#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
ACOXL	55289	broad.mit.edu	37	2	111556628	111556628	+	Silent	SNP	C	C	T	rs200491300		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:111556628C>T	ENST00000389811.4	+	7	722	c.498C>T	c.(496-498)aaC>aaT	p.N166N	ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	166					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGATGAAAACGGAAGCTTGT	0.502																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(496-498)aaC>aaT		acyl-CoA oxidase-like		C		0,4406		0,0,2203	165.0	139.0	148.0		498	-10.7	0.1	2		148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACOXL	NM_001142807.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		166/581	111556628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111556628C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.498C>T	2.37:g.111556628C>T						ACOXL_ENST00000340561.4_Silent_p.N166N|ACOXL_ENST00000439055.1_Silent_p.N166N	p.N166N			Q9NUZ1	ACOXL_HUMAN			7	722	+			166					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.498C>T		.	.	.	.	.	.	.	.	.	.	C	8.179	0.793474	0.16327	0.0	1.16E-4	ENSG00000153093	ENST00000422487	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.61085	0.2319	.	.	.	0.45662	D	0.998582	.	.	.	.	.	.	T	0.77075	-0.2722	5	0.87932	D	0	-22.6667	9.5339	0.39211	0.0906:0.5713:0.0924:0.2458	.	.	.	.	M	18	.	ENSP00000404255:T18M	T	+	2	0	ACOXL	111273099	0.078000	0.21339	0.094000	0.20943	0.932000	0.56968	-1.471000	0.02344	-2.880000	0.00319	-0.961000	0.02630	ACG		0.502	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		71	455	0	0	0	1	0	71	455				
TUBB8P7	197331	broad.mit.edu	37	16	90161852	90161852	+	RNA	SNP	A	A	G	rs11076666	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:90161852A>G	ENST00000564451.1	+	0	1205				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TAGAAAACGCAGATGAGACCT	0.498													.|||	2324	0.464058	0.8646	0.3329	5008	,	,		17439	0.2083		0.4682	False		,,,				2504	0.2751					ENST00000567960.1																			0																																																			0							g.chr16:90161852A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161852A>G						TUBB8P7_ENST00000564451.1_RNA								0	588	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.498	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	503	0	0	0	1	0	5	503				
ANO5	203859	broad.mit.edu	37	11	22281145	22281145	+	Silent	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:22281145A>G	ENST00000324559.8	+	15	1805	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	496					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTCATGGAAAGTGATGCAT	0.413																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1486-1488)gaA>gaG		anoctamin 5							228.0	196.0	207.0					11																	22281145		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22281145A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1488A>G	11.37:g.22281145A>G							p.E496E	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			15	1805	+			496						Silent	SNP	ENST00000324559.8	37	c.1488A>G	CCDS31444.1																																																																																				0.413	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		37	289	0	0	0	1	0	37	289				
MAP3K19	80122	broad.mit.edu	37	2	135745297	135745297	+	Missense_Mutation	SNP	T	T	C	rs138047676		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:135745297T>C	ENST00000375845.3	-	7	1175	c.1145A>G	c.(1144-1146)cAa>cGa	p.Q382R	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	382							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCTGGATCTTGTTCATAGTT	0.373																																						ENST00000375845.3																			0											c.(1144-1146)cAa>cGa		mitogen-activated protein kinase kinase kinase 19		T	,ARG/GLN	0,4406		0,0,2203	80.0	78.0	79.0		,1145	2.4	0.0	2	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,benign	,382/1329	135745297	1,13005	2203	4300	6503	SO:0001583	missense	80122							g.chr2:135745297T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1145A>G	2.37:g.135745297T>C	ENSP00000365005:p.Gln382Arg					MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q399R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q269R|MAP3K19_ENST00000315513.3_5'UTR	p.Q382R	NM_025052.3	NP_079328.3					7	1175	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1145A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	5.220	0.226143	0.09916	0.0	1.16E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.71579	-0.58;-0.56;1.77	4.87	2.43	0.29744	.	0.173300	0.27797	N	0.017810	T	0.53449	0.1797	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.24721	0.023;0.11;0.006	B;B;B	0.23419	0.01;0.046;0.003	T	0.43750	-0.9372	10	0.45353	T	0.12	.	4.2146	0.10528	0.1483:0.1641:0.0:0.6876	.	269;399;382	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	R	382;269;399	ENSP00000365005:Q382R;ENSP00000351140:Q269R;ENSP00000376647:Q399R	ENSP00000351140:Q269R	Q	-	2	0	YSK4	135461767	0.002000	0.14202	0.008000	0.14137	0.243000	0.25628	0.664000	0.25068	0.326000	0.23384	0.528000	0.53228	CAA		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		46	271	0	0	0	1	0	46	271				
OR5M3	219482	broad.mit.edu	37	11	56237570	56237570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:56237570G>C	ENST00000312240.2	-	1	444	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACAACCCTTGACATTTTACT	0.408																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(403-405)tCa>tGa		olfactory receptor, family 5, subfamily M, member 3							95.0	89.0	91.0					11																	56237570		2201	4290	6491	SO:0001587	stop_gained	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237570G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.404C>G	11.37:g.56237570G>C	ENSP00000312208:p.Ser135*						p.S135*	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	444	-	Esophageal squamous(21;0.00448)		135					B2RNM7|Q6IEW4|Q96RC0	Nonsense_Mutation	SNP	ENST00000312240.2	37	c.404C>G	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502469	0.64298	.	.	ENSG00000174937	ENST00000312240	.	.	.	5.13	4.15	0.48705	.	0.000000	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.6464	11.3494	0.49579	0.0:0.0:0.692:0.308	.	.	.	.	X	135	.	ENSP00000312208:S135X	S	-	2	0	OR5M3	55994146	0.250000	0.23951	0.977000	0.42913	0.808000	0.45660	0.644000	0.24766	2.381000	0.81170	0.478000	0.44815	TCA		0.408	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		8	614	0	0	0	1	0	8	614				
