801G>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1859C>T	16.37:g.46615801G>A	ENSP00000306473:p.Ala620Val						p.A620V	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			13	2125	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	620					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.1859C>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573027	0.45798	.	.	ENSG00000171241	ENST00000303383	T	0.32515	1.45	4.06	2.08	0.27032	.	0.221701	0.45867	N	0.000329	T	0.21468	0.0517	L	0.34521	1.04	0.51767	D	0.999938	B	0.13145	0.007	B	0.12156	0.007	T	0.05616	-1.0874	10	0.72032	D	0.01	-3.4401	8.1001	0.30852	0.2676:0.0:0.7324:0.0	.	620	Q8NEM2	SHCBP_HUMAN	V	620	ENSP00000306473:A620V	ENSP00000306473:A620V	A	-	2	0	SHCBP1	45173302	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	2.791000	0.47829	0.362000	0.24319	0.563000	0.77884	GCT		0.438	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		5	407	0	0	0	1	0	5	407				
FASN	2194	broad.mit.edu	37	17	80046303	80046303	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:80046303G>A	ENST00000306749.2	-	16	2774	c.2556C>T	c.(2554-2556)aaC>aaT	p.N852N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	852					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AACCTGAACCGTTGGGGAAGT	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2554-2556)aaC>aaT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28.0	36.0	34.0					17																	80046303		2196	4292	6488	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046303G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2556C>T	17.37:g.80046303G>A							p.N852N	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		16	2774	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		852					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2556C>T	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	142	0	0	0	1	0	5	142				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	530	0	0	0	1	0	5	530				
MLLT3	4300	broad.mit.edu	37	9	20414295	20414295	+	Silent	SNP	G	G	A	rs62637688		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:20414295G>A	ENST00000380338.4	-	5	835	c.549C>T	c.(547-549)agC>agT	p.S183S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S180S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	183	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)				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)		tgctgctgctgctactgctgc	0.522			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				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.(547-549)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							46.0	54.0	51.0					9																	20414295		2203	4299	6502	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414295G>A	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.549C>T	9.37:g.20414295G>A						MLLT3_ENST00000429426.2_Silent_p.S180S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S183S	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	835	-			183			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.549C>T	CCDS6494.1																																																																																				0.522	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	371	0	0	0	1	0	5	371				
MICAL3	57553	broad.mit.edu	37	22	18301393	18301393	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:18301393C>T	ENST00000441493.2	-	26	4386	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1345	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCCTTGCTGCGGTCCACAGG	0.632																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4033-4035)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 3							52.0	62.0	59.0					22																	18301393		1988	4162	6150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301393C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4034G>A	22.37:g.18301393C>T	ENSP00000416015:p.Arg1345His						p.R1345H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4386	-		all_epithelial(15;0.198)	1345			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.4034G>A	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.557135|3.557135	0.65425|0.65425	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.78003	.|-1.14	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	D|D	0.86418|0.86418	0.5928|0.5928	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.86441|0.86441	0.1767|0.1767	5|9	.|0.44086	.|T	.|0.13	.|.	17.7462|17.7462	0.88421|0.88421	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1345	.|Q7RTP6	.|MICA3_HUMAN	T|H	327|1345	.|ENSP00000416015:R1345H	.|ENSP00000416015:R1345H	A|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681393|16681393	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.229000|0.229000	0.25112|0.25112	7.482000|7.482000	0.81143|0.81143	2.188000|2.188000	0.69820|0.69820	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.632	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			5	515	0	0	0	1	0	5	515				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		10	258	0	0	0	1	0	10	258				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	p.R213*	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)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	171	0	0	0	1	0	10	171				
PHACTR3	116154	broad.mit.edu	37	20	58318299	58318299	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:58318299G>A	ENST00000371015.1	+	2	723	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	86						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAAGAAAAACGAAAAACTGAA	0.577																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(256-258)Gaa>Aaa		phosphatase and actin regulator 3																																				SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318299G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.256G>A	20.37:g.58318299G>A	ENSP00000360054:p.Glu86Lys					PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K	p.E86K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	723	+	all_lung(29;0.00344)		86					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.256G>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154383	0.94686	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.46063	1.21;1.15;0.88;1.24;1.24;1.24;0.88	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.988;0.986;0.986	T	0.66670	-0.5865	10	0.51188	T	0.08	-17.4511	15.6464	0.77055	0.0:0.0:1.0:0.0	.	45;86;83	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	K	83;86;45;45;45;45;45	ENSP00000353002:E83K;ENSP00000360054:E86K;ENSP00000379001:E45K;ENSP00000442483:E45K;ENSP00000347866:E45K;ENSP00000378998:E45K;ENSP00000354555:E45K	ENSP00000347866:E45K	E	+	1	0	PHACTR3	57751694	1.000000	0.71417	0.934000	0.37439	0.898000	0.52572	9.593000	0.98250	1.910000	0.55303	0.462000	0.41574	GAA		0.577	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		9	225	0	0	0	1	0	9	225				
TEX15	56154	broad.mit.edu	37	8	30705431	30705431	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:30705431C>T	ENST00000256246.2	-	1	1177	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	368					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTATTTTCCCCAATTTCAG	0.383																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1102-1104)gGg>gAg		testis expressed 15							77.0	75.0	76.0					8																	30705431		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705431C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1103G>A	8.37:g.30705431C>T	ENSP00000256246:p.Gly368Glu						p.G368E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1177	-			368						Missense_Mutation	SNP	ENST00000256246.2	37	c.1103G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.000801	0.00431	.	.	ENSG00000133863	ENST00000256246	T	0.08193	3.12	5.51	-1.54	0.08584	.	0.673251	0.14063	N	0.343910	T	0.02156	0.0067	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.87932	D	0	.	1.294	0.02066	0.1349:0.2395:0.1397:0.4859	.	368	Q9BXT5	TEX15_HUMAN	E	368	ENSP00000256246:G368E	ENSP00000256246:G368E	G	-	2	0	TEX15	30824973	0.043000	0.20138	0.001000	0.08648	0.169000	0.22640	0.166000	0.16583	-0.412000	0.07519	-0.312000	0.09012	GGG		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			14	369	0	0	0	1	0	14	369				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			12	163	0	0	0	1	0	12	163				
SEL1L2	80343	broad.mit.edu	37	20	13850192	13850192	+	Silent	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:13850192T>C	ENST00000284951.5	-	14	1286	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1210-1212)aaA>aaG		sel-1 suppressor of lin-12-like 2 (C. elegans)							106.0	99.0	101.0					20																	13850192		1868	4113	5981	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13850192T>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1212A>G	20.37:g.13850192T>C						SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR	p.K404K			Q5TEA6	SE1L2_HUMAN			14	1286	-			404					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1212A>G																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		4	272	0	0	0	1	0	4	272				
SLC26A6	65010	broad.mit.edu	37	3	48667366	48667366	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48667366C>T	ENST00000395550.2	-	13	1515	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	SLC26A6_ENST00000358747.6_Missense_Mutation_p.D469N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	490					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AAGCCAAGGTCCAGGTTCAGC	0.607																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1405-1407)Gac>Aac		solute carrier family 26 (anion exchanger), member 6							77.0	90.0	86.0					3																	48667366		2134	4237	6371	SO:0001583	missense	65010							g.chr3:48667366C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1468G>A	3.37:g.48667366C>T	ENSP00000378920:p.Asp490Asn					SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D490N	p.D469N	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	12	1655	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1405G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416008	0.96092	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.93859	-3.03;-3.03;-3.15;-2.99;-3.02;-3.12;-3.3	4.92	4.92	0.64577	.	.	.	.	.	D	0.97142	0.9066	M	0.86343	2.81	0.58432	D	0.999999	D;P;D;D;D;D;D	0.89917	1.0;0.952;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.97110	1.0;0.841;1.0;1.0;1.0;1.0;0.996	D	0.97654	1.0156	9	0.87932	D	0	.	18.6614	0.91473	0.0:1.0:0.0:0.0	.	454;503;383;490;490;490;3895	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	490;490;490;383;503;469;454;298	ENSP00000404684:D490N;ENSP00000378920:D490N;ENSP00000373239:D490N;ENSP00000337648:D383N;ENSP00000351597:D469N;ENSP00000401066:D454N;ENSP00000389922:D298N	ENSP00000337648:D383N	D	-	1	0	SLC26A6	48642370	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.298000	0.59067	2.699000	0.92147	0.655000	0.94253	GAC		0.607	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		12	205	0	0	0	1	0	12	205				
ABCC2	1244	broad.mit.edu	37	10	101611304	101611304	+	Silent	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:101611304T>C	ENST00000370449.4	+	32	4667	c.4554T>C	c.(4552-4554)ccT>ccC	p.P1518P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1518	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GCGGCAGCCCTGAAGAACTGC	0.448																																						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.(4552-4554)ccT>ccC		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						119.0	119.0	119.0					10																	101611304		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101611304T>C	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.4554T>C	10.37:g.101611304T>C							p.P1518P	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	32	4667	+		Colorectal(252;0.234)	1518			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.4554T>C	CCDS7484.1																																																																																				0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		5	551	0	0	0	1	0	5	551				
PDZD4	57595	broad.mit.edu	37	X	153069209	153069209	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:153069209C>T	ENST00000164640.4	-	8	2100	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	637						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGCTTGGCCACGTAGCGG	0.701																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1909-1911)Gcc>Acc		PDZ domain containing 4							39.0	38.0	39.0					X																	153069209		2200	4289	6489	SO:0001583	missense	57595					cell cortex		g.chrX:153069209C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1909G>A	X.37:g.153069209C>T	ENSP00000164640:p.Ala637Thr					PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T|PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T	p.A637T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2100	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		637					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1909G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	3.586	-0.084693	0.07097	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.40756	1.02;1.02;1.02	5.67	5.67	0.87782	.	0.103028	0.64402	D	0.000003	T	0.14830	0.0358	N	0.02120	-0.675	0.52501	D	0.999951	B;B;B;B;B	0.29612	0.035;0.06;0.251;0.251;0.012	B;B;B;B;B	0.25987	0.012;0.023;0.042;0.065;0.012	T	0.26155	-1.0111	10	0.02654	T	1	-31.8884	11.0287	0.47759	0.0:0.9117:0.0:0.0883	.	528;643;637;562;541	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	T	637;562;541;528	ENSP00000164640:A637T;ENSP00000377355:A562T;ENSP00000442033:A528T	ENSP00000164640:A637T	A	-	1	0	PDZD4	152722403	0.872000	0.30054	1.000000	0.80357	0.791000	0.44710	1.655000	0.37345	2.385000	0.81259	0.529000	0.55759	GCC		0.701	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	446	0	0	0	1	0	5	446				
POLR3C	10623	broad.mit.edu	37	1	145608249	145608249	+	Nonsense_Mutation	SNP	G	G	A	rs375263808		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:145608249G>A	ENST00000334163.3	-	4	608	c.448C>T	c.(448-450)Cga>Tga	p.R150*	POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*|POLR3C_ENST00000471254.1_5'UTR|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	150					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTGCCAGTCGCACAAATGTG	0.498																																						ENST00000334163.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(448-450)Cga>Tga		polymerase (RNA) III (DNA directed) polypeptide C (62kD)		G	stop/ARG	0,4406		0,0,2203	198.0	175.0	182.0		448	4.7	1.0	1		182	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	POLR3C	NM_006468.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		150/535	145608249	1,13005	2203	4300	6503	SO:0001587	stop_gained	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608249G>A	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.448C>T	1.37:g.145608249G>A	ENSP00000334564:p.Arg150*					POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*	p.R150*	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		4	608	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		150					O15317|Q9Y3R6	Nonsense_Mutation	SNP	ENST00000334163.3	37	c.448C>T	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884789	0.72410	0.0	1.16E-4	ENSG00000186141	ENST00000334163;ENST00000369294	.	.	.	5.62	4.69	0.59074	.	0.193584	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7899	13.4388	0.61101	0.0:0.0:0.8418:0.1582	.	.	.	.	X	150	.	ENSP00000334564:R150X	R	-	1	2	POLR3C	144319606	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	3.850000	0.55918	1.325000	0.45301	0.655000	0.94253	CGA		0.498	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		5	296	0	0	0	1	0	5	296				
GDF7	151449	broad.mit.edu	37	2	20870689	20870689	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:20870689C>T	ENST00000272224.3	+	2	1433	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	286					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCCGCGCCCAGGCCCGC	0.736																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(856-858)gCc>gTc		growth differentiation factor 7							4.0	5.0	4.0					2																	20870689		1414	2995	4409	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870689C>T	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.857C>T	2.37:g.20870689C>T	ENSP00000272224:p.Ala286Val						p.A286V	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1433	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		286						Missense_Mutation	SNP	ENST00000272224.3	37	c.857C>T	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960656	0.53400	.	.	ENSG00000143869	ENST00000272224	T	0.79653	-1.29	3.37	3.37	0.38596	.	0.735154	0.10906	U	0.621094	T	0.66819	0.2828	N	0.19112	0.55	0.33733	D	0.618491	P	0.44627	0.839	B	0.38562	0.276	T	0.73209	-0.4055	10	0.59425	D	0.04	.	9.0478	0.36358	0.4019:0.5981:0.0:0.0	.	286	Q7Z4P5	GDF7_HUMAN	V	286	ENSP00000272224:A286V	ENSP00000272224:A286V	A	+	2	0	GDF7	20734170	1.000000	0.71417	0.987000	0.45799	0.306000	0.27790	4.331000	0.59273	1.890000	0.54733	0.462000	0.41574	GCC		0.736	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		4	39	0	0	0	1	0	4	39				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	356	0	0	0	1	0	7	356				
MAATS1	89876	broad.mit.edu	37	3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	164						mitochondrion (GO:0005739)											GTTGTTTATGCCGTATCCAAG	0.328																																						ENST00000273390.5																			0											c.(490-492)gCc>gTc		MYCBP-associated, testis expressed 1							205.0	201.0	203.0					3																	119428733		2202	4300	6502	SO:0001583	missense	89876							g.chr3:119428733C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val					MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	p.A164V	NM_033364.3	NP_203528.2					5	568	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.491C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC		0.328	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	401	0	0	0	1	0	5	401				
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128735T>C																													17.37:g.45128735T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			8	459	0	0	0	1	0	8	459				