LIPE	3991	broad.mit.edu	37	19	42912459	42912459	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42912459G>A	ENST00000244289.4	-	3	1711	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	479					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)	p.R479W(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGAATGGCCGGATGGCAGGC	0.627																																						ENST00000244289.4																			1	Substitution - Missense(1)	p.R479W(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1435-1437)Cgg>Tgg		lipase, hormone-sensitive							146.0	134.0	138.0					19																	42912459		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912459G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1435C>T	19.37:g.42912459G>A	ENSP00000244289:p.Arg479Trp					LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.R479W	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			3	1711	-		Prostate(69;0.00682)	479					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1435C>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263241	0.59431	.	.	ENSG00000079435	ENST00000244289	T	0.38722	1.12	4.32	2.02	0.26589	Hormone-sensitive lipase, N-terminal (1);	0.087086	0.42821	D	0.000649	T	0.63117	0.2484	M	0.80847	2.515	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.65191	-0.6228	10	0.66056	D	0.02	-18.1983	11.7483	0.51832	0.0:0.0:0.6491:0.3509	.	479;479	A8K8W7;Q05469	.;LIPS_HUMAN	W	479	ENSP00000244289:R479W	ENSP00000244289:R479W	R	-	1	2	LIPE	47604299	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	4.122000	0.57910	0.307000	0.22880	0.561000	0.74099	CGG		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		5	608	0	0	0	1	0	5	608				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		5	97	0	0	0	1	0	5	97				
KCNN4	3783	broad.mit.edu	37	19	44280710	44280710	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:44280710G>C	ENST00000262888.3	-	2	633	c.238C>G	c.(238-240)Cat>Gat	p.H80D		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	80					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCTTTGGCATGAAAGGCCACG	0.592																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(238-240)Cat>Gat		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						82.0	71.0	75.0					19																	44280710		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44280710G>C	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.238C>G	19.37:g.44280710G>C	ENSP00000262888:p.His80Asp						p.H80D	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			2	633	-		Prostate(69;0.0352)	80					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.238C>G	CCDS12630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400039|3.400039	0.62177|0.62177	.|.	.|.	ENSG00000104783|ENSG00000104783	ENST00000262888|ENST00000407385	D|.	0.99907|.	-7.79|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Potassium channel, calcium-activated, SK, conserved region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.72269|.	0.3439|.	M|M	0.73962|0.73962	2.25|2.25	0.54753|0.54753	D|D	0.999989|0.999989	D|.	0.61697|.	0.99|.	P|.	0.62089|.	0.898|.	T|.	0.75969|.	-0.3130|.	10|.	0.87932|0.62326	D|D	0|0.03	-18.4681|-18.4681	11.8767|11.8767	0.52552|0.52552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	O15554|.	KCNN4_HUMAN|.	D|X	80|18	ENSP00000262888:H80D|.	ENSP00000262888:H80D|ENSP00000384427:S18X	H|S	-|-	1|2	0|0	KCNN4|KCNN4	48972550|48972550	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.782000|0.782000	0.44232|0.44232	8.720000|8.720000	0.91442|0.91442	1.711000|1.711000	0.51337|0.51337	0.549000|0.549000	0.68633|0.68633	CAT|TCA		0.592	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		32	225	0	0	0	1	0	32	225				
NPIPB6	728741	broad.mit.edu	37	16	28354107	28354107	+	Missense_Mutation	SNP	C	C	T	rs543198032		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:28354107C>T	ENST00000532254.1	-	7	1784	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	NPIPB6_ENST00000533640.1_Missense_Mutation_p.E349K	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	367																	TGTTCCACctcatccaccctc	0.557																																						ENST00000532254.1																			0											c.(1099-1101)Gag>Aag		nuclear pore complex interacting protein family, member B6																																				SO:0001583	missense	728741							g.chr16:28354107C>T		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.1099G>A	16.37:g.28354107C>T	ENSP00000431871:p.Glu367Lys					NPIPB6_ENST00000533640.1_Missense_Mutation_p.E349K	p.E367K							7	1784	-									Missense_Mutation	SNP	ENST00000532254.1	37	c.1099G>A		.	.	.	.	.	.	.	.	.	.	-	6.494	0.459409	0.12342	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.57273	0.41;0.41	.	.	.	.	.	.	.	.	T	0.33498	0.0865	N	0.19112	0.55	0.09310	N	1	B;B	0.20459	0.045;0.012	B;B	0.23574	0.047;0.01	T	0.24621	-1.0155	7	0.41790	T	0.15	.	.	.	.	.	367;349	E9PJ23;E9PS57	.;.	K	349;367	ENSP00000435924:E349K;ENSP00000431871:E367K	ENSP00000431871:E367K	E	-	1	0	RP11-57A19.3	28261608	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	GAG		0.557	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		5	77	0	0	0	1	0	5	77				
TRIB3	57761	broad.mit.edu	37	20	372045	372045	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:372045T>C	ENST00000217233.3	+	3	959	c.406T>C	c.(406-408)Ttt>Ctt	p.F136L	TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCTCTACGCCTTTTTCACTCG	0.672																																					Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(406-408)Ttt>Ctt		tribbles pseudokinase 3							46.0	41.0	43.0					20																	372045		2203	4300	6503	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:372045T>C	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.406T>C	20.37:g.372045T>C	ENSP00000217233:p.Phe136Leu					TRIB3_ENST00000422053.2_Missense_Mutation_p.F163L	p.F136L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	3	959	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	136			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.406T>C	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243577	0.39697	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.18657	2.2;2.26;2.2	5.24	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132959	0.35179	N	0.003396	T	0.17619	0.0423	L	0.42744	1.35	0.43122	D	0.994847	P;B	0.36753	0.568;0.414	B;B	0.33690	0.168;0.168	T	0.02975	-1.1087	10	0.52906	T	0.07	-8.7089	10.5208	0.44918	0.0:0.0:0.1628:0.8372	.	163;136	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	136;136;163	ENSP00000217233:F136L;ENSP00000391873:F136L;ENSP00000415416:F163L	ENSP00000217233:F136L	F	+	1	0	TRIB3	320045	1.000000	0.71417	0.782000	0.31804	0.224000	0.24922	4.099000	0.57755	0.984000	0.38629	0.459000	0.35465	TTT		0.672	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		4	284	0	0	0	1	0	4	284				
OR4A15	81328	broad.mit.edu	37	11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T	rs374555766		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:55135883C>T	ENST00000314706.3	+	1	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(523-525)gCg>gTg		olfactory receptor, family 4, subfamily A, member 15		C	VAL/ALA	0,4402		0,0,2201	230.0	206.0	214.0		524	0.9	0.0	11		214	1,8591		0,1,4295	no	missense	OR4A15	NM_001005275.1	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	175/345	55135883	1,12993	2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135883C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.524C>T	11.37:g.55135883C>T	ENSP00000325065:p.Ala175Val						p.A175V	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	524	+			175					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.524C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.404654	0.00195	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.36878	1.23	3.48	0.889	0.19212	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09261	N	0.826617	T	0.13329	0.0323	N	0.05031	-0.125	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31558	-0.9939	10	0.02654	T	1	.	4.4129	0.11441	0.0:0.1165:0.4033:0.4802	.	175	Q8NGL6	O4A15_HUMAN	V	175	ENSP00000325065:A175V	ENSP00000325065:A175V	A	+	2	0	OR4A15	54892459	0.000000	0.05858	0.028000	0.17463	0.200000	0.23975	-0.127000	0.10547	0.012000	0.14892	-0.487000	0.04747	GCG		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		6	778	0	0	0	1	0	6	778				
ABCA10	10349	broad.mit.edu	37	17	67183986	67183986	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:67183986C>A	ENST00000269081.4	-	20	3075	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	722					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATTTCTTGTCACATGTATTT	0.348																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2164-2166)gtG>gtT		ATP-binding cassette, sub-family A (ABC1), member 10							153.0	145.0	147.0					17																	67183986		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67183986C>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2166G>T	17.37:g.67183986C>A						ABCA10_ENST00000416101.2_3'UTR	p.V722V	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			20	3075	-	Breast(10;6.95e-12)		722					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.2166G>T	CCDS11684.1																																																																																				0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		29	177	1	0	1.74807e-11	1	1.89307e-11	29	177				
ZNF484	83744	broad.mit.edu	37	9	95609448	95609448	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:95609448T>A	ENST00000375495.3	-	5	1769	c.1621A>T	c.(1621-1623)Ata>Tta	p.I541L	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.I543L|ZNF484_ENST00000395505.2_Missense_Mutation_p.I505L|ZNF484_ENST00000332591.6_Missense_Mutation_p.I505L	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTCTGATGTATCCTGAGCCGA	0.398																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(1513-1515)Ata>Tta		zinc finger protein 484							174.0	173.0	173.0					9																	95609448		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95609448T>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1621A>T	9.37:g.95609448T>A	ENSP00000364645:p.Ile541Leu					ZNF484_ENST00000332591.6_Missense_Mutation_p.I505L|ZNF484_ENST00000375495.3_Missense_Mutation_p.I541L|ZNF484_ENST00000395506.3_Missense_Mutation_p.I543L|ANKRD19P_ENST00000473204.1_RNA	p.I505L	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	1605	-			541					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.1513A>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.865541	0.32977	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	2.24	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12178	0.0296	N	0.20574	0.59	0.23533	N	0.997479	D;D	0.63880	0.993;0.993	D;D	0.76071	0.987;0.987	T	0.30909	-0.9962	9	0.17832	T	0.49	.	8.3656	0.32385	0.0:0.0:0.0:1.0	.	543;541	B4DRI2;Q5JVG2	.;ZN484_HUMAN	L	505;543;541;505	ENSP00000378881:I505L;ENSP00000378882:I543L;ENSP00000364645:I541L;ENSP00000364646:I505L	ENSP00000364646:I505L	I	-	1	0	ZNF484	94649269	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.348000	0.20031	1.274000	0.44362	0.372000	0.22366	ATA		0.398	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		6	808	0	0	0	1	0	6	808				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		5	223	0	0	0	1	0	5	223				
TAOK1	57551	broad.mit.edu	37	17	27807459	27807459	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27807459A>T	ENST00000261716.3	+	7	1042	c.523A>T	c.(523-525)Atg>Ttg	p.M175L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTCTGCTTCCATGGCATCACC	0.418																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(523-525)Atg>Ttg		TAO kinase 1							106.0	92.0	96.0					17																	27807459		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27807459A>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.523A>T	17.37:g.27807459A>T	ENSP00000261716:p.Met175Leu					TAOK1_ENST00000536202.1_Missense_Mutation_p.M175L	p.M175L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		7	1042	+			175			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.523A>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610191	0.46527	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.63417	-0.04;-0.04	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081007	0.85682	D	0.000000	T	0.39226	0.1070	N	0.02973	-0.45	0.42825	D	0.994006	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.27640	-1.0068	10	0.31617	T	0.26	.	15.3559	0.74425	1.0:0.0:0.0:0.0	.	175;1;175	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	L	175	ENSP00000261716:M175L;ENSP00000438819:M175L	ENSP00000261716:M175L	M	+	1	0	TAOK1	24831585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.169000	0.77578	2.100000	0.63781	0.477000	0.44152	ATG		0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		4	169	0	0	0	1	0	4	169				
GALNT1	2589	broad.mit.edu	37	18	33289706	33289706	+	Missense_Mutation	SNP	G	G	A	rs368892040		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:33289706G>A	ENST00000269195.5	+	11	1755	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	551	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGGCTTCTTCGAAACGTCACC	0.453																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1651-1653)cGa>cAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)		G	GLN/ARG	0,4406		0,0,2203	63.0	60.0	61.0		1652	5.6	1.0	18		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT1	NM_020474.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	551/560	33289706	1,13005	2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33289706G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1652G>A	18.37:g.33289706G>A	ENSP00000269195:p.Arg551Gln					GALNT1_ENST00000537549.1_Missense_Mutation_p.R491Q	p.R551Q	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			11	1755	+			551			Ricin B-type lectin.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.1652G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767083	0.49574	0.0	1.16E-4	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.78003	-1.14;-1.14	5.59	5.59	0.84812	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	N	0.12182	0.205	0.80722	D	1	B	0.18166	0.026	B	0.06405	0.002	T	0.59558	-0.7432	10	0.41790	T	0.15	.	17.0846	0.86608	0.0:0.0:1.0:0.0	.	551	Q10472	GALT1_HUMAN	Q	551;551;491	ENSP00000269195:R551Q;ENSP00000440910:R491Q	ENSP00000269195:R551Q	R	+	2	0	GALNT1	31543704	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.556000	0.98127	2.622000	0.88805	0.637000	0.83480	CGA		0.453	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		29	153	0	0	0	1	0	29	153				