CNNM4	26504	broad.mit.edu	37	2	97426885	97426885	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97426885G>A	ENST00000377075.2	+	1	247	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	50					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTGGGCATGAGGCTGGCGAGC	0.701																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(148-150)aGg>aAg		cyclin M4																																				SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97426885G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.149G>A	2.37:g.97426885G>A	ENSP00000366275:p.Arg50Lys						p.R50K	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	247	+			50					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.149G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	31	5.088319	0.94100	.	.	ENSG00000158158	ENST00000377075	D	0.84370	-1.84	3.72	3.72	0.42706	.	0.000000	0.64402	U	0.000006	D	0.87958	0.6309	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	P	0.51615	0.675	D	0.89989	0.4106	10	0.72032	D	0.01	-18.3957	14.7617	0.69610	0.0:0.0:1.0:0.0	.	50	Q6P4Q7	CNNM4_HUMAN	K	50	ENSP00000366275:R50K	ENSP00000366275:R50K	R	+	2	0	CNNM4	96790612	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.077000	0.71275	2.069000	0.61940	0.462000	0.41574	AGG		0.701	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		7	152	0	0	0	1	0	7	152				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	421	0	0	0	1	0	6	421				
TACC1	6867	broad.mit.edu	37	8	38677137	38677137	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:38677137G>A	ENST00000317827.4	+	3	754	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.Q80Q|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000379931.3_Silent_p.Q125Q	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	125					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGCCACAGCAGGCCATTGACT	0.383																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(373-375)caG>caA		transforming, acidic coiled-coil containing protein 1							70.0	64.0	66.0					8																	38677137		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677137G>A	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.375G>A	8.37:g.38677137G>A						TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000317827.4_Silent_p.Q125Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Silent_p.Q80Q	p.Q125Q			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	754	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	125					B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.375G>A	CCDS6109.1																																																																																				0.383	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		10	366	0	0	0	1	0	10	366				
FMN2	56776	broad.mit.edu	37	1	240371196	240371196	+	Silent	SNP	G	G	A	rs201173147		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.741																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3082-3084)gcG>gcA		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371196G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3084G>A	1.37:g.240371196G>A							p.A1028A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3314	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1028			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3084G>A	CCDS31069.2																																																																																				0.741	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	127	0	0	0	1	0	4	127				
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147.0	146.0	146.0					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	712	0	0	0	1	0	6	712				
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(283-285)cAg>cGg		family with sequence similarity 155, member A							8.0	11.0	10.0					13																	108518661		1836	3781	5617	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518661T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.284A>G	13.37:g.108518661T>C	ENSP00000365080:p.Gln95Arg						p.Q95R	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	422	-			95			Poly-Gln.		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.284A>G	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	T	0.110	-1.140286	0.01728	.	.	ENSG00000204442	ENST00000375915	T	0.57436	0.4	5.23	3.12	0.35913	Armadillo-like helical (1);	0.660669	0.12437	N	0.469027	T	0.30417	0.0764	N	0.25332	0.735	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.07030	T	0.85	.	3.3913	0.07290	0.0:0.517:0.2156:0.2674	.	95	B1AL88	F155A_HUMAN	R	95	ENSP00000365080:Q95R	ENSP00000365080:Q95R	Q	-	2	0	FAM155A	107316662	0.206000	0.23470	1.000000	0.80357	0.982000	0.71751	0.127000	0.15790	1.195000	0.43115	-0.181000	0.13052	CAG		0.731	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		5	110	0	0	0	1	0	5	110				
DET1	55070	broad.mit.edu	37	15	89074164	89074164	+	Missense_Mutation	SNP	C	C	T	rs138430376		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:89074164C>T	ENST00000268148.8	-	2	918	c.773G>A	c.(772-774)cGc>cAc	p.R258H	DET1_ENST00000558413.1_3'UTR|DET1_ENST00000564406.1_Missense_Mutation_p.R269H|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R269H	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	258						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATAGCAAAAGCGGCCAATGGT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21511	0.001		0.0	False		,,,				2504	0.0					ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(805-807)cGc>cAc		de-etiolated homolog 1 (Arabidopsis)							60.0	60.0	60.0					15																	89074164		2035	4186	6221	SO:0001583	missense	55070					nucleus		g.chr15:89074164C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.773G>A	15.37:g.89074164C>T	ENSP00000268148:p.Arg258His					DET1_ENST00000444300.1_Missense_Mutation_p.R269H|DET1_ENST00000558413.1_3'UTR|DET1_ENST00000268148.8_Missense_Mutation_p.R258H	p.R269H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	966	-	Lung NSC(78;0.105)|all_lung(78;0.182)		258					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.806G>A	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.0	4.364477	0.82463	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80455	-0.1375	9	0.49607	T	0.09	-36.1175	14.418	0.67163	0.0:0.9302:0.0:0.0698	.	258;269	Q7L5Y6;B3KNN6	DET1_HUMAN;.	H	269;258	.	ENSP00000268148:R258H	R	-	2	0	DET1	86875168	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.213000	0.77950	1.620000	0.50308	0.655000	0.94253	CGC		0.507	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		29	249	0	0	0	1	0	29	249				
ARHGEF18	23370	broad.mit.edu	37	19	7523499	7523499	+	Silent	SNP	G	G	A	rs368721501		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:7523499G>A	ENST00000359920.6	+	9	1972	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	ARHGEF18_ENST00000319670.9_Silent_p.P415P|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R531Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	573	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TGCAAGGGCCGGAGATGTATG	0.562																																						ENST00000593531.1																			0											c.(1591-1593)cGg>cAg				G	,	1,4405	2.1+/-5.4	0,1,2202	104.0	91.0	96.0		1719,1245	-10.0	0.1	19		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGEF18	NM_001130955.1,NM_015318.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	573/1174,415/1016	7523499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7523499G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1719G>A	19.37:g.7523499G>A						ARHGEF18_ENST00000319670.9_Silent_p.P415P|ARHGEF18_ENST00000359920.6_Silent_p.P573P	p.R531Q							12	1592	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1592G>A	CCDS45946.1																																																																																				0.562	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		4	258	0	0	0	1	0	4	258				
NLRP8	126205	broad.mit.edu	37	19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A	rs372844411		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(643-645)Gga>Aga		NLR family, pyrin domain containing 8		G	ARG/GLY	0,4406		0,0,2203	86.0	70.0	75.0		643	0.9	0.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/1049	56466067	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466067G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.643G>A	19.37:g.56466067G>A	ENSP00000291971:p.Gly215Arg					NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	714	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	215			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.643G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275207	0.40194	0.0	1.16E-4	ENSG00000179709	ENST00000291971	D	0.90133	-2.62	2.04	0.899	0.19271	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.87971	2.92	0.19775	N	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	9	0.87932	D	0	.	5.4852	0.16745	0.0:0.0:0.6708:0.3292	.	215;215	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	215	ENSP00000291971:G215R	ENSP00000291971:G215R	G	+	1	0	NLRP8	61157879	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	4.154000	0.58125	0.368000	0.24481	0.514000	0.50259	GGA		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		11	294	0	0	0	1	0	11	294				
UPF3A	65110	broad.mit.edu	37	13	115070324	115070324	+	Missense_Mutation	SNP	G	G	A	rs200586196		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:115070324G>A	ENST00000375299.3	+	10	1419	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	455					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		AGAGTGTGGCGGAAACAGGAG	0.592																																						ENST00000375299.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1363-1365)Gga>Aga		UPF3 regulator of nonsense transcripts homolog A (yeast)							56.0	57.0	56.0					13																	115070324		2203	4300	6503	SO:0001583	missense	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115070324G>A	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1363G>A	13.37:g.115070324G>A	ENSP00000364448:p.Gly455Arg					UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R|UPF3A_ENST00000475218.2_3'UTR	p.G455R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	10	1419	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	455					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	c.1363G>A	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599164	0.46318	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.29142	1.58;1.58	3.47	1.62	0.23740	.	2.085870	0.03163	N	0.169610	T	0.44244	0.1284	L	0.50333	1.59	0.09310	N	1	B;D	0.71674	0.013;0.998	B;P	0.57371	0.007;0.819	T	0.14008	-1.0488	9	.	.	.	.	6.8385	0.23949	0.0989:0.1768:0.7243:0.0	.	422;455	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	R	455;422;187	ENSP00000364448:G455R;ENSP00000329592:G422R	.	G	+	1	0	UPF3A	114088426	0.012000	0.17670	0.001000	0.08648	0.006000	0.05464	1.080000	0.30779	0.239000	0.21243	0.563000	0.77884	GGA		0.592	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			4	284	0	0	0	1	0	4	284				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		10	910	0	0	0	1	0	10	910				
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165.0	180.0	175.0					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		7	949	0	0	0	1	0	7	949				
PLXNA1	5361	broad.mit.edu	37	3	126732924	126732924	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:126732924G>A	ENST00000393409.2	+	10	2375	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	792					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGTGGAACGGCAACTTTGTC	0.632																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2374-2376)gGc>gAc		plexin A1							147.0	142.0	144.0					3																	126732924		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126732924G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2375G>A	3.37:g.126732924G>A	ENSP00000377061:p.Gly792Asp					PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D	p.G792D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	10	2375	+			792						Missense_Mutation	SNP	ENST00000393409.2	37	c.2375G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380294	0.82682	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.71222	-0.55;-0.55	2.87	2.87	0.33458	.	1.820450	0.02776	N	0.120250	D	0.84447	0.5474	M	0.85373	2.75	0.80722	D	1	P	0.45715	0.865	P	0.52710	0.707	T	0.76318	-0.3003	10	0.87932	D	0	.	14.5372	0.67969	0.0:0.0:1.0:0.0	.	792	Q9UIW2	PLXA1_HUMAN	D	792;769	ENSP00000377061:G792D;ENSP00000251772:G769D	ENSP00000251772:G769D	G	+	2	0	PLXNA1	128215614	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.506000	0.66993	1.912000	0.55364	0.491000	0.48974	GGC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	630	0	0	0	1	0	6	630				
CEACAM1	634	broad.mit.edu	37	19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318.0	269.0	285.0					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		7	1036	0	0	0	1	0	7	1036				
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T														0	3751	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	277	0	0	0	1	0	6	277				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	113	0	0	0	1	0	4	113				
RP11-252A24.2	0	broad.mit.edu	37	16	74372765	74372765	+	RNA	SNP	T	T	C	rs2549261	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74372765T>C	ENST00000429810.2	-	0	1431																											GAAGTCCCAGTGGGGAACCTT	0.502													.|||	41	0.0081869	0.0053	0.0029	5008	,	,		17977	0.0099		0.0139	False		,,,				2504	0.0082					ENST00000429810.2																			0																																																			0							g.chr16:74372765T>C																													16.37:g.74372765T>C														0	1431	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.502	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	158	0	0	0	1	0	5	158				
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122.0	132.0	129.0					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		9	930	0	0	0	1	0	9	930				
CGREF1	10669	broad.mit.edu	37	2	27324320	27324320	+	Intron	SNP	C	C	T	rs111421729		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27324320C>T	ENST00000260595.5	-	7	1028				CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.G260E|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						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)					TGCCTGGCCCCCAGCTTCCCC	0.692																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(778-780)gGg>gAg		cell growth regulator with EF-hand domain 1							25.0	28.0	27.0					2																	27324320		1717	3379	5096	SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324320C>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.736-8G>A	2.37:g.27324320C>T						CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E	p.G260E	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1047	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.779G>A		.	.	.	.	.	.	.	.	.	.	c	11.11	1.543013	0.27563	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694	T;T;T;T	0.78364	-1.09;-1.09;-1.09;-1.17	3.59	1.7	0.24286	.	.	.	.	.	T	0.74283	0.3696	.	.	.	0.09310	N	0.999999	D;D	0.54047	0.964;0.964	P;B	0.46585	0.521;0.443	T	0.64037	-0.6501	8	0.87932	D	0	-13.6597	7.6551	0.28371	0.1863:0.6333:0.1804:0.0	.	382;260	B5MCC9;Q99674	.;CGRE1_HUMAN	E	260;260;243;260;382	ENSP00000385452:G260E;ENSP00000386113:G260E;ENSP00000324025:G260E;ENSP00000385574:G382E	ENSP00000324025:G260E	G	-	2	0	CGREF1	27177824	0.004000	0.15560	0.031000	0.17742	0.023000	0.10783	0.375000	0.20518	0.218000	0.20820	-0.306000	0.09157	GGG		0.692	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		5	434	0	0	0	1	0	5	434				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			5	382	0	0	0	1	0	5	382				
SCRIB	23513	broad.mit.edu	37	8	144895217	144895217	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:144895217G>A	ENST00000320476.3	-	7	631	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SCRIB_ENST00000377533.3_Silent_p.L128L|SCRIB_ENST00000356994.2_Silent_p.L209L|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	209	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTGCTGACAGCTGGTTCCGG	0.622																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(625-627)Ctg>Ttg		scribbled planar cell polarity protein							14.0	17.0	16.0					8																	144895217		2182	4290	6472	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895217G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.625C>T	8.37:g.144895217G>A						SCRIB_ENST00000320476.3_Silent_p.L209L|SCRIB_ENST00000377533.3_Silent_p.L128L	p.L209L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		7	631	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		209			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.625C>T	CCDS6411.1																																																																																				0.622	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	22	0	0	0	1	0	3	22				
ABCA7	10347	broad.mit.edu	37	19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	484					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCGCAGGTTTTGGGACCCTGG	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1450-1452)Tgg>Ggg		ATP-binding cassette, sub-family A (ABC1), member 7							66.0	73.0	71.0					19																	1046233		2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046233T>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1450T>G	19.37:g.1046233T>G	ENSP00000263094:p.Trp484Gly					ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G	p.W484G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_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)	13	1681	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	484					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1450T>G	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.414745	0.62511	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.94828	-3.53;-3.53	4.95	4.95	0.65309	.	.	.	.	.	D	0.96787	0.8951	M	0.79123	2.44	0.46356	D	0.999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.97146	0.9828	9	0.72032	D	0.01	.	12.5427	0.56182	0.0:0.0:0.0:1.0	.	346;484	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	G	484	ENSP00000263094:W484G;ENSP00000414062:W484G	ENSP00000263094:W484G	W	+	1	0	ABCA7	997233	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.869000	0.87170	1.858000	0.53909	0.454000	0.30748	TGG		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		5	701	0	0	0	1	0	5	701				
GALNT10	55568	broad.mit.edu	37	5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(757-759)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							180.0	154.0	163.0					5																	153760011		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760011G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.758G>A	5.37:g.153760011G>A	ENSP00000297107:p.Arg253His					GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR	p.R253H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	895	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	253			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.758G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	583	0	0	0	1	0	5	583				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	287	0	0	0	1	0	5	287				
TTN	7273	broad.mit.edu	37	2	179398331	179398331	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:179398331G>T	ENST00000591111.1	-	308	98312	c.98088C>A	c.(98086-98088)aaC>aaA	p.N32696K	TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N34337K|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32696	Ig-like 144.				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)			CACCATATTTGTTCCTTGCCA	0.413																																						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.(103009-103011)aaC>aaA		titin							152.0	135.0	141.0					2																	179398331		1990	4187	6177	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398331G>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.98088C>A	2.37:g.179398331G>T	ENSP00000465570:p.Asn32696Lys					TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N32696K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA	p.N34337K	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)		358	103235	-			32696			Ig-like 152.		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.103011C>A		.	.	.	.	.	.	.	.	.	.	G	21.8	4.196169	0.78902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91888	0.7432	H	0.99074	4.42	0.50813	D	0.999894	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.94384	0.7607	9	0.87932	D	0	.	13.58	0.61896	0.0803:0.0:0.9197:0.0	.	25272;25397;25464;32696	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31769;25272;25464;25397;25269	ENSP00000343764:N31769K;ENSP00000434586:N25272K;ENSP00000340554:N25464K;ENSP00000352154:N25397K	ENSP00000340554:N25464K	N	-	3	2	TTN	179106577	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.905000	0.63286	2.712000	0.92718	0.561000	0.74099	AAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	245	1	0	3.09899e-07	1	3.17744e-07	8	245				
NSRP1	84081	broad.mit.edu	37	17	28511942	28511942	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:28511942G>A	ENST00000247026.5	+	7	990	c.927G>A	c.(925-927)acG>acA	p.T309T	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	309	His-rich.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GATCACGAACGTCGAGAGGAC	0.493																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(925-927)acG>acA		nuclear speckle splicing regulatory protein 1							76.0	70.0	72.0					17																	28511942		2203	4300	6503	SO:0001819	synonymous_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28511942G>A	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.927G>A	17.37:g.28511942G>A						NSRP1_ENST00000540900.3_3'UTR	p.T309T	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	990	+			309			His-rich.		Q6FI71	Silent	SNP	ENST00000247026.5	37	c.927G>A	CCDS11255.1																																																																																				0.493	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		12	205	0	0	0	1	0	12	205				
CELSR2	1952	broad.mit.edu	37	1	109808777	109808777	+	Missense_Mutation	SNP	C	C	T	rs375830885		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:109808777C>T	ENST00000271332.3	+	15	6023	c.5962C>T	c.(5962-5964)Cgt>Tgt	p.R1988C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1988					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGGTGGCCCCGTACCCGCTT	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5962-5964)Cgt>Tgt		cadherin, EGF LAG seven-pass G-type receptor 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	67.0	71.0		5962	4.6	1.0	1		71	0,8600		0,0,4300	no	missense	CELSR2	NM_001408.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1988/2924	109808777	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109808777C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5962C>T	1.37:g.109808777C>T	ENSP00000271332:p.Arg1988Cys						p.R1988C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	15	6023	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1988					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5962C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182257	0.78677	2.27E-4	0.0	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.6	4.6	0.57074	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	D	0.82309	0.5009	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.67382	0.951	D	0.85520	0.1203	9	0.87932	D	0	.	17.6074	0.88042	0.0:1.0:0.0:0.0	.	1988	Q9HCU4	CELR2_HUMAN	C	1988	ENSP00000271332:R1988C	ENSP00000271332:R1988C	R	+	1	0	CELSR2	109610300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.958000	0.70330	2.387000	0.81309	0.462000	0.41574	CGT		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	324	0	0	0	1	0	15	324				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	266	1	0	0.0381472	1	0.0383842	7	266				
ZNF513	130557	broad.mit.edu	37	2	27602967	27602967	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27602967G>T	ENST00000323703.6	-	2	402	c.204C>A	c.(202-204)gaC>gaA	p.D68E	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	68	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCCGAGTCTCTCTCGA	0.557																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(202-204)gaC>gaA		zinc finger protein 513							134.0	136.0	135.0					2																	27602967		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27602967G>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.204C>A	2.37:g.27602967G>T	ENSP00000318373:p.Asp68Glu					ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E	p.D68E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			2	402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		68			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.204C>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969320	0.53614	.	.	ENSG00000163795	ENST00000323703;ENST00000407879;ENST00000436006	T;T;T	0.66815	3.17;2.98;-0.23	4.29	4.29	0.51040	.	0.000000	0.49916	D	0.000123	T	0.48352	0.1495	N	0.19112	0.55	0.29729	N	0.838021	P	0.40476	0.718	B	0.42343	0.384	T	0.48514	-0.9029	10	0.02654	T	1	-12.4003	12.1265	0.53920	0.0:0.0:1.0:0.0	.	68	Q8N8E2	ZN513_HUMAN	E	68;6;6	ENSP00000318373:D68E;ENSP00000384874:D6E;ENSP00000394226:D6E	ENSP00000318373:D68E	D	-	3	2	ZNF513	27456471	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.816000	0.48026	2.233000	0.73108	0.555000	0.69702	GAC		0.557	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		34	888	1	0	3.90053e-15	1	4.07668e-15	34	888				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	103	0	0	0	1	0	4	103				
HK1	3098	broad.mit.edu	37	10	71119706	71119706	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:71119706C>T	ENST00000359426.6	+	3	384	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000448642.2_Missense_Mutation_p.R129W|HK1_ENST00000404387.2_Missense_Mutation_p.R98W	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	94	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCGAATTCTGCGGGTGCAAGT	0.478																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(385-387)Cgg>Tgg		hexokinase 1							150.0	138.0	142.0					10																	71119706		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71119706C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.280C>T	10.37:g.71119706C>T	ENSP00000352398:p.Arg94Trp					HK1_ENST00000404387.2_Missense_Mutation_p.R98W|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000359426.6_Missense_Mutation_p.R94W|HK1_ENST00000494253.1_3'UTR	p.R129W			P19367	HXK1_HUMAN			8	774	+			94			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.385C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995975	0.54147	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.51	3.59	0.41128	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.67625	2.065	0.80722	D	1	B;B;B;B;B	0.19817	0.006;0.016;0.029;0.039;0.003	B;B;B;B;B	0.15484	0.006;0.013;0.013;0.013;0.002	T	0.41088	-0.9528	10	0.25751	T	0.34	-2.9677	13.4228	0.61007	0.434:0.566:0.0:0.0	.	94;93;129;98;82	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	W	98;82;129;82;98;93;93;94;94	ENSP00000409761:R98W;ENSP00000353433:R82W;ENSP00000402103:R129W;ENSP00000398316:R82W;ENSP00000384774:R98W;ENSP00000415949:R93W;ENSP00000298649:R93W;ENSP00000352398:R94W	ENSP00000298649:R93W	R	+	1	2	HK1	70789712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	0.621000	0.30232	0.561000	0.74099	CGG		0.478	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		6	437	0	0	0	1	0	6	437				
HIST1H2BB	3018	broad.mit.edu	37	6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547																																						ENST00000357905.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(160-162)gGc>gAc		histone cluster 1, H2bb							194.0	188.0	190.0					6																	26043725		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043725C>T	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.161G>A	6.37:g.26043725C>T	ENSP00000350580:p.Gly54Asp						p.G54D	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN			1	160	-			54					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.161G>A	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578593	0.28180	.	.	ENSG00000196226	ENST00000357905	T	0.69435	-0.4	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.82770	0.5109	M	0.93150	3.385	0.58432	D	0.99999	P	0.42161	0.772	P	0.56700	0.804	D	0.86555	0.1837	10	0.87932	D	0	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	54	P33778	H2B1B_HUMAN	D	54	ENSP00000350580:G54D	ENSP00000350580:G54D	G	-	2	0	HIST1H2BB	26151704	1.000000	0.71417	0.578000	0.28575	0.003000	0.03518	7.779000	0.85648	2.498000	0.84270	0.467000	0.42956	GGC		0.547	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		6	898	0	0	0	1	0	6	898				
RBP1	5947	broad.mit.edu	37	3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A	rs565159052		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:139257784G>A	ENST00000483943.2	-	2	277	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000381790.3_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	31					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(277-279)Cgc>Tgc		retinol binding protein 1, cellular	Vitamin A(DB00162)						162.0	142.0	148.0					3																	139257784		2203	4300	6503	SO:0001583	missense	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139257784G>A		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.277C>T	3.37:g.139257784G>A	ENSP00000424813:p.Arg93Cys					RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000515247.1_RNA	p.R93C	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN			2	277	-			31					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	c.277C>T	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975146	0.74360	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.09630	2.96;2.96;2.96	5.15	3.16	0.36331	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.135740	0.44483	D	0.000456	T	0.36936	0.0985	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.22452	-1.0216	10	0.87932	D	0	.	5.8333	0.18593	0.1029:0.0:0.5208:0.3763	.	93;93;31	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	C	93	ENSP00000232219:R93C;ENSP00000424813:R93C;ENSP00000429166:R93C	ENSP00000232219:R93C	R	-	1	0	RBP1	140740474	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.512000	0.60469	1.163000	0.42636	0.455000	0.32223	CGC		0.552	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		5	459	0	0	0	1	0	5	459				
TIGD4	201798	broad.mit.edu	37	4	153691501	153691501	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:153691501C>T	ENST00000304337.2	-	2	1476	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	219	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATGTTTGTGCCAACCACCAG	0.383																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(655-657)gGc>gAc		tigger transposable element derived 4							130.0	126.0	127.0					4																	153691501		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691501C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.656G>A	4.37:g.153691501C>T	ENSP00000355162:p.Gly219Asp						p.G219D	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1476	-	all_hematologic(180;0.093)		219			DDE.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.656G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700135	0.48307	.	.	ENSG00000169989	ENST00000304337	T	0.45668	0.89	5.7	5.7	0.88788	.	0.000000	0.45606	D	0.000356	T	0.54663	0.1872	L	0.42245	1.32	0.39632	D	0.970195	D	0.71674	0.998	D	0.63488	0.915	T	0.54098	-0.8344	10	0.54805	T	0.06	-14.807	15.3392	0.74282	0.0:0.8607:0.1393:0.0	.	219	Q8IY51	TIGD4_HUMAN	D	219	ENSP00000355162:G219D	ENSP00000355162:G219D	G	-	2	0	TIGD4	153910951	0.913000	0.31002	0.982000	0.44146	0.990000	0.78478	3.804000	0.55568	2.861000	0.98227	0.655000	0.94253	GGC		0.383	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		5	631	0	0	0	1	0	5	631				
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		4	261	0	0	0	1	0	4	261				
TTC16	158248	broad.mit.edu	37	9	130493021	130493021	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130493021G>A	ENST00000373289.3	+	14	2039	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	TOR2A_ENST00000472723.1_5'Flank|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	653										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGTTGAAGACGCAATCCTCGG	0.567																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1957-1959)acG>acA		tetratricopeptide repeat domain 16							79.0	72.0	74.0					9																	130493021		2203	4300	6503	SO:0001819	synonymous_variant	158248						binding	g.chr9:130493021G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1959G>A	9.37:g.130493021G>A						TTC16_ENST00000489226.1_3'UTR	p.T653T	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2039	+			653					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.1959G>A	CCDS6875.1																																																																																				0.567	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		4	192	0	0	0	1	0	4	192				
SMAD4	4089	broad.mit.edu	37	18	48593400	48593400	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:48593400G>A	ENST00000342988.3	+	10	1689	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D|SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	384	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGCACATAGGCAAAGGTGTG	0.348																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1150-1152)gGc>gAc		SMAD family member 4							189.0	158.0	168.0					18																	48593400		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48593400G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1151G>A	18.37:g.48593400G>A	ENSP00000341551:p.Gly384Asp					SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D|SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D	p.G384D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	10	1689	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	384			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1151G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969730	0.92855	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98849	-5.18;-5.18	5.5	5.5	0.81552	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046327	0.85682	D	0.000000	D	0.99384	0.9783	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98789	1.0735	10	0.87932	D	0	.	18.1843	0.89788	0.0:0.0:1.0:0.0	.	384	Q13485	SMAD4_HUMAN	D	384	ENSP00000341551:G384D;ENSP00000381452:G384D	ENSP00000341551:G384D	G	+	2	0	SMAD4	46847398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.581000	0.87130	0.563000	0.77884	GGC		0.348	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		22	353	0	0	0	1	0	22	353				
LRRN1	57633	broad.mit.edu	37	3	3888153	3888153	+	Missense_Mutation	SNP	G	G	A	rs199850493	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:3888153G>A	ENST00000319331.3	+	2	2589	c.1828G>A	c.(1828-1830)Gta>Ata	p.V610I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	610	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGTCATGCGTAAATGTCAC	0.458													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22138	0.0		0.0	False		,,,				2504	0.0					ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1828-1830)Gta>Ata		leucine rich repeat neuronal 1							162.0	155.0	157.0					3																	3888153		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888153G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1828G>A	3.37:g.3888153G>A	ENSP00000314901:p.Val610Ile					SUMF1_ENST00000534863.1_Intron	p.V610I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2589	+			610			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1828G>A	CCDS33685.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.266	0.812185	0.16537	.	.	ENSG00000175928	ENST00000319331	T	0.45276	0.9	5.5	4.63	0.57726	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.056986	0.64402	D	0.000001	T	0.23451	0.0567	N	0.13168	0.305	0.45161	D	0.998179	B	0.23990	0.095	B	0.13407	0.009	T	0.06770	-1.0808	10	0.18276	T	0.48	.	10.8023	0.46495	0.145:0.0:0.855:0.0	.	610	Q6UXK5	LRRN1_HUMAN	I	610	ENSP00000314901:V610I	ENSP00000314901:V610I	V	+	1	0	LRRN1	3863153	1.000000	0.71417	0.372000	0.25991	0.961000	0.63080	7.558000	0.82253	1.461000	0.47929	-0.145000	0.13849	GTA		0.458	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		5	495	0	0	0	1	0	5	495				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	114	0	0	0	1	0	5	114				
WFIKKN2	124857	broad.mit.edu	37	17	48917415	48917415	+	Missense_Mutation	SNP	C	C	T	rs200820844		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:48917415C>T	ENST00000311378.4	+	2	1294	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	256	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGTGGTCATGCGGCCCAACCA	0.602																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(766-768)Cgg>Tgg		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			TRP/ARG	0,4406		0,0,2203	117.0	106.0	110.0		766	-7.0	0.9	17		110	1,8599		0,1,4299	no	missense	WFIKKN2	NM_175575.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	256/577	48917415	1,13005	2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917415C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.766C>T	17.37:g.48917415C>T	ENSP00000311184:p.Arg256Trp					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W	p.R256W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1294	+			256			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.766C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350274	0.41599	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.96041	-3.89;-3.89	5.44	-7.01	0.01594	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.296278	0.33772	N	0.004575	D	0.90542	0.7036	M	0.72479	2.2	0.41747	D	0.989648	B	0.21147	0.052	B	0.14578	0.011	T	0.69250	-0.5194	10	0.59425	D	0.04	.	3.756	0.08585	0.5443:0.1895:0.0762:0.19	.	256	Q8TEU8	WFKN2_HUMAN	W	163;256	ENSP00000405889:R163W;ENSP00000311184:R256W	ENSP00000311184:R256W	R	+	1	2	WFIKKN2	46272414	0.810000	0.29049	0.874000	0.34290	0.986000	0.74619	0.008000	0.13197	-1.163000	0.02793	-0.142000	0.14014	CGG		0.602	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		5	283	0	0	0	1	0	5	283				