SCN3A	6328	broad.mit.edu	37	2	165953881	165953881	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:165953881C>A	ENST00000360093.3	-	23	4611	c.4120G>T	c.(4120-4122)Gac>Tac	p.D1374Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1374					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACTAATGTCAAACATGTTA	0.423																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4120-4122)Gac>Tac		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						140.0	122.0	128.0					2																	165953881		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953881C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4120G>T	2.37:g.165953881C>A	ENSP00000353206:p.Asp1374Tyr					SCN3A_ENST00000283254.7_Missense_Mutation_p.D1374Y|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1325Y	p.D1374Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			23	4611	-			1374					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4120G>T		.	.	.	.	.	.	.	.	.	.	C	15.01	2.705927	0.48412	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96522	-4.04;-4.04;-3.98;-3.8	5.72	1.94	0.25998	Ion transport (1);	0.992515	0.08199	N	0.982552	D	0.97470	0.9172	M	0.80332	2.49	0.80722	D	1	P;P;B;B;P	0.41910	0.764;0.642;0.25;0.25;0.722	P;B;B;B;P	0.58130	0.833;0.353;0.173;0.173;0.743	D	0.92897	0.6336	10	0.72032	D	0.01	.	6.9439	0.24508	0.0:0.6271:0.1154:0.2575	.	1374;1325;1325;1325;1374	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1374;1374;1325;1325	ENSP00000353206:D1374Y;ENSP00000283254:D1374Y;ENSP00000386726:D1325Y;ENSP00000403348:D1325Y	ENSP00000283254:D1374Y	D	-	1	0	SCN3A	165662127	1.000000	0.71417	0.488000	0.27440	0.504000	0.33889	1.422000	0.34826	0.149000	0.19098	-0.812000	0.03155	GAC		0.423	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		39	247	1	0	1.30998e-17	1	1.4521e-17	39	247				
FAM105A	54491	broad.mit.edu	37	5	14610393	14610393	+	Silent	SNP	C	C	T	rs200729060	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:14610393C>T	ENST00000274217.3	+	8	1161	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	347	OTU.							p.N347N(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGACCGAGAACGACCGCCACT	0.532													C|||	2	0.000399361	0.0	0.0	5008	,	,		15262	0.0		0.001	False		,,,				2504	0.001					ENST00000274217.3																			1	Substitution - coding silent(1)	p.N347N(1)	lung(1)	large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1039-1041)aaC>aaT		family with sequence similarity 105, member A							45.0	48.0	47.0					5																	14610393		2203	4300	6503	SO:0001819	synonymous_variant	54491							g.chr5:14610393C>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.1041C>T	5.37:g.14610393C>T							p.N347N	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			8	1161	+	Lung NSC(4;0.00592)		347					Q53H50|Q9H037	Silent	SNP	ENST00000274217.3	37	c.1041C>T	CCDS3884.1																																																																																				0.532	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		36	385	0	0	0	1	0	36	385				
KIF26B	55083	broad.mit.edu	37	1	245318761	245318761	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:245318761C>T	ENST00000407071.2	+	1	475	c.35C>T	c.(34-36)gCg>gTg	p.A12V		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	12					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGAGGCTTGCGGTCTCCACC	0.567																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(34-36)gCg>gTg		kinesin family member 26B							53.0	62.0	59.0					1																	245318761		1888	4115	6003	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245318761C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.35C>T	1.37:g.245318761C>T	ENSP00000385545:p.Ala12Val						p.A12V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		1	475	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		12					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.35C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119533	0.94385	.	.	ENSG00000162849	ENST00000407071	T	0.78481	-1.18	5.17	5.17	0.71159	.	.	.	.	.	T	0.81351	0.4804	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.84531	0.0633	9	0.72032	D	0.01	.	18.6542	0.91445	0.0:1.0:0.0:0.0	.	12	Q2KJY2	KI26B_HUMAN	V	12	ENSP00000385545:A12V	ENSP00000385545:A12V	A	+	2	0	KIF26B	243385384	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.868000	0.56055	2.395000	0.81488	0.561000	0.74099	GCG		0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		15	80	0	0	0	1	0	15	80				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	169	0	0	0	1	0	4	169				
PTPRF	5792	broad.mit.edu	37	1	44069850	44069850	+	Silent	SNP	G	G	A	rs570067770		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44069850G>A	ENST00000359947.4	+	16	3367	c.3027G>A	c.(3025-3027)ccG>ccA	p.P1009P	PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.P999P(1)		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)				GGACCATGCCGGTGGAGCAAG	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		22254	0.0		0.001	False		,,,				2504	0.0					ENST00000359947.4																			1	Substitution - coding silent(1)	p.P999P(1)	lung(1)	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.(3025-3027)ccG>ccA		protein tyrosine phosphatase, receptor type, F							63.0	59.0	60.0					1																	44069850		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069850G>A	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.3027G>A	1.37:g.44069850G>A						PTPRF_ENST00000438120.1_Silent_p.P1000P|PTPRF_ENST00000422171.2_Silent_p.P357P|PTPRF_ENST00000372413.3_Silent_p.P1000P|PTPRF_ENST00000372414.3_Silent_p.P1009P|PTPRF_ENST00000496447.1_3'UTR	p.P1009P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			16	3367	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1009					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3027G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698940|-1.698940	0.00725|0.00725	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.92|4.92	-9.55|-9.55	0.00569|0.00569	.|.	.|.	.|.	.|.	.|.	T|T	0.32164|0.32164	0.0820|0.0820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	.|.	1.4878|1.4878	0.02451|0.02451	0.3792:0.1043:0.1405:0.376|0.3792:0.1043:0.1405:0.376	.|.	.|.	.|.	.|.	S|Q	423|655	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842437|43842437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.123000|0.123000	0.20343|0.20343	-3.041000|-3.041000	0.00632|0.00632	-1.978000|-1.978000	0.00993|0.00993	-4.209000|-4.209000	0.00009|0.00009	GGT|CGG		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	304	0	0	0	1	0	5	304				