PKD1	5310	broad.mit.edu	37	16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:2160250C>T	ENST00000262304.4	-	15	5126	c.4918G>A	c.(4918-4920)Ggt>Agt	p.G1640S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4918-4920)Ggt>Agt		polycystic kidney disease 1 (autosomal dominant)							20.0	20.0	20.0					16																	2160250		2171	4272	6443	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160250C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4918G>A	16.37:g.2160250C>T	ENSP00000262304:p.Gly1640Ser					PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	p.G1640S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5126	-			1640			PKD 12.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4918G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	3.215	-0.160795	0.06502	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.57907	0.37;0.37	5.3	4.35	0.52113	Polycystin cation channel (1);PKD domain (1);	0.226336	0.45606	D	0.000350	T	0.35189	0.0923	L	0.44542	1.39	0.09310	N	1	P;P	0.46020	0.871;0.683	B;B	0.32805	0.144;0.153	T	0.17531	-1.0366	10	0.22706	T	0.39	.	8.5645	0.33531	0.1357:0.7246:0.0:0.1397	.	1640;1640	P98161-3;P98161	.;PKD1_HUMAN	S	1640	ENSP00000262304:G1640S;ENSP00000399501:G1640S	ENSP00000262304:G1640S	G	-	1	0	PKD1	2100251	0.001000	0.12720	0.018000	0.16275	0.014000	0.08584	0.784000	0.26816	0.642000	0.30620	-1.611000	0.00801	GGT		0.617	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			21	174	0	0	0	1	0	21	174				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		6	812	0	0	0	1	0	6	812				
CPAMD8	27151	broad.mit.edu	37	19	17038840	17038840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:17038840G>A	ENST00000443236.1	-	25	3521	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGTGGCTCGCTCAGACCCA	0.617																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3490-3492)Cga>Tga		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							42.0	51.0	48.0					19																	17038840		2036	4175	6211	SO:0001587	stop_gained	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17038840G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3490C>T	19.37:g.17038840G>A	ENSP00000402505:p.Arg1164*						p.R1164*	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			25	3521	-			1117					Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	ENST00000443236.1	37	c.3490C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	38	6.940580	0.97952	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.02	1.9	0.25705	.	0.311950	0.27861	U	0.017554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8107	0.29230	0.0:0.0:0.3646:0.6354	.	.	.	.	X	1164	.	ENSP00000291440:R1164X	R	-	1	2	CPAMD8	16899840	1.000000	0.71417	0.658000	0.29665	0.098000	0.18820	5.239000	0.65371	1.237000	0.43756	0.655000	0.94253	CGA		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		8	291	0	0	0	1	0	8	291				
ZNF584	201514	broad.mit.edu	37	19	58928643	58928643	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:58928643G>A	ENST00000306910.4	+	4	1281	c.758G>A	c.(757-759)cGc>cAc	p.R253H	ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|CTD-2619J13.16_ENST00000596296.1_lincRNA	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	253					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(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACCTTCAACCGCAAAGACGCA	0.463																																						ENST00000306910.4																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(757-759)cGc>cAc		zinc finger protein 584							90.0	78.0	82.0					19																	58928643		2203	4300	6503	SO:0001583	missense	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58928643G>A	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.758G>A	19.37:g.58928643G>A	ENSP00000306756:p.Arg253His					ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|ZNF584_ENST00000599238.1_3'UTR	p.R253H	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	4	1281	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	253					A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	c.758G>A	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442947	0.25987	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.36340	1.26	3.78	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26991	0.0661	L	0.50333	1.59	0.09310	N	1	B	0.25955	0.138	B	0.22880	0.042	T	0.27157	-1.0082	9	0.13108	T	0.6	.	7.1665	0.25693	0.227:0.0:0.773:0.0	.	253	Q8IVC4	ZN584_HUMAN	H	253;112	ENSP00000306756:R253H	ENSP00000306756:R253H	R	+	2	0	ZNF584	63620455	0.000000	0.05858	1.000000	0.80357	0.863000	0.49368	-1.284000	0.02793	0.389000	0.25086	0.555000	0.69702	CGC		0.463	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		5	277	0	0	0	1	0	5	277				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		9	195	0	0	0	1	0	9	195				
PKP1	5317	broad.mit.edu	37	1	201252975	201252975	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:201252975G>A	ENST00000352845.3	+	1	145	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PKP1_ENST00000263946.3_Missense_Mutation_p.V49I|PKP1_ENST00000367324.3_Missense_Mutation_p.V49I			Q13835	PKP1_HUMAN	plakophilin 1	49					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GATGATGACCGTCAAGCGGCA	0.612																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(145-147)Gtc>Atc		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							117.0	92.0	100.0					1																	201252975		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201252975G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.145G>A	1.37:g.201252975G>A	ENSP00000295597:p.Val49Ile					PKP1_ENST00000367324.3_Missense_Mutation_p.V49I|PKP1_ENST00000352845.3_Missense_Mutation_p.V49I	p.V49I	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			1	396	+			49					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.145G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274211	0.80580	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.37915	1.17;1.17;1.17	4.93	4.93	0.64822	.	0.260506	0.26153	N	0.026030	T	0.43853	0.1266	N	0.17082	0.46	0.41428	D	0.987843	D;D	0.71674	0.998;0.961	D;B	0.71184	0.972;0.245	T	0.45687	-0.9244	10	0.45353	T	0.12	-19.2651	16.3155	0.82918	0.0:0.0:1.0:0.0	.	49;49	Q13835-2;Q13835	.;PKP1_HUMAN	I	49	ENSP00000356293:V49I;ENSP00000263946:V49I;ENSP00000295597:V49I	ENSP00000263946:V49I	V	+	1	0	PKP1	199519598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	2.278000	0.76064	0.655000	0.94253	GTC		0.612	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		8	210	0	0	0	1	0	8	210				
CCDC74A	90557	broad.mit.edu	37	2	132290319	132290319	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:132290319G>A	ENST00000295171.6	+	5	979	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	281										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCATCCGCGAGCTGTGGAA	0.677																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(841-843)Gag>Aag		coiled-coil domain containing 74A							51.0	51.0	51.0					2																	132290319		2202	4276	6478	SO:0001583	missense	90557							g.chr2:132290319G>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.841G>A	2.37:g.132290319G>A	ENSP00000295171:p.Glu281Lys					CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	p.E281K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	979	+			281					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.841G>A	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.466572	0.26335	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.30448	1.53;1.53	2.66	1.74	0.24563	.	0.228610	0.22012	U	0.065844	T	0.13329	0.0323	N	0.08118	0	0.80722	D	1	B;B	0.31611	0.221;0.331	B;B	0.25614	0.026;0.062	T	0.09037	-1.0693	10	0.66056	D	0.02	.	7.4179	0.27055	0.0:0.7175:0.2825:0.0	.	215;281	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	K	281;215	ENSP00000295171:E281K;ENSP00000387009:E215K	ENSP00000295171:E281K	E	+	1	0	CCDC74A	132006789	0.981000	0.34729	0.988000	0.46212	0.372000	0.29890	2.366000	0.44204	0.211000	0.20683	0.194000	0.17425	GAG		0.677	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		10	342	0	0	0	1	0	10	342				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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 involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	220	0	0	0	1	0	6	220				
FLG	2312	broad.mit.edu	37	1	152282617	152282617	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGACCCCGCTGATTCTCC	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4744-4746)gCg>gTg		filaggrin							160.0	170.0	167.0					1																	152282617		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282617G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4745C>T	1.37:g.152282617G>A	ENSP00000357789:p.Ala1582Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1582V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4780	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1582			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4745C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176695	0.21704	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.74	-4.7	0.03288	.	.	.	.	.	T	0.00412	0.0013	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46938	-0.9155	9	0.28530	T	0.3	.	0.7528	0.00993	0.3328:0.1614:0.3415:0.1644	.	1582	P20930	FILA_HUMAN	V	1582	ENSP00000357789:A1582V	ENSP00000357789:A1582V	A	-	2	0	FLG	150549241	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.013000	0.00160	-1.202000	0.02655	-3.061000	0.00068	GCG		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	892	0	0	0	1	0	6	892				
SMEK1	55671	broad.mit.edu	37	14	91931722	91931722	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:91931722C>T	ENST00000554943.1	-	11	1817	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E555K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	568					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTAAAACTCATCTTTTAAT	0.358																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1663-1665)Gag>Aag		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							99.0	98.0	98.0					14																	91931722		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91931722C>T	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1702G>A	14.37:g.91931722C>T	ENSP00000450883:p.Glu568Lys					SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000554943.1_Missense_Mutation_p.E568K	p.E555K			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	11	2159	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	568					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1663G>A		.	.	.	.	.	.	.	.	.	.	C	17.96	3.516739	0.64634	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;D;T;D;T	0.95001	1.58;1.58;-3.58;1.58;-3.58;1.58	6.15	6.15	0.99193	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.63208	1.945	0.80722	D	1	D;D;D	0.63880	0.974;0.993;0.99	D;P;P	0.70487	0.969;0.901;0.907	D	0.95808	0.8839	10	0.48119	T	0.1	-15.5476	20.8387	0.99724	0.0:1.0:0.0:0.0	.	329;568;555	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	K	555;555;329;568;329;555	ENSP00000450864:E555K;ENSP00000337125:E555K;ENSP00000392704:E329K;ENSP00000450883:E568K;ENSP00000450891:E329K;ENSP00000452596:E555K	ENSP00000337125:E555K	E	-	1	0	SMEK1	91001475	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.811000	0.86092	2.932000	0.99384	0.643000	0.83706	GAG		0.358	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		10	292	0	0	0	1	0	10	292				
NRD1	4898	broad.mit.edu	37	1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	667					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCCTTCAACGTAAAGTCCGT	0.373																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2206-2208)aCg>aTg		nardilysin (N-arginine dibasic convertase)							111.0	111.0	111.0					1																	52272573		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52272573G>A	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2207C>T	1.37:g.52272573G>A	ENSP00000346890:p.Thr736Met					NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR	p.T736M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			20	2396	-			667					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2207C>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463744	0.12402	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.1	2.01	0.26516	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.222182	0.47093	N	0.000260	T	0.24122	0.0584	M	0.74647	2.275	0.44702	D	0.997694	P;B;B	0.35780	0.52;0.198;0.198	B;B;B	0.26614	0.071;0.032;0.032	T	0.03795	-1.1003	10	0.41790	T	0.15	-0.2231	10.2689	0.43470	0.2059:0.0:0.7941:0.0	.	668;667;736	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	668;736;604;668;536	ENSP00000262679:T668M;ENSP00000346890:T736M;ENSP00000444416:T604M;ENSP00000442262:T536M	ENSP00000262679:T668M	T	-	2	0	NRD1	52045161	0.991000	0.36638	0.275000	0.24674	0.087000	0.18053	3.724000	0.54962	0.106000	0.17784	-0.237000	0.12165	ACG		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		6	500	0	0	0	1	0	6	500				
FAM102A	399665	broad.mit.edu	37	9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(331-333)gCg>gTg		family with sequence similarity 102, member A							103.0	90.0	94.0					9																	130712784		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130712784G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.332C>T	9.37:g.130712784G>A	ENSP00000362187:p.Ala111Val					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	p.A111V	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			4	707	-			111					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.332C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943040	0.73672	.	.	ENSG00000167106	ENST00000373095	T	0.44881	0.91	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71974	-0.4430	10	0.19147	T	0.46	-8.445	17.1174	0.86692	0.0:0.0:1.0:0.0	.	111	Q5T9C2	F102A_HUMAN	V	111	ENSP00000362187:A111V	ENSP00000362187:A111V	A	-	2	0	FAM102A	129752605	1.000000	0.71417	0.187000	0.23214	0.100000	0.18952	9.758000	0.98927	2.362000	0.80069	0.462000	0.41574	GCG		0.632	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			7	315	0	0	0	1	0	7	315				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		16	333	0	0	0	1	0	16	333				
KIF21A	55605	broad.mit.edu	37	12	39735383	39735383	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:39735383C>T	ENST00000361418.5	-	14	1860	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1843-1845)gaG>gaA		kinesin family member 21A							85.0	82.0	83.0					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1845G>A	12.37:g.39735383C>T						KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		4	153	0	0	0	1	0	4	153				
THOC1	9984	broad.mit.edu	37	18	264052	264052	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:264052G>A	ENST00000261600.6	-	4	237	c.230C>T	c.(229-231)tCt>tTt	p.S77F	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	77					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AATAGCAAGAGAAATAATAGC	0.343																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(229-231)tCt>tTt		THO complex 1							89.0	76.0	80.0					18																	264052		1841	4085	5926	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:264052G>A	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.230C>T	18.37:g.264052G>A	ENSP00000261600:p.Ser77Phe					THOC1_ENST00000582313.1_5'UTR	p.S77F	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			4	237	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	77					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.230C>T	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671815	0.29693	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.17	6.17	0.99709	.	0.057850	0.64402	D	0.000001	T	0.65281	0.2676	L	0.58810	1.83	0.50313	D	0.999862	B;P	0.34864	0.418;0.473	B;B	0.36666	0.147;0.23	T	0.65894	-0.6057	9	0.87932	D	0	-13.7479	20.4898	0.99202	0.0:0.0:1.0:0.0	.	77;77	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	F	77	.	ENSP00000261600:S77F	S	-	2	0	THOC1	254052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.941000	0.99782	0.655000	0.94253	TCT		0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		4	101	0	0	0	1	0	4	101				
TMEM180	79847	broad.mit.edu	37	10	104235646	104235646	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:104235646T>C	ENST00000238936.4	+	10	1696	c.1459T>C	c.(1459-1461)Tcc>Ccc	p.S487P	TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	487						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTTCACCTGGTCCCAGTTCAC	0.627																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(1459-1461)Tcc>Ccc		transmembrane protein 180							37.0	32.0	34.0					10																	104235646		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104235646T>C	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1459T>C	10.37:g.104235646T>C	ENSP00000238936:p.Ser487Pro					TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	p.S487P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	10	1696	+		Colorectal(252;0.122)	487					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.1459T>C	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	t	17.56	3.420014	0.62622	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	3.69	0.42338	.	0.102864	0.64402	N	0.000002	T	0.69967	0.3170	M	0.80028	2.48	0.51767	D	0.999933	D	0.60160	0.987	D	0.63488	0.915	T	0.67745	-0.5591	9	0.36615	T	0.2	.	6.8488	0.24003	0.134:0.0755:0.0:0.7905	.	487	Q14CX5	TM180_HUMAN	P	216;487;216	.	ENSP00000238936:S487P	S	+	1	0	TMEM180	104225636	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.216000	0.72212	0.820000	0.34516	0.255000	0.18592	TCC		0.627	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		4	146	0	0	0	1	0	4	146				
ADAM2	2515	broad.mit.edu	37	8	39624518	39624518	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000521880.1_Silent_p.C452C|ADAM2_ENST00000379853.2_Silent_p.C326C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1354-1356)tgC>tgT		ADAM metallopeptidase domain 2							157.0	140.0	146.0					8																	39624518		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624518G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1356C>T	8.37:g.39624518G>A						ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C326C|ADAM2_ENST00000521880.1_Silent_p.C452C	p.C452C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1459	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	452			Disintegrin.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1356C>T	CCDS34884.1																																																																																				0.398	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		7	607	0	0	0	1	0	7	607				
YTHDC1	91746	broad.mit.edu	37	4	69202911	69202911	+	Silent	SNP	T	T	C	rs568654350|rs548927284	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:69202911T>C	ENST00000344157.4	-	4	1052	c.717A>G	c.(715-717)gaA>gaG	p.E239E	YTHDC1_ENST00000579690.1_Silent_p.E239E|YTHDC1_ENST00000355665.3_Silent_p.E239E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	239	Glu-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						cctcctcctcttcctcctcct	0.473																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(715-717)gaA>gaG		YTH domain containing 1							133.0	94.0	107.0					4																	69202911		2203	4300	6503	SO:0001819	synonymous_variant	91746							g.chr4:69202911T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.717A>G	4.37:g.69202911T>C						YTHDC1_ENST00000355665.3_Silent_p.E239E|YTHDC1_ENST00000579690.1_Silent_p.E239E	p.E239E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			4	1052	-			239			Glu-rich.		Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.717A>G	CCDS33992.1																																																																																				0.473	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		5	135	0	0	0	1	0	5	135				
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.P566H(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1696-1698)cCt>cAt		serine/arginine repetitive matrix 1							53.0	45.0	48.0					1																	24993374		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993374C>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1697C>A	1.37:g.24993374C>A	ENSP00000326261:p.Pro566His					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H	p.P566H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2012	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	566			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1697C>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173271	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.56776	0.44;0.65;0.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.70613	0.3244	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.68074	-0.5505	10	0.42905	T	0.14	-3.0627	19.3453	0.94361	0.0:1.0:0.0:0.0	.	578;566	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	566;578;575	ENSP00000326261:P566H;ENSP00000391430:P578H;ENSP00000363510:P575H	ENSP00000326261:P566H	P	+	2	0	SRRM1	24865961	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.865000	0.62998	2.654000	0.90174	0.650000	0.86243	CCT		0.542	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		4	198	1	0	0.000602214	1	0.000609742	4	198				
NOA1	84273	broad.mit.edu	37	4	57829747	57829747	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:57829747G>A	ENST00000264230.4	-	7	3203	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	656					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										AGAGGGGGCCGGACGGTCAAA	0.458																																						ENST00000264230.4																			0											c.(1966-1968)Cgg>Tgg		nitric oxide associated 1							115.0	121.0	119.0					4																	57829747		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829747G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1966C>T	4.37:g.57829747G>A	ENSP00000264230:p.Arg656Trp						p.R656W	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			7	3203	-			656					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1966C>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611783	0.87258	.	.	ENSG00000084092	ENST00000264230	T	0.59083	0.29	5.41	5.41	0.78517	.	0.066423	0.64402	D	0.000010	T	0.80717	0.4676	M	0.89287	3.02	0.32518	N	0.536693	D	0.89917	1.0	D	0.72075	0.976	D	0.85800	0.1373	10	0.87932	D	0	.	19.1586	0.93522	0.0:0.0:1.0:0.0	.	656	Q8NC60	CD014_HUMAN	W	656	ENSP00000264230:R656W	ENSP00000264230:R656W	R	-	1	2	C4orf14	57524504	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.101000	0.64566	2.681000	0.91329	0.655000	0.94253	CGG		0.458	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		5	525	0	0	0	1	0	5	525				
OR2M5	127059	broad.mit.edu	37	1	248309257	248309257	+	Nonsense_Mutation	SNP	C	C	T	rs368493003		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:248309257C>T	ENST00000366476.1	+	1	808	c.808C>T	c.(808-810)Cag>Tag	p.Q270*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCCCCTATGCAGGACAAGCT	0.512																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(808-810)Cag>Tag		olfactory receptor, family 2, subfamily M, member 5							162.0	146.0	152.0					1																	248309257		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309257C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.808C>T	1.37:g.248309257C>T	ENSP00000355432:p.Gln270*						p.Q270*	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	808	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		270						Nonsense_Mutation	SNP	ENST00000366476.1	37	c.808C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.432018	0.25813	.	.	ENSG00000162727	ENST00000366476	.	.	.	3.15	-2.55	0.06288	.	.	.	.	.	.	.	.	.	.	.	0.48135	D	0.999598	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	2.4525	0.04522	0.2978:0.3147:0.2927:0.0948	.	.	.	.	X	270	.	ENSP00000355432:Q270X	Q	+	1	0	OR2M5	246375880	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	-1.939000	0.01545	-0.351000	0.08249	-0.565000	0.04167	CAG		0.512	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		21	879	0	0	0	1	0	21	879				
RANBP2	5903	broad.mit.edu	37	2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156.0	173.0	167.0					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		9	893	0	0	0	1	0	9	893				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	1152	0	0	0	1	0	6	1152				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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.Q2741Q(3)|p.Q2742Q(1)		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)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	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.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:132547138A>G	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.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	195	0	0	0	1	0	5	195				
RP11-24M17.5	0	broad.mit.edu	37	15	76075521	76075521	+	RNA	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:76075521G>A	ENST00000395215.3	+	0	1161				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgcgaaagcaggaa	0.607																																						ENST00000395215.3																			0																																																			0							g.chr15:76075521G>A																													15.37:g.76075521G>A														0	1161	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			6	905	0	0	0	1	0	6	905				
ZNF285	26974	broad.mit.edu	37	19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	rs140033872		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(274-276)Gtg>Atg		zinc finger protein 285							89.0	89.0	89.0					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		8	571	0	0	0	1	0	8	571				
BEX4	56271	broad.mit.edu	37	X	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	rs139178618	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418																																						ENST00000372695.5																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						c.(310-312)Cgc>Tgc		brain expressed, X-linked 4							198.0	170.0	179.0					X																	102471391		2203	4300	6503	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471391C>T	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.310C>T	X.37:g.102471391C>T	ENSP00000361780:p.Arg104Cys					BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN			3	545	+			104						Missense_Mutation	SNP	ENST00000372695.5	37	c.310C>T	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778944	0.49891	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49720	0.77;0.77	3.84	2.98	0.34508	.	0.159217	0.30277	N	0.009992	T	0.43344	0.1243	M	0.76170	2.325	0.09310	N	1	B	0.26195	0.144	B	0.21151	0.033	T	0.44907	-0.9297	10	0.59425	D	0.04	.	6.479	0.22053	0.0:0.8657:0.0:0.1343	.	104	Q9NWD9	BEX4_HUMAN	C	104	ENSP00000361780:R104C;ENSP00000361776:R104C	ENSP00000361776:R104C	R	+	1	0	BEX4	102358047	0.001000	0.12720	0.001000	0.08648	0.847000	0.48162	0.082000	0.14847	0.979000	0.38497	0.594000	0.82650	CGC		0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		19	564	0	0	0	1	0	19	564				
C16orf62	57020	broad.mit.edu	37	16	19680556	19680556	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19680556C>T	ENST00000251143.5	+	27	2308	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000438132.3_Missense_Mutation_p.R855W			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	766						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGGAAGATGCGGCCATCGGA	0.418																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2563-2565)Cgg>Tgg		chromosome 16 open reading frame 62							121.0	120.0	120.0					16																	19680556		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19680556C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2296C>T	16.37:g.19680556C>T	ENSP00000251143:p.Arg766Trp					C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000251143.5_Missense_Mutation_p.R766W	p.R855W	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			27	2611	+			766					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2563C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	3.995543	0.74703	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.51	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.65113	-0.6247	9	.	.	.	-17.7679	15.8043	0.78481	0.1365:0.8635:0.0:0.0	.	762;766	F5H7K1;Q7Z3J2	.;CP062_HUMAN	W	855;762;766;673;616	ENSP00000400815:R855W;ENSP00000442468:R762W;ENSP00000251143:R766W;ENSP00000395973:R673W;ENSP00000398009:R616W	.	R	+	1	2	C16orf62	19588057	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.337000	0.59310	2.604000	0.88044	0.644000	0.83932	CGG		0.418	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		5	297	0	0	0	1	0	5	297				
TICAM1	148022	broad.mit.edu	37	19	4816396	4816396	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:4816396G>A	ENST00000248244.5	-	2	2223	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	665	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGTGAGGCCGTAGGGAAGGC	0.662																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1993-1995)aCg>aTg		toll-like receptor adaptor molecule 1							51.0	45.0	47.0					19																	4816396		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816396G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1994C>T	19.37:g.4816396G>A	ENSP00000248244:p.Thr665Met						p.T665M	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	2223	-			665			Pro-rich.|Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1994C>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273697	0.40194	.	.	ENSG00000127666	ENST00000248244	T	0.44881	0.91	4.68	-0.218	0.13142	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.18561	0.022	T	0.20907	-1.0261	9	0.66056	D	0.02	-3.7983	5.0671	0.14587	0.1798:0.0:0.4884:0.3319	.	665	Q8IUC6	TCAM1_HUMAN	M	665	ENSP00000248244:T665M	ENSP00000248244:T665M	T	-	2	0	TICAM1	4767396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.115000	0.03289	0.056000	0.16144	-0.258000	0.10820	ACG		0.662	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		5	205	0	0	0	1	0	5	205				
DPAGT1	1798	broad.mit.edu	37	11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A	rs397515327		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(340-342)gCg>gTg		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							72.0	65.0	67.0					11																	118971495		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971495G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.341C>T	11.37:g.118971495G>A	ENSP00000386597:p.Ala114Val		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR	p.A114V			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	5	1892	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	114					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.341C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692412	0.88735	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.92348	-3.02;-3.02;-3.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	L	0.32530	0.975	0.80722	D	1	P;B	0.41393	0.748;0.219	B;B	0.33890	0.172;0.09	D	0.88514	0.3091	10	0.54805	T	0.06	-32.643	18.1546	0.89687	0.0:0.0:1.0:0.0	.	7;114	E7EW40;Q9H3H5	.;GPT_HUMAN	V	114;114;7	ENSP00000386597:A114V;ENSP00000346142:A114V;ENSP00000404036:A7V	ENSP00000346142:A114V	A	-	2	0	DPAGT1	118476705	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	9.869000	0.99810	2.524000	0.85096	0.563000	0.77884	GCG		0.567	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		4	185	0	0	0	1	0	4	185				
OR10K1	391109	broad.mit.edu	37	1	158435396	158435396	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:158435396C>T	ENST00000289451.2	+	1	125	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	15						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)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCGTCGTCCTCGGCTTCTCAT	0.507																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(43-45)ctC>ctT		olfactory receptor, family 10, subfamily K, member 1							101.0	88.0	92.0					1																	158435396		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435396C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.45C>T	1.37:g.158435396C>T							p.L15L	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	125	+	all_hematologic(112;0.0378)		15					Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.45C>T	CCDS30897.1																																																																																				0.507	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			12	231	0	0	0	1	0	12	231				
KRT24	192666	broad.mit.edu	37	17	38859689	38859689	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:38859689C>A	ENST00000264651.2	-	1	313	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	86	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCCACCAAATCCTGTCCCAGA	0.582																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(256-258)gGa>gTa		keratin 24							73.0	93.0	86.0					17																	38859689		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859689C>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.257G>T	17.37:g.38859689C>A	ENSP00000264651:p.Gly86Val						p.G86V	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	313	-		Breast(137;0.00526)	86			Gly-rich.|Head.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.257G>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600770	0.46423	.	.	ENSG00000167916	ENST00000264651	D	0.90385	-2.66	5.32	4.35	0.52113	.	.	.	.	.	D	0.92322	0.7564	L	0.57536	1.79	0.53005	D	0.999968	D	0.69078	0.997	D	0.63597	0.916	D	0.89764	0.3949	9	0.13853	T	0.58	.	13.4064	0.60915	0.0:0.9241:0.0:0.0759	.	86	Q2M2I5	K1C24_HUMAN	V	86	ENSP00000264651:G86V	ENSP00000264651:G86V	G	-	2	0	KRT24	36113215	0.014000	0.17966	0.115000	0.21578	0.002000	0.02628	1.059000	0.30517	1.381000	0.46364	-0.258000	0.10820	GGA		0.582	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		17	511	1	0	1.56452e-12	1	1.6247e-12	17	511				
TPD52	7163	broad.mit.edu	37	8	80954871	80954871	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:80954871T>G	ENST00000379097.3	-	5	901	c.539A>C	c.(538-540)aAg>aCg	p.K180T	TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000379096.5_Missense_Mutation_p.K140T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	180					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GTTTTCGACCTTTTCTTCAAA	0.308																																						ENST00000379096.5																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(418-420)aAg>aCg		tumor protein D52							112.0	116.0	115.0					8																	80954871		2203	4299	6502	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80954871T>G	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.539A>C	8.37:g.80954871T>G	ENSP00000368391:p.Lys180Thr					TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000379097.3_Missense_Mutation_p.K180T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T	p.K140T	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		5	533	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	180					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.419A>C	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807809	0.70797	.	.	ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000379097;ENST00000425513;ENST00000519303	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.11	5.11	0.69529	.	0.143577	0.64402	D	0.000008	T	0.56016	0.1957	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.81914	0.925;0.982;0.995	T	0.61397	-0.7071	10	0.66056	D	0.02	-31.5479	9.074	0.36511	0.0:0.0816:0.0:0.9184	.	140;163;180	P55327-2;E5RKB4;P55327	.;.;TPD52_HUMAN	T	180;140;163;203;189;194;180;140;16	ENSP00000438113:K180T;ENSP00000368390:K140T;ENSP00000429915:K163T;ENSP00000429309:K203T;ENSP00000429351:K189T;ENSP00000410222:K194T;ENSP00000368391:K180T;ENSP00000428951:K16T	ENSP00000368390:K140T	K	-	2	0	TPD52	81117426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.512000	0.53407	2.265000	0.75225	0.482000	0.46254	AAG		0.308	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		11	274	0	0	0	1	0	11	274				
CDC42BPB	9578	broad.mit.edu	37	14	103434632	103434632	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103434632C>A	ENST00000361246.2	-	16	2592	c.2304G>T	c.(2302-2304)atG>atT	p.M768I		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CATCAAACAGCATCGCTCTTT	0.368																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(2302-2304)atG>atT		CDC42 binding protein kinase beta (DMPK-like)							203.0	186.0	192.0					14																	103434632		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103434632C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2304G>T	14.37:g.103434632C>A	ENSP00000355237:p.Met768Ile						p.M768I	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	16	2592	-		Melanoma(154;0.155)	768						Missense_Mutation	SNP	ENST00000361246.2	37	c.2304G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	0.788	-0.759973	0.03019	.	.	ENSG00000198752	ENST00000361246	T	0.63580	-0.05	4.47	2.64	0.31445	.	0.272643	0.42682	N	0.000661	T	0.39545	0.1082	N	0.17082	0.46	0.39110	D	0.961469	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	10	0.23891	T	0.37	.	6.6845	0.23138	0.0:0.706:0.1457:0.1483	.	768	Q9Y5S2	MRCKB_HUMAN	I	768	ENSP00000355237:M768I	ENSP00000355237:M768I	M	-	3	0	CDC42BPB	102504385	1.000000	0.71417	0.251000	0.24312	0.079000	0.17450	0.811000	0.27198	0.461000	0.27071	0.561000	0.74099	ATG		0.368	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		7	411	1	0	2.0095e-06	1	2.04741e-06	7	411				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	963	0	0	0	1	0	6	963				