RAD54L	8438	broad.mit.edu	37	1	46739341	46739341	+	Missense_Mutation	SNP	G	G	A	rs372456315		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46739341G>A	ENST00000371975.4	+	14	2206	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	511	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACCCGAAGCCGTAGCAGTGAC	0.542								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(1531-1533)cGt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	70.0	75.0	73.0		1532,1532	3.0	0.9	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAD54L	NM_003579.3,NM_001142548.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	511/748,511/748	46739341	1,13005	2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46739341G>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1532G>A	1.37:g.46739341G>A	ENSP00000361043:p.Arg511His					RAD54L_ENST00000442598.1_Missense_Mutation_p.R511H|RAD54L_ENST00000488942.1_3'UTR	p.R511H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	14	2206	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	511			Helicase C-terminal.		Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.1532G>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893653	0.52121	0.0	1.16E-4	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75367	-0.93;-0.93	4.94	2.99	0.34606	Helicase, C-terminal (1);	0.260402	0.43260	D	0.000586	T	0.55033	0.1895	N	0.17564	0.495	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.52328	-0.8590	10	0.45353	T	0.12	0.0048	7.8659	0.29537	0.0986:0.3489:0.5525:0.0	.	331;511	G3V1N0;Q92698	.;RAD54_HUMAN	H	511;511;331	ENSP00000396113:R511H;ENSP00000361043:R511H	ENSP00000361043:R511H	R	+	2	0	RAD54L	46511928	1.000000	0.71417	0.888000	0.34837	0.852000	0.48524	4.373000	0.59537	1.341000	0.45600	-0.259000	0.10710	CGT		0.542	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		4	159	0	0	0	1	0	4	159				
CTBP2	1488	broad.mit.edu	37	10	126682486	126682486	+	Silent	SNP	T	T	C	rs76949963	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:126682486T>C	ENST00000337195.5	-	8	1248	c.849A>G	c.(847-849)caA>caG	p.Q283Q	CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000309035.6_Silent_p.Q823Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2467-2469)caA>caG		C-terminal binding protein 2							94.0	97.0	96.0					10																	126682486		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682486T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.849A>G	10.37:g.126682486T>C						CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	p.Q823Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2599	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	283					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2469A>G	CCDS7643.1																																																																																				0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	867	0	0	0	1	0	10	867				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		12	97	0	0	0	1	0	12	97				
ADAMTS16	170690	broad.mit.edu	37	5	5235183	5235183	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:5235183A>G	ENST00000274181.7	+	13	2045	c.1907A>G	c.(1906-1908)aAc>aGc	p.N636S	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	636	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAGCTCTGCAACAGTCAGAAA	0.502																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1906-1908)aAc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							72.0	76.0	75.0					5																	5235183		1942	4134	6076	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235183A>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1907A>G	5.37:g.5235183A>G	ENSP00000274181:p.Asn636Ser					ADAMTS16_ENST00000513709.1_3'UTR	p.N636S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			13	2045	+			636			TSP type-1 1.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1907A>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595341	0.66219	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05319	3.46	4.67	2.19	0.27852	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.80422	2.495	0.58432	D	0.999993	P;P	0.50528	0.805;0.936	P;P	0.55713	0.492;0.782	T	0.00423	-1.1748	10	0.56958	D	0.05	.	6.7912	0.23701	0.7648:0.1522:0.083:0.0	.	636;636	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	636	ENSP00000274181:N636S	ENSP00000274181:N636S	N	+	2	0	ADAMTS16	5288183	1.000000	0.71417	0.986000	0.45419	0.793000	0.44817	4.860000	0.62961	0.243000	0.21327	0.533000	0.62120	AAC		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		39	392	0	0	0	1	0	39	392				
PEX19	5824	broad.mit.edu	37	1	160250012	160250012	+	Missense_Mutation	SNP	G	G	A	rs367813991		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:160250012G>A	ENST00000368072.5	-	6	640	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	PEX19_ENST00000440949.3_Missense_Mutation_p.R117W|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_Missense_Mutation_p.R60W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	207					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGATTCCCGATGACTCTGC	0.428																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(619-621)Cgg>Tgg		peroxisomal biogenesis factor 19							144.0	143.0	143.0					1																	160250012		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160250012G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.619C>T	1.37:g.160250012G>A	ENSP00000357051:p.Arg207Trp					DCAF8_ENST00000556710.1_Missense_Mutation_p.R60W|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.R117W	p.R207W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			BRCA - Breast invasive adenocarcinoma(70;0.111)		6	640	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.619C>T	CCDS1201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976964|3.976964	0.74360|0.74360	.|.	.|.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735|ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220|ENST00000495624	T;T|.	0.65549|.	-0.16;-0.16|.	5.66|5.66	4.69|4.69	0.59074|0.59074	.|.	0.360515|.	0.28052|.	N|.	0.016795|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.42245|0.42245	1.32|1.32	0.43025|0.43025	D|D	0.994581|0.994581	D;P|.	0.89917|.	1.0;0.953|.	P;B|.	0.59948|.	0.866;0.426|.	T|T	0.59726|0.59726	-0.7400|-0.7400	10|6	0.87932|0.87932	D|D	0|0	0.0173|0.0173	15.029|15.029	0.71691|0.71691	0.0:0.143:0.857:0.0|0.0:0.143:0.857:0.0	.|.	60;207|.	G3V3G9;P40855|.	.;PEX19_HUMAN|.	W|L	60;60;77;207;187;117;187|44	ENSP00000451989:R60W;ENSP00000451235:R60W|.	ENSP00000357051:R207W|ENSP00000435896:S158L	R|S	-|-	1|2	2|0	RP11-574F21.3;PEX19;DCAF8|PEX19	158516636|158516636	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.994000|0.994000	0.84299|0.84299	3.142000|3.142000	0.50601|0.50601	2.665000|2.665000	0.90641|0.90641	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.428	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		7	646	0	0	0	1	0	7	646				