ATXN7	6314	broad.mit.edu	37	3	63973881	63973881	+	Silent	SNP	G	G	A	rs190142927		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:63973881G>A	ENST00000295900.6	+	9	1792	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000398590.3_Silent_p.P414P|ATXN7_ENST00000538065.1_Silent_p.P414P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	414	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGACCCGCATCCCGCCC	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15015	0.0		0.0	False		,,,				2504	0.0					ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1240-1242)ccG>ccA		ataxin 7							110.0	125.0	121.0					3																	63973881		1947	4138	6085	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973881G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1242G>A	3.37:g.63973881G>A						ATXN7_ENST00000538065.1_Silent_p.P414P|ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000295900.6_Silent_p.P414P	p.P414P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1795	+		Prostate(884;0.0181)	414			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.1242G>A	CCDS43102.1																																																																																				0.512	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		6	805	0	0	0	1	0	6	805				
CCND2	894	broad.mit.edu	37	12	4387932	4387932	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:4387932G>A	ENST00000261254.3	+	3	687	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	140	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CCAGGAGTGGGAACTGGTGGT	0.562			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(418-420)Gaa>Aaa		cyclin D2							86.0	91.0	89.0					12																	4387932		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4387932G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.418G>A	12.37:g.4387932G>A	ENSP00000261254:p.Glu140Lys						p.E140K	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		3	687	+			140			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.418G>A	CCDS8524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.856601|4.856601	0.91355|0.91355	.|.	.|.	ENSG00000118971|ENSG00000118971	ENST00000261254|ENST00000536537	T|.	0.45276|.	0.9|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88698|0.88698	0.6507|0.6507	H|H	0.97783|0.97783	4.075|4.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	.|.	16.8234|16.8234	0.85924|0.85924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	140|.	P30279|.	CCND2_HUMAN|.	K|E	140|55	ENSP00000261254:E140K|.	ENSP00000261254:E140K|.	E|G	+|+	1|2	0|0	CCND2|CCND2	4258193|4258193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	9.860000|9.860000	0.99555|0.99555	2.198000|2.198000	0.70561|0.70561	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.562	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		8	338	0	0	0	1	0	8	338				
TGFBR1	7046	broad.mit.edu	37	9	101911492	101911492	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:101911492G>A	ENST00000374994.4	+	9	1534	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATTATGAGAGAATGTTGGTA	0.348																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(1417-1419)Gaa>Aaa		transforming growth factor, beta receptor 1							71.0	64.0	66.0					9																	101911492		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101911492G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1417G>A	9.37:g.101911492G>A	ENSP00000364133:p.Glu473Lys					TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	p.E473K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			9	1534	+		Acute lymphoblastic leukemia(62;0.0559)	473			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1417G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880269	0.91740	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.986;0.997	T	0.81272	-0.1008	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	396;473	P36897-3;P36897	.;TGFR1_HUMAN	K	473;435;396;477;404	ENSP00000364133:E473K;ENSP00000364129:E396K;ENSP00000447297:E477K;ENSP00000450052:E404K	ENSP00000364129:E396K	E	+	1	0	TGFBR1	100951313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	GAA		0.348	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			10	177	0	0	0	1	0	10	177				
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:98188534C>T	ENST00000332650.5	+	1	211	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433																																						ENST00000332650.5																			2	Substitution - coding silent(2)	p.T38T(2)	lung(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(112-114)acC>acT		olfactory receptor, family 5, subfamily K, member 1							166.0	165.0	166.0					3																	98188534		2203	4297	6500	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188534C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.114C>T	3.37:g.98188534C>T							p.T38T	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	211	+			38					B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.114C>T	CCDS43115.1																																																																																				0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			21	736	0	0	0	1	0	21	736				
SEMA4F	10505	broad.mit.edu	37	2	74906803	74906803	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:74906803G>A	ENST00000357877.2	+	14	1929	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	594	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCAGCATGGGCATCCTGTGT	0.597																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1780-1782)Gca>Aca		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							142.0	127.0	132.0					2																	74906803		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906803G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1780G>A	2.37:g.74906803G>A	ENSP00000350547:p.Ala594Thr					SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T	p.A594T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1929	+			594			Ig-like C2-type.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1780G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159512	0.78226	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.38887	1.35;1.11	5.11	4.17	0.49024	.	0.162036	0.42420	D	0.000708	T	0.39708	0.1088	N	0.08118	0	0.34492	D	0.705097	D;D	0.67145	0.996;0.996	D;D	0.68039	0.955;0.931	T	0.55742	-0.8093	10	0.87932	D	0	.	10.0521	0.42221	0.0:0.0:0.7993:0.2007	.	439;594	O95754-2;O95754	.;SEM4F_HUMAN	T	594;439	ENSP00000350547:A594T;ENSP00000342675:A439T	ENSP00000342675:A439T	A	+	1	0	SEMA4F	74760311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.586000	0.36611	2.376000	0.81061	0.467000	0.42956	GCA		0.597	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		6	581	0	0	0	1	0	6	581				
RHOC	389	broad.mit.edu	37	1	113244218	113244218	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:113244218G>A	ENST00000285735.2	-	6	1735	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	RHOC_ENST00000369642.3_Missense_Mutation_p.R176W|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000339083.7_Missense_Mutation_p.R176W			P08134	RHOC_HUMAN	ras homolog family member C	176					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCAGCCCGAGTGGCCATC	0.617																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(526-528)Cgg>Tgg		ras homolog family member C							114.0	102.0	106.0					1																	113244218		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113244218G>A	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"""ras homolog gene family, member C"""	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.526C>T	1.37:g.113244218G>A	ENSP00000285735:p.Arg176Trp					RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W	p.R176W			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1735	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	176					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.526C>T	CCDS854.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936495	0.73442	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369632;ENST00000484054;ENST00000425265	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.13	0.702	0.18110	.	.	.	.	.	T	0.76673	0.4020	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80313	-0.1435	9	0.87932	D	0	-1.3188	14.0156	0.64523	0.0:0.0:0.4807:0.5193	.	176	P08134	RHOC_HUMAN	W	176;176;176;176;176;176;176;213;176	ENSP00000345236:R176W;ENSP00000358647:R176W;ENSP00000358656:R176W;ENSP00000285735:R176W;ENSP00000358652:R176W;ENSP00000358651:R176W;ENSP00000358646:R176W;ENSP00000434877:R213W;ENSP00000390823:R176W	ENSP00000285735:R176W	R	-	1	2	RHOC	113045741	0.990000	0.36364	0.990000	0.47175	0.998000	0.95712	2.208000	0.42797	0.157000	0.19338	0.563000	0.77884	CGG		0.617	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		22	396	0	0	0	1	0	22	396				
PIK3CG	5294	broad.mit.edu	37	7	106508683	106508683	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:106508683G>A	ENST00000359195.3	+	2	987	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	226	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCATTCACCGCAGCACCACC	0.572																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(676-678)cGc>cAc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							115.0	118.0	117.0					7																	106508683		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508683G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.677G>A	7.37:g.106508683G>A	ENSP00000352121:p.Arg226His					PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H	p.R226H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	987	+			226					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.677G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543339	0.27563	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70282	-0.47;-0.47;-0.47	5.5	5.5	0.81552	Phosphoinositide 3-kinase, ras-binding (2);	0.132697	0.56097	D	0.000040	T	0.64114	0.2569	L	0.44542	1.39	0.43564	D	0.995886	P	0.50066	0.931	P	0.45377	0.478	T	0.59150	-0.7508	10	0.14252	T	0.57	-24.9223	13.0307	0.58840	0.074:0.0:0.926:0.0	.	226	P48736	PK3CG_HUMAN	H	226	ENSP00000392258:R226H;ENSP00000419260:R226H;ENSP00000352121:R226H	ENSP00000352121:R226H	R	+	2	0	PIK3CG	106295919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.392000	0.59659	2.736000	0.93811	0.591000	0.81541	CGC		0.572	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	475	0	0	0	1	0	5	475				
MTM1	4534	broad.mit.edu	37	X	149832023	149832023	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:149832023C>T	ENST00000370396.2	+	14	1639	c.1585C>T	c.(1585-1587)Cgt>Tgt	p.R529C	MTM1_ENST00000413012.2_Missense_Mutation_p.R492C|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	529	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGTATGCGTCACTTGGA	0.358																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1585-1587)Cgt>Tgt		myotubularin 1							91.0	79.0	83.0					X																	149832023		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832023C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1585C>T	X.37:g.149832023C>T	ENSP00000359423:p.Arg529Cys					MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C	p.R529C	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			14	1639	+	Acute lymphoblastic leukemia(192;6.56e-05)		529			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1585C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790939	0.50102	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.90261	-2.64;-2.64;-2.64	5.39	4.52	0.55395	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.85777	2.775	0.80722	D	1	P;B	0.35033	0.481;0.245	B;B	0.26094	0.055;0.066	D	0.87953	0.2725	10	0.44086	T	0.13	.	13.4599	0.61221	0.0:0.9221:0.0:0.0779	.	492;529	B7Z491;Q13496	.;MTM1_HUMAN	C	529;414;492	ENSP00000359423:R529C;ENSP00000439784:R414C;ENSP00000389157:R492C	ENSP00000359423:R529C	R	+	1	0	MTM1	149582681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	1.039000	0.40074	0.513000	0.50165	CGT		0.358	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		6	720	0	0	0	1	0	6	720				
UGGT1	56886	broad.mit.edu	37	2	128941276	128941276	+	Silent	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:128941276G>A	ENST00000259253.6	+	38	4319	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K	UGGT1_ENST00000375990.3_Silent_p.K1400K	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1424	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATCTGAAGAAGTTTAGGAAAA	0.423																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4198-4200)aaG>aaA		UDP-glucose glycoprotein glucosyltransferase 1							122.0	117.0	119.0					2																	128941276		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128941276G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4272G>A	2.37:g.128941276G>A						UGGT1_ENST00000259253.6_Silent_p.K1424K	p.K1400K			Q9NYU2	UGGG1_HUMAN			38	4603	+			1424			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.4200G>A	CCDS2154.1																																																																																				0.423	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		5	177	0	0	0	1	0	5	177				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	197	0	0	0	1	0	10	197				
ZC3H13	23091	broad.mit.edu	37	13	46559723	46559723	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:46559723G>A	ENST00000242848.4	-	10	1777	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	477	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R477W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTGAGTCCCGCATGTCTCTG	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Missense(1)	p.R477W(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1429-1431)Cgg>Tgg		zinc finger CCCH-type containing 13							192.0	190.0	190.0					13																	46559723		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559723G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1429C>T	13.37:g.46559723G>A	ENSP00000242848:p.Arg477Trp					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477W	p.R477W			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	1777	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	477			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1429C>T		.	.	.	.	.	.	.	.	.	.	G	14.32	2.501462	0.44455	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.48836	1.74;0.8	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000040	T	0.61974	0.2390	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63404	-0.6645	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	477;477	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	W	477;477;293	ENSP00000242848:R477W;ENSP00000282007:R477W	ENSP00000242848:R477W	R	-	1	2	ZC3H13	45457724	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.531000	0.60602	2.752000	0.94435	0.655000	0.94253	CGG		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	710	0	0	0	1	0	5	710				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	447	0	0	0	1	0	5	447				
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		7	272						7	272	---	---	---	---
TMEM57	55219	broad.mit.edu	37	1	25775375	25775375	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:25775375delT	ENST00000374343.4	+	3	478	c.299delT	c.(298-300)cttfs	p.L100fs	TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	100					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGTGGCTTTTTTTTGCT	0.343																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(298-300)ctfs		transmembrane protein 57							143.0	133.0	136.0					1																	25775375		2203	4300	6503	SO:0001589	frameshift_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25775375delT	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.299delT	1.37:g.25775375delT	ENSP00000363463:p.Leu100fs					TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.L100fs	p.L100fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	3	478	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	100					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Frame_Shift_Del	DEL	ENST00000374343.4	37	c.299delT	CCDS30638.1																																																																																				0.343	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		9	461						9	461	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636626	36636626	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:36636626delC	ENST00000373151.2	+	2	317	c.101delC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000316156.4_Frame_Shift_Del_p.S34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTGACCCTTCCCCCCCACCA	0.597																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(100-102)tcfs		MAP7 domain containing 1							55.0	59.0	57.0					1																	36636626		2203	4300	6503	SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636626delC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.101delC	1.37:g.36636626delC	ENSP00000362244:p.Ser34fs					MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S34fs	p.S34fs			Q3KQU3	MA7D1_HUMAN			2	554	+		Myeloproliferative disorder(586;0.0393)	34			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Del	DEL	ENST00000373151.2	37	c.101delC	CCDS30673.1																																																																																				0.597	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		7	458						7	458	---	---	---	---