MCF2L	23263	broad.mit.edu	37	13	113656268	113656268	+	Intron	SNP	C	C	A	rs376750519	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:113656268C>A	ENST00000375608.3	+	3	227				MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Missense_Mutation_p.A15E|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GACCTCTGGGCGCTGTGGCTG	0.756																																						ENST00000423482.2																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(43-45)gCg>gAg		MCF.2 cell line derived transforming sequence-like							8.0	11.0	10.0					13																	113656268		2144	4213	6357	SO:0001627	intron_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113656268C>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.170-12809C>A	13.37:g.113656268C>A						MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375597.4_Missense_Mutation_p.A15E|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.A15E|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron	p.A15E	NM_024979.4	NP_079255.4	O15068	MCF2L_HUMAN			1	238	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	0					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.44C>A		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634039	0.00806	.	.	ENSG00000126217	ENST00000423482;ENST00000375597;ENST00000397024	T;T	0.34472	1.36;1.41	3.64	0.132	0.14762	.	.	.	.	.	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.30149	-0.9988	9	0.02654	T	1	.	1.7401	0.02950	0.2206:0.4741:0.1739:0.1314	.	15;15	E9PDN8;O15068-4	.;.	E	15	ENSP00000405639:A15E;ENSP00000364747:A15E	ENSP00000364747:A15E	A	+	2	0	MCF2L	112704269	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.467000	0.06664	-0.090000	0.12462	-0.448000	0.05591	GCG		0.756	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			4	113	1	0	2.56e-06	1	2.68571e-06	4	113				
RIMS2	9699	broad.mit.edu	37	8	105026802	105026802	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:105026802G>A	ENST00000436393.2	+	17	2754	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	RIMS2_ENST00000507740.1_Missense_Mutation_p.R912Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAAGGGGCCGACAGCTTCCA	0.443										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2734-2736)cGa>cAa		regulating synaptic membrane exocytosis 2							72.0	78.0	76.0					8																	105026802		1923	4110	6033	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026802G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2513G>A	8.37:g.105026802G>A	ENSP00000390665:p.Arg838Gln	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.R838Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R937Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1098Q	p.R912Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2971	+			1160			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2735G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.726423	0.89298	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.57273	0.41;2.37;2.07;1.98;0.65;1.18	5.63	5.63	0.86233	.	.	.	.	.	T	0.68155	0.2970	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.974;0.996;0.993;0.996	T	0.69258	-0.5192	9	0.72032	D	0.01	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	1160;838;937;912;1098	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	1098;1135;1098;1160;937;912;912;838	ENSP00000427018:R1098Q;ENSP00000384892:R1098Q;ENSP00000262231:R937Q;ENSP00000423559:R912Q;ENSP00000386228:R912Q;ENSP00000390665:R838Q	ENSP00000262231:R937Q	R	+	2	0	RIMS2	105095978	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.175000	0.94831	2.652000	0.90054	0.591000	0.81541	CGA		0.443	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		24	178	0	0	0	1	0	24	178				
TBC1D32	221322	broad.mit.edu	37	6	121544428	121544428	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:121544428G>T	ENST00000398212.2	-	21	2484	c.2435C>A	c.(2434-2436)cCt>cAt	p.P812H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	812					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TGTTTTATTAGGAAGATCTTG	0.318																																						ENST00000275159.6																			0											c.(2434-2436)cCt>cAt		TBC1 domain family, member 32							105.0	98.0	100.0					6																	121544428		1815	4079	5894	SO:0001583	missense	221322							g.chr6:121544428G>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2435C>A	6.37:g.121544428G>T	ENSP00000381270:p.Pro812His					TBC1D32_ENST00000398212.2_Missense_Mutation_p.P812H|TBC1D32_ENST00000398197.2_5'UTR	p.P812H							21	2434	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2435C>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550957	0.65311	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.29397	1.57;1.57	5.64	4.78	0.61160	.	0.204155	0.51477	D	0.000082	T	0.43010	0.1228	M	0.71581	2.175	0.49798	D	0.999829	D;D	0.89917	0.997;1.0	P;D	0.74348	0.847;0.983	T	0.48364	-0.9042	10	0.72032	D	0.01	.	11.9792	0.53111	0.0818:0.0:0.9182:0.0	.	812;812	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	812	ENSP00000275159:P812H;ENSP00000381270:P812H	ENSP00000275159:P812H	P	-	2	0	C6orf170	121586127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.087000	0.50167	1.526000	0.49068	0.655000	0.94253	CCT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		30	238	1	0	9.39395e-14	1	1.03158e-13	30	238				
EVC	2121	broad.mit.edu	37	4	5798842	5798842	+	Silent	SNP	G	G	A	rs537471996	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:5798842G>A	ENST00000264956.6	+	14	2164	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	EVC_ENST00000382674.2_Silent_p.T660T|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	660					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCACCCTGACGCAGATGCGGC	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18527	0.0		0.0	False		,,,				2504	0.0					ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1978-1980)acG>acA		Ellis van Creveld syndrome							42.0	41.0	42.0					4																	5798842		2202	4300	6502	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5798842G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1980G>A	4.37:g.5798842G>A						EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.T660T	p.T660T			P57679	EVC_HUMAN			14	2164	+		Myeloproliferative disorder(84;0.117)	660						Silent	SNP	ENST00000264956.6	37	c.1980G>A	CCDS3383.1																																																																																				0.672	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			41	257	0	0	0	1	0	41	257				