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		7	685						7	685	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	596						7	596	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142699961	142699961	+	lincRNA	DEL	T	T	-	rs199580941|rs200844453|rs200996945	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:142699961delT	ENST00000610091.1	-	0	3130																											tatatatatatatatCCAAAA	0.259													|||unknown(NO_COVERAGE)	2779	0.554912	0.3616	0.7421	5008	,	,		12534	0.4841		0.7654	False		,,,				2504	0.5399					ENST00000369381.2																			0																																																			0							g.chr1:142699961delT																													1.37:g.142699961delT														0	2077	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.259	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156626160	156626160	+	Frame_Shift_Del	DEL	G	G	-	rs571106745		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:156626160delG	ENST00000329117.5	+	9	2365	c.2029delG	c.(2029-2031)gggfs	p.G678fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	678	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGGCTATGGGGGGGACCT	0.622																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2029-2031)ggfs		brevican							84.0	76.0	79.0					1																	156626160		2203	4300	6503	SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626160delG	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2029delG	1.37:g.156626160delG	ENSP00000331210:p.Gly678fs					RP11-284F21.7_ENST00000448869.1_RNA	p.G678fs	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2365	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		678			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Del	DEL	ENST00000329117.5	37	c.2029delG	CCDS1149.1																																																																																				0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		7	633						7	633	---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1345-1347)tfs		cell division cycle 25A																																				SO:0001589	frameshift_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200922_48200923delTC	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1345_1346delGA	3.37:g.48200932_48200933delTC	ENSP00000303706:p.Asp449fs					CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	p.D449fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1753_1754	-			449			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	c.1345_1346delGA	CCDS2760.1																																																																																				0.515	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	402						7	402	---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50655079	50655080	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:50655079_50655080insG	ENST00000446044.1	+	4	679_680	c.83_84insG	c.(82-87)ccggggfs	p.PG28fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.PG28fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	28			P -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.R31fs*47(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGCGGTGCTCCGGGGGGGCGGC	0.698																																						ENST00000446044.1																			1	Insertion - Frameshift(1)	p.R31fs*47(1)	large_intestine(1)	central_nervous_system(1)|ovary(1)	2						c.(82-84)cggfs		mitogen-activated protein kinase-activated protein kinase 3				14,4250		0,14,2118						0.6	0.0			46	10,8244		0,10,4117	no	frameshift	MAPKAPK3	NM_004635.4		0,24,6235	A1A1,A1R,RR		0.1212,0.3283,0.1917				24,12494				SO:0001589	frameshift_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50655079_50655080insG	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.90dupG	3.37:g.50655086_50655086dupG	ENSP00000396467:p.Pro28fs					MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.R28fs	p.R28fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	4	679_680	+			28		P -> S (in a glioblastoma multiforme sample; somatic mutation).			B5BU67	Frame_Shift_Ins	INS	ENST00000446044.1	37	c.83_84insG	CCDS2832.1																																																																																				0.698	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		7	498						7	498	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150421899	150421900	+	5'Flank	INS	-	-	C	rs34009900|rs375533661|rs112656172	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:150421899_150421900insC	ENST00000295910.6	-	0	0				RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_5'Flank	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTGTCCCTGCTCTTCAGCGT	0.545													C|C|CC|insertion	576	0.115016	0.0121	0.2291	5008	,	,		12181	0.003		0.3181	False		,,,				2504	0.0798					ENST00000475393.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:150421899_150421900insC																													3.37:g.150421900_150421900dupC	Exception_encountered					RP11-103G8.2_ENST00000471093.1_RNA								0	20	+									RNA	INS	ENST00000295910.6	37		CCDS3151.2																																																																																				0.545	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			12	13						12	13	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046142	151046142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:151046142delT	ENST00000325602.5	-	2	721	c.702delA	c.(700-702)aaafs	p.K234fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	234					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AATCATATACTTTTTTTGCAA	0.338																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(700-702)aafs		purinergic receptor P2Y, G-protein coupled, 13							71.0	77.0	75.0					3																	151046142		2199	4297	6496	SO:0001589	frameshift_variant	53829					integral to membrane|plasma membrane		g.chr3:151046142delT	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.702delA	3.37:g.151046142delT	ENSP00000320376:p.Lys234fs					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.K234fs	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	721	-			234					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Del	DEL	ENST00000325602.5	37	c.702delA	CCDS3158.2																																																																																				0.338	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		9	332						9	332	---	---	---	---
HAUS3	79441	broad.mit.edu	37	4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:2242634delT	ENST00000243706.4	-	2	269	c.40delA	c.(40-42)attfs	p.I14fs	HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGATAACCAATTTTTTTTAAT	0.353																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(40-42)ttfs		HAUS augmin-like complex, subunit 3							64.0	64.0	64.0					4																	2242634		2203	4300	6503	SO:0001589	frameshift_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242634delT	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.40delA	4.37:g.2242634delT	ENSP00000243706:p.Ile14fs					HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs	p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	269	-			14					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Frame_Shift_Del	DEL	ENST00000243706.4	37	c.40delA	CCDS33941.1																																																																																				0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		7	521						7	521	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		9	300						9	300	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-	rs562339021		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1949_1951delACC	4.37:g.186544629_186544631delGGT	ENSP00000284776:p.His650del					SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000437304.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	316						7	316	---	---	---	---
LOC100653061	100653061	broad.mit.edu	37	5	34182623	34182624	+	RNA	INS	-	-	A	rs375410327|rs79699565|rs75992846		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:34182623_34182624insA	ENST00000514048.1	-	0	231																											aataaataaataaaaaatCTGG	0.436																																						ENST00000514048.1																			0																																																			0							g.chr5:34182623_34182624insA																													5.37:g.34182629_34182629dupA														0	231	-									RNA	INS	ENST00000514048.1	37																																																																																						0.436	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000367775.1			5	7						5	7	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-	rs555024246|rs140268489		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aacagc>aac	p.S67del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	67	Gly/Ser-rich.				BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.7																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(181-186)aac>aa		early growth response 1																																				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801633_137801635delCAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.183_185delCAG	5.37:g.137801642_137801644delCAG	ENSP00000239938:p.Ser67del						p.NS61del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	455_457	+			61			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.183_185delCAG	CCDS4206.1																																																																																				0.700	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	225						7	225	---	---	---	---
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		8	307						8	307	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		13	248						13	248	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank	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					STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_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			9	764						9	764	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		8	38						8	38	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(175-177)del		runt-related transcription factor 2																																				SO:0001651	inframe_deletion	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390446_45390448delCAG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.175_177delCAG	6.37:g.45390455_45390457delCAG	ENSP00000360493:p.Gln71del					RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	p.Q71del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	533_535	+			71			Poly-Gln.		O14614|O14615|O95181	In_Frame_Del	DEL	ENST00000371438.1	37	c.175_177delCAG	CCDS43467.2																																																																																				0.729	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		9	131						9	131	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	816						7	816	---	---	---	---
PDIA4	9601	broad.mit.edu	37	7	148702234	148702234	+	Splice_Site	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:148702234delT	ENST00000286091.4	-	9	1753	c.1521delA	c.(1519-1521)aaa>aa	p.K507fs		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	507	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGGGCTCACCTTTTTTGAAAG	0.612																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.e9+1		protein disulfide isomerase family A, member 4							110.0	110.0	110.0					7																	148702234		2203	4300	6503	SO:0001630	splice_region_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702234delT	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1522+1A>-	7.37:g.148702234delT							p.K507_splice	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1753	-	Melanoma(164;0.15)		507			Thioredoxin 3.		A8K4K6|Q549T6	Splice_Site	DEL	ENST00000286091.4	37	c.1522_splice	CCDS5893.1																																																																																				0.612	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	Frame_Shift_Del	7	806						7	806	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	906						7	906	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					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)				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)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				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.(892-894)ggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	150.0	148.0					9																	20413952		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413952delT	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.892delA	9.37:g.20413952delT	ENSP00000369695:p.Arg298fs					MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.R298fs	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	1178	-			298					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.892delA	CCDS6494.1																																																																																				0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	668						9	668	---	---	---	---
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-	rs200487787	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	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			9	14						9	14	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		8	200						8	200	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		9	1079						9	1079	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416219	62416221	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:62416219_62416221delGCA	ENST00000330574.2	-	2	1383_1385	c.1331_1333delTGC	c.(1330-1335)ctgcac>cac	p.L444del	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	444					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TTTTGCAGGTGCAGCAGCAGCAG	0.621																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1330-1335)cac>c		integrator complex subunit 5																																				SO:0001651	inframe_deletion	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416219_62416221delGCA	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1331_1333delTGC	11.37:g.62416228_62416230delGCA	ENSP00000327889:p.Leu444del						p.LH444del	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1383_1385	-			444					Q8N6W5|Q9C0G5	In_Frame_Del	DEL	ENST00000330574.2	37	c.1331_1333delTGC	CCDS8027.1																																																																																				0.621	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	320						7	320	---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	3'UTR	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:63525788delT	ENST00000377819.5	+	0	3368				RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000354497.4_Frame_Shift_Del_p.A190fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000356000.3_3'UTR	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3						apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348																																						ENST00000354497.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(568-570)gcfs		reticulon 3							48.0	49.0	49.0					11																	63525788		2201	4298	6499	SO:0001624	3_prime_UTR_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63525788delT	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.*115T>-	11.37:g.63525788delT						RTN3_ENST00000540798.1_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000339997.4_3'UTR	p.A190fs	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN			4	634	+			0					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	ENST00000377819.5	37	c.570delT	CCDS58141.1																																																																																				0.348	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		9	271						9	271	---	---	---	---
MTL5	9633	broad.mit.edu	37	11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:68480836delT	ENST00000255087.5	-	8	1243	c.1060delA	c.(1060-1062)attfs	p.I354fs		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	354	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473																																						ENST00000255087.5																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(1060-1062)ttfs		metallothionein-like 5, testis-specific (tesmin)							193.0	193.0	193.0					11																	68480836		2200	4294	6494	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68480836delT	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1060delA	11.37:g.68480836delT	ENSP00000255087:p.Ile354fs						p.I354fs	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		8	1243	-	Esophageal squamous(3;4.37e-12)		354					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.1060delA	CCDS8184.1																																																																																				0.473	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		7	1585						7	1585	---	---	---	---
C1QTNF5	114902	broad.mit.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C	rs369839371		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:119210189_119210190insC	ENST00000528368.1	-	3	814_815	c.583_584insG	c.(583-585)gccfs	p.A195fs	C1QTNF5_ENST00000445041.2_Frame_Shift_Ins_p.A195fs|MFRP_ENST00000555262.1_3'UTR|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|RP11-334E6.10_ENST00000501918.2_RNA	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589																																						ENST00000445041.2																			0				endometrium(1)|lung(2)	3						c.(583-585)catfs		C1q and tumor necrosis factor related protein 5																																				SO:0001589	frameshift_variant	114902				embryo development	integral to membrane		g.chr11:119210189_119210190insC	AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.584dupG	11.37:g.119210197_119210197dupC	ENSP00000431140:p.Ala195fs					C1QTNF5_ENST00000528368.1_Frame_Shift_Ins_p.H195fs|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000530681.1_3'UTR|MFRP_ENST00000555262.1_3'UTR	p.H195fs	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	3378_3379	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	147			CUB 1.		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Ins	INS	ENST00000528368.1	37	c.583_584insG	CCDS8420.1																																																																																				0.589	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388354.1	NM_015645		11	405						11	405	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		9	478						9	478	---	---	---	---
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(991-993)ggfs		transmembrane protein 19							199.0	184.0	189.0					12																	72094757		2203	4300	6503	SO:0001589	frameshift_variant	55266					integral to membrane		g.chr12:72094757delT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.993delT	12.37:g.72094757delT	ENSP00000266673:p.Gly331fs						p.G331fs	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1587	+		Breast(359;0.0889)	331					B2RDL2|Q53FY3|Q9NV41	Frame_Shift_Del	DEL	ENST00000266673.5	37	c.993delT	CCDS9002.1																																																																																				0.433	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		10	965						10	965	---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aaafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363																																						ENST00000322886.7																			2	Deletion - Frameshift(2)	p.K59fs*29(2)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(175-177)aafs		E2F transcription factor 7							82.0	84.0	83.0					12																	77449827		2203	4300	6503	SO:0001589	frameshift_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77449827delT	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.177delA	12.37:g.77449827delT	ENSP00000323246:p.Lys59fs					E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			3	412	-			59					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	c.177delA	CCDS9016.1																																																																																				0.363	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		9	501						9	501	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		8	939						8	939	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635045	100635045	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:100635045delT	ENST00000376335.3	+	1	1020	c.727delT	c.(727-729)tttfs	p.F244fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	244	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ccCCGGTGCCTTTTTCCGCTA	0.562																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(727-729)ttfs		Zic family member 2							52.0	58.0	56.0					13																	100635045		2203	4300	6503	SO:0001589	frameshift_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635045delT	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.727delT	13.37:g.100635045delT	ENSP00000365514:p.Phe244fs						p.F244fs	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1020	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		244			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Frame_Shift_Del	DEL	ENST00000376335.3	37	c.727delT	CCDS9495.1																																																																																				0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	391						7	391	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:100367334delT	ENST00000262233.6	+	9	1105	c.966delT	c.(964-966)ggtfs	p.G322fs	EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs|EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(964-966)ggfs		echinoderm microtubule associated protein like 1							311.0	270.0	284.0					14																	100367334		2203	4300	6503	SO:0001589	frameshift_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367334delT	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.966delT	14.37:g.100367334delT	ENSP00000262233:p.Gly322fs					EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	p.G322fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1105	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	322					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Frame_Shift_Del	DEL	ENST00000262233.6	37	c.966delT	CCDS32155.1																																																																																				0.428	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		7	634						7	634	---	---	---	---
YY1	7528	broad.mit.edu	37	14	100705708	100705710	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:100705708_100705710delGAG	ENST00000262238.4	+	1	387_389	c.127_129delGAG	c.(127-129)gagdel	p.E47del	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	47	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E43delE(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGTggtgggcgaggaggaggagg	0.719																																						ENST00000262238.4																			1	Deletion - In frame(1)	p.E43delE(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(127-129)del		YY1 transcription factor				381,3745		7,367,1689						1.4	0.5			18	569,7489		8,553,3468	no	coding	YY1	NM_003403.3		15,920,5157	A1A1,A1R,RR		7.0613,9.2341,7.7971				950,11234				SO:0001651	inframe_deletion	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705708_100705710delGAG	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.127_129delGAG	14.37:g.100705717_100705719delGAG	ENSP00000262238:p.Glu47del						p.E47del	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	387_389	+		Melanoma(154;0.152)	47			Asp/Glu-rich (acidic).		Q14935	In_Frame_Del	DEL	ENST00000262238.4	37	c.127_129delGAG	CCDS9957.1																																																																																				0.719	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		7	75						7	75	---	---	---	---
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77.0	87.0	84.0					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		10	633						10	633	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	464						8	464	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-	rs370141395		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		8	804						8	804	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19580800_19580802delTCC	ENST00000251143.5	+	3	184_186	c.172_174delTCC	c.(172-174)tccdel	p.S64del	C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000438132.3_In_Frame_Del_p.S153del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64	Ser-rich.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(439-441)del		chromosome 16 open reading frame 62																																				SO:0001651	inframe_deletion	57020					integral to membrane		g.chr16:19580800_19580802delTCC		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.172_174delTCC	16.37:g.19580809_19580811delTCC	ENSP00000251143:p.Ser64del					C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del	p.S153del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			3	487_489	+			64					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	In_Frame_Del	DEL	ENST00000251143.5	37	c.439_441delTCC																																																																																					0.562	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		7	214						7	214	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del|ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			13	950						13	950	---	---	---	---
BCL7C	9274	broad.mit.edu	37	16	30899223	30899223	+	Frame_Shift_Del	DEL	G	G	-	rs150838242		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:30899223delG	ENST00000215115.4	-	6	1632	c.617delC	c.(616-618)ccafs	p.P206fs	MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GCGCTTGAGTGGGGGGGCACC	0.622																																						ENST00000215115.4																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)	6						c.(616-618)cafs		B-cell CLL/lymphoma 7C							76.0	92.0	87.0					16																	30899223		2197	4300	6497	SO:0001589	frameshift_variant	9274				apoptosis			g.chr16:30899223delG	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.617delC	16.37:g.30899223delG	ENSP00000215115:p.Pro206fs					AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA	p.P206fs	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	Colorectal(24;0.198)		6	1632	-			206			Pro-rich.		O43770|Q6PD89	Frame_Shift_Del	DEL	ENST00000215115.4	37	c.617delC	CCDS10693.1																																																																																				0.622	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		9	774						9	774	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		8	637						8	637	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	321						9	321	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71220808	71220808	+	5'UTR	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:71220808delT	ENST00000393567.2	-	0	141				HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000538248.1_Frame_Shift_Del_p.K24fs|HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000393550.2_5'UTR	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTTAGTAATTTTTTTTTCT	0.333																																						ENST00000538248.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(70-72)aafs		HYDIN, axonemal central pair apparatus protein							87.0	88.0	88.0					16																	71220808		2198	4300	6498	SO:0001623	5_prime_UTR_variant	54768							g.chr16:71220808delT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.-10A>-	16.37:g.71220808delT						HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000448691.1_5'UTR	p.K24fs	NM_001198542.1	NP_001185471.1	Q4G0P3	HYDIN_HUMAN			2	106	-		Ovarian(137;0.0654)	0					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	ENST00000393567.2	37	c.72delA	CCDS59269.1																																																																																				0.333	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	412						7	412	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_ENST00000423172.2_3'UTR|SOX15_ENST00000538513.2_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			10	1039						10	1039	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		16	1098						16	1098	---	---	---	---
PLCD3	113026	broad.mit.edu	37	17	43192760	43192762	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:43192760_43192762delTCC	ENST00000322765.5	-	9	1622_1624	c.1509_1511delGGA	c.(1507-1512)gaggat>gat	p.E503del	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	503					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E503D(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						ctcctcgtcatcctcctcctcct	0.67																																						ENST00000322765.5																			2	Substitution - Missense(2)	p.E503D(2)	prostate(2)	breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1507-1512)gat>ga		phospholipase C, delta 3	Phosphatidylserine(DB00144)			316,3576		28,260,1658						-0.9	0.0			15	741,7257		61,619,3319	no	coding	PLCD3	NM_133373.3		89,879,4977	A1A1,A1R,RR		9.2648,8.1192,8.8898				1057,10833				SO:0001651	inframe_deletion	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192760_43192762delTCC	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1509_1511delGGA	17.37:g.43192769_43192771delTCC	ENSP00000313731:p.Glu503del					PLCD3_ENST00000540511.1_5'UTR	p.ED503del	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			9	1622_1624	-			503					Q8TEC1|Q8TF37|Q96FL6	In_Frame_Del	DEL	ENST00000322765.5	37	c.1509_1511delGGA																																																																																					0.670	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		7	92						7	92	---	---	---	---
WBP11P1	441818	broad.mit.edu	37	18	30091782	30091782	+	RNA	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:30091782delT	ENST00000567636.1	+	0	157					NR_003558.1				WW domain binding protein 11 pseudogene 1																		tttctttttctttttttttAA	0.418																																						ENST00000567636.1																			0																																																			0							g.chr18:30091782delT	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091782delT								NR_003558.1						0	157	+									RNA	DEL	ENST00000567636.1	37																																																																																						0.418	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			8	239						8	239	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		8	505						8	505	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197891	48197891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:48197891delC	ENST00000396720.3	+	8	2997	c.2803delC	c.(2803-2805)cccfs	p.P940fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	940	Poly-Pro.									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)		GCCGGCAGCACCCCCCCCACC	0.672																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2803-2805)ccfs		glioma tumor suppressor candidate region gene 1				33,53,3378		2,0,29,2,49,1650	14.0	16.0	16.0			-4.0	0.0	19		16	51,107,7600		1,0,49,8,91,3730	no	codingComplex	GLTSCR1	NM_015711.3		3,0,78,10,140,5380	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0366,2.4827,2.1743			48197891	84,160,10978	1829	4072	5901	SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48197891delC	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.2803delC	19.37:g.48197891delC	ENSP00000379946:p.Pro940fs					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P940fs	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)	8	2997	+		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)	940			Poly-Pro.		A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	37	c.2803delC	CCDS46134.1																																																																																				0.672	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		11	167						11	167	---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3235916	3235916	+	Frame_Shift_Del	DEL	T	T	-	rs2281496	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:3235916delT	ENST00000252032.9	-	35	3343	c.3276delA	c.(3274-3276)aaafs	p.K1092fs	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1092										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCTTCAGGGCTTTCCTCTGAG	0.612																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(3274-3276)aafs		chromosome 20 open reading frame 194							46.0	51.0	49.0					20																	3235916		1888	3930	5818	SO:0001589	frameshift_variant	25943							g.chr20:3235916delT	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3276delA	20.37:g.3235916delT	ENSP00000252032:p.Lys1092fs					C20orf194_ENST00000453730.2_3'UTR	p.K1092fs	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			35	3343	-			1092					Q66K86|Q6P2R9|Q9UFX9	Frame_Shift_Del	DEL	ENST00000252032.9	37	c.3276delA	CCDS42851.1																																																																																				0.612	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		2	4						2	4	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989772	47989772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:47989772delG	ENST00000371741.4	-	2	2491	c.2325delC	c.(2323-2325)cccfs	p.P775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGAGGCTTTTGGGGGGGCTGG	0.547																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2325)ccfs		potassium voltage-gated channel, Shab-related subfamily, member 1							204.0	223.0	216.0					20																	47989772		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989772delG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2325delC	20.37:g.47989772delG	ENSP00000360806:p.Pro775fs						p.P775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491	-			775					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2325delC	CCDS13418.1																																																																																				0.547	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	1635						7	1635	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	598						7	598	---	---	---	---
SMPD4P1	645280	broad.mit.edu	37	22	20976583	20976584	+	RNA	INS	-	-	A			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:20976583_20976584insA	ENST00000443839.1	-	0	1539									sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1																		agactttgcctaaaaaaaaaaa	0.52																																						ENST00000443839.1																			0																																																			0							g.chr22:20976583_20976584insA			22q11.21	2011-03-22			ENSG00000223553	ENSG00000223553			39673	pseudogene	pseudogene							Standard	NG_028286		Approved				OTTHUMG00000030245		22.37:g.20976594_20976594dupA														0	1539	-									RNA	INS	ENST00000443839.1	37																																																																																						0.520	SMPD4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319965.1			3	3						3	3	---	---	---	---
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1579-1581)ttfs		retinoic acid induced 2							182.0	201.0	195.0					X																	17818550		2203	4300	6503	SO:0001589	frameshift_variant	10742				embryo development			g.chrX:17818550delA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1581delT	X.37:g.17818550delA	ENSP00000444210:p.Phe527fs					RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs	p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	2041	-	Hepatocellular(33;0.183)		527					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	ENST00000545871.1	37	c.1581delT	CCDS14183.1																																																																																				0.333	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		7	2140						7	2140	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(148-153)act>a		nucleosome assembly protein 1-like 3				192,3509		5,127,55,1456,470						-0.4	0.0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928153_92928155delTGC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del					NAP1L3_ENST00000475430.1_5'UTR	p.ST50del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	412_414	-			50			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.149_151delGCA	CCDS14465.1																																																																																				0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		9	195						9	195	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112058783	112058785	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:112058783_112058785delGCT	ENST00000524145.1	-	3	1267_1269	c.1193_1195delAGC	c.(1192-1197)cagcca>cca	p.Q398del	AMOT_ENST00000371958.1_In_Frame_Del_p.Q166del|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_In_Frame_Del_p.Q166del|AMOT_ENST00000371959.3_In_Frame_Del_p.Q398del			Q4VCS5	AMOT_HUMAN	angiomotin	398					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						tgctgctgtggctgctgctgctg	0.562																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1192-1197)cca>c		angiomotin																																				SO:0001651	inframe_deletion	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058783_112058785delGCT	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1193_1195delAGC	X.37:g.112058792_112058794delGCT	ENSP00000429013:p.Gln398del					AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_In_Frame_Del_p.QP166del|AMOT_ENST00000371962.1_In_Frame_Del_p.QP166del|AMOT_ENST00000524145.1_In_Frame_Del_p.QP398del	p.QP398del	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1192_1194	-			398					Q504X5|Q9HD27|Q9UPT1	In_Frame_Del	DEL	ENST00000524145.1	37	c.1193_1195delAGC	CCDS48154.1																																																																																				0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		9	253						9	253	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-	rs141900922|rs138660605|rs386828016		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	1581						7	1581	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										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)					TACCTCATCATTTTTTTTGTT	0.443																																						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.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214.0	197.0	202.0			-0.2	0.0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		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.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		12	919						12	919	---	---	---	---