NCDN	23154	broad.mit.edu	37	1	36029011	36029011	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:36029011G>A	ENST00000373243.2	+	5	1977	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	NCDN_ENST00000356090.4_Missense_Mutation_p.A532T|NCDN_ENST00000373253.3_Missense_Mutation_p.A515T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	532					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGTGGTCACCGCACCGGGGCT	0.627																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1594-1596)Gca>Aca		neurochondrin							60.0	60.0	60.0					1																	36029011		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36029011G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1594G>A	1.37:g.36029011G>A	ENSP00000362340:p.Ala532Thr					NCDN_ENST00000356090.4_Missense_Mutation_p.A532T|NCDN_ENST00000373253.3_Missense_Mutation_p.A515T	p.A532T	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			5	1977	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	532					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1594G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462772	0.84425	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.7	3.79	0.43588	.	0.063428	0.64402	D	0.000009	T	0.46190	0.1380	L	0.36672	1.1	0.42919	D	0.994287	D	0.57257	0.979	P	0.45913	0.497	T	0.46442	-0.9191	9	0.52906	T	0.07	.	11.7453	0.51817	0.0861:0.0:0.9139:0.0	.	532	Q9UBB6	NCDN_HUMAN	T	515;532;532	.	ENSP00000348394:A532T	A	+	1	0	NCDN	35801598	1.000000	0.71417	0.927000	0.36925	0.983000	0.72400	7.036000	0.76524	0.969000	0.38237	0.455000	0.32223	GCA		0.627	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		6	476	0	0	0	1	0	6	476				
PCDH7	5099	broad.mit.edu	37	4	30723222	30723222	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:30723222G>A	ENST00000361762.2	+	1	1186	c.178G>A	c.(178-180)Gga>Aga	p.G60R	PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATCGTGACCGGATCGGGTGA	0.677																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(178-180)Gga>Aga		protocadherin 7							56.0	50.0	52.0					4																	30723222		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723222G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.178G>A	4.37:g.30723222G>A	ENSP00000355243:p.Gly60Arg					PCDH7_ENST00000543491.1_Missense_Mutation_p.G60R	p.G60R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1186	+			60			Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.178G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021922	0.54576	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.26660	1.72;1.72	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.37758	0.1015	N	0.24115	0.695	0.42849	D	0.994078	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.68765	0.943;0.96;0.936	T	0.27123	-1.0083	9	0.51188	T	0.08	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	60;60;60	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	R	60	ENSP00000355243:G60R;ENSP00000441802:G60R	ENSP00000330302:G60R	G	+	1	0	PCDH7	30332320	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	9.650000	0.98490	2.364000	0.80123	0.305000	0.20034	GGA		0.677	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	230	0	0	0	1	0	4	230				
GNAL	2774	broad.mit.edu	37	18	11868565	11868565	+	Missense_Mutation	SNP	G	G	A	rs186859429		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:11868565G>A	ENST00000423027.3	+	9	1024	c.703G>A	c.(703-705)Gca>Aca	p.A235T	GNAL_ENST00000602628.1_Missense_Mutation_p.A28T|GNAL_ENST00000535121.1_Missense_Mutation_p.A235T|GNAL_ENST00000334049.6_Missense_Mutation_p.A312T|GNAL_ENST00000269162.5_Missense_Mutation_p.A235T			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	235					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CATTTACGTCGCAGCCTGCAG	0.468																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(934-936)Gca>Aca		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							172.0	147.0	156.0					18																	11868565		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11868565G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.703G>A	18.37:g.11868565G>A	ENSP00000408489:p.Ala235Thr					GNAL_ENST00000535121.1_Missense_Mutation_p.A235T|GNAL_ENST00000423027.3_Missense_Mutation_p.A235T|GNAL_ENST00000602628.1_Missense_Mutation_p.A28T|GNAL_ENST00000269162.5_Missense_Mutation_p.A235T|GNAL_ENST00000535980.1_3'UTR	p.A312T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			9	1542	+			235					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.934G>A	CCDS11852.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.73	3.204357	0.58234	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.91	5.91	0.95273	.	0.102632	0.64402	D	0.000002	D	0.84229	0.5426	N	0.16743	0.435	0.54753	D	0.999985	B;B	0.27997	0.197;0.042	B;B	0.32677	0.15;0.019	T	0.80388	-0.1403	10	0.46703	T	0.11	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	235;312	P38405;Q86XU3	GNAL_HUMAN;.	T	174;312;235;235;235;28	ENSP00000334051:A312T;ENSP00000439023:A235T;ENSP00000269162:A235T;ENSP00000408489:A235T	ENSP00000269162:A235T	A	+	1	0	GNAL	11858565	1.000000	0.71417	0.309000	0.25155	0.538000	0.34931	9.394000	0.97261	2.799000	0.96334	0.650000	0.86243	GCA		0.468	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		5	388	0	0	0	1	0	5	388				
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T	rs200405481		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																						ENST00000226284.5																			1	Substitution - coding silent(1)	p.S165S(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(493-495)agC>agT		integrin-binding sialoprotein							137.0	127.0	131.0					4																	88732603		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732603C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>T	4.37:g.88732603C>T							p.S165S	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	562	+		Hepatocellular(203;0.114)	165			Asp/Glu-rich (acidic).			Silent	SNP	ENST00000226284.5	37	c.495C>T	CCDS3624.1																																																																																				0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			16	105	0	0	0	1	0	16	105				
FLYWCH1	84256	broad.mit.edu	37	16	2979735	2979735	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:2979735G>A	ENST00000253928.9	+	3	454	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	17						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						TGTGAAGGCCGGCCAGGAGCC	0.692																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(49-51)Ggc>Agc		FLYWCH-type zinc finger 1							37.0	44.0	41.0					16																	2979735		2198	4299	6497	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2979735G>A	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.49G>A	16.37:g.2979735G>A	ENSP00000253928:p.Gly17Ser					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G17S|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.G17S	p.G17S			Q4VC44	FWCH1_HUMAN			3	412	+			17					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.49G>A		.	.	.	.	.	.	.	.	.	.	G	10.36	1.329821	0.24167	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.01	2.04	0.26737	.	.	.	.	.	T	0.15609	0.0376	N	0.19112	0.55	0.24293	N	0.995159	B;P	0.39060	0.105;0.657	B;B	0.32677	0.018;0.15	T	0.10042	-1.0647	8	0.38643	T	0.18	.	6.03	0.19675	0.1435:0.0:0.8565:0.0	.	17;17	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	S	17	.	ENSP00000253928:G17S	G	+	1	0	FLYWCH1	2919736	0.537000	0.26386	0.679000	0.29978	0.109000	0.19521	0.577000	0.23758	0.844000	0.35094	0.456000	0.33151	GGC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		4	124	0	0	0	1	0	4	124				
CIC	23152	broad.mit.edu	37	19	42799006	42799006	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42799006A>G	ENST00000575354.2	+	20	4530	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C	CIC_ENST00000572681.2_Missense_Mutation_p.Y2403C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGCCCGCTATGCAGACATC	0.587			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7207-7209)tAt>tGt		capicua transcriptional repressor							65.0	67.0	66.0					19																	42799006		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799006A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4490A>G	19.37:g.42799006A>G	ENSP00000458663:p.Tyr1497Cys					CIC_ENST00000575354.2_Missense_Mutation_p.Y1497C|CIC_ENST00000160740.3_Missense_Mutation_p.Y1495C	p.Y2403C			Q96RK0	CIC_HUMAN			21	7276	+		Prostate(69;0.00682)	1497					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7208A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155719	0.57259	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.42414	D	0.992613	D	0.69078	0.997	D	0.66847	0.947	T	0.58476	-0.7630	8	0.87932	D	0	-2.7629	9.5983	0.39587	0.8231:0.1768:0.0:0.0	.	1497	Q96RK0	CIC_HUMAN	C	1497	.	ENSP00000160740:Y1497C	Y	+	2	0	CIC	47490846	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	4.776000	0.62354	0.845000	0.35118	0.402000	0.26972	TAT		0.587	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			55	486	0	0	0	1	0	55	486				
TMEM255A	55026	broad.mit.edu	37	X	119394769	119394769	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:119394769G>C	ENST00000309720.5	-	10	1129	c.1006C>G	c.(1006-1008)Ccc>Gcc	p.P336A	TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371369.4_Missense_Mutation_p.P312A	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	336	Pro-rich.					integral component of membrane (GO:0016021)											GGATAGTAGGGTGGAGAGTAA	0.517																																						ENST00000371369.4																			0											c.(934-936)Ccc>Gcc		transmembrane protein 255A							130.0	107.0	115.0					X																	119394769		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119394769G>C	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.1006C>G	X.37:g.119394769G>C	ENSP00000310110:p.Pro336Ala					TMEM255A_ENST00000440464.1_Missense_Mutation_p.P228A|TMEM255A_ENST00000371352.1_Missense_Mutation_p.P172A|TMEM255A_ENST00000309720.5_Missense_Mutation_p.P336A	p.P312A	NM_001104544.1	NP_001098014.1					9	1160	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.934C>G	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.904059	0.33628	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352;ENST00000440464	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	N	0.17312	0.475	0.40788	D	0.98323	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.994;0.996;0.996	T	0.51442	-0.8705	10	0.36615	T	0.2	-19.3739	17.6499	0.88161	0.0:0.0:1.0:0.0	.	228;312;336	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	A	336;312;172;228	ENSP00000310110:P336A;ENSP00000360420:P312A;ENSP00000360403:P172A;ENSP00000405781:P228A	ENSP00000310110:P336A	P	-	1	0	FAM70A	119278797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.370000	0.90120	2.471000	0.83476	0.600000	0.82982	CCC		0.517	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		4	193	0	0	0	1	0	4	193				
F5	2153	broad.mit.edu	37	1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220.0	242.0	235.0					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	1475	0	0	0	1	0	9	1475				
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	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)		gcagcagcagcagtagcagca	0.602																																						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.(1870-1872)agC>agT		enhancer of mRNA decapping 4							36.0	33.0	34.0					16																	67913803		2193	4282	6475	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913803C>T	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.1872C>T	16.37:g.67913803C>T							p.S624S	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	2111	+		Ovarian(137;0.0563)	624			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1872C>T	CCDS10849.1																																																																																				0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	325	0	0	0	1	0	6	325				
PLXNA2	5362	broad.mit.edu	37	1	208257827	208257827	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:208257827G>A	ENST00000367033.3	-	10	2953	c.2196C>T	c.(2194-2196)tcC>tcT	p.S732S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	732					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCGCTGGCCGGACTGCGGCT	0.592																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2194-2196)tcC>tcT		plexin A2							79.0	82.0	81.0					1																	208257827		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208257827G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2196C>T	1.37:g.208257827G>A							p.S732S	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	10	2953	-			732					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.2196C>T	CCDS31013.1																																																																																				0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	484	0	0	0	1	0	6	484				
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T	rs370794960		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149									tubulin, beta pseudogene 5																		GGTACGTGCCCCGCGCTGTGC	0.711																																						ENST00000503395.1																			0																																																			0							g.chr9:141070069C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070069C>T														0	1149	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.711	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		7	284	0	0	0	1	0	7	284				
IGSF22	283284	broad.mit.edu	37	11	18736985	18736985	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:18736985C>G	ENST00000513874.1	-	11	1664	c.1525G>C	c.(1525-1527)Gtg>Ctg	p.V509L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	509										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTACCCTCCACAGTGACGATG	0.547																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1525-1527)Gtg>Ctg		immunoglobulin superfamily, member 22							114.0	116.0	116.0					11																	18736985		2152	4249	6401	SO:0001583	missense	283284							g.chr11:18736985C>G	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1525G>C	11.37:g.18736985C>G	ENSP00000421191:p.Val509Leu					RP11-1081L13.4_ENST00000527285.1_RNA	p.V509L	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			11	1664	-			509					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1525G>C	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	1.041	-0.678902	0.03378	.	.	ENSG00000179057	ENST00000513874	T	0.13307	2.6	4.92	2.03	0.26663	.	0.203922	0.24126	N	0.041315	T	0.11110	0.0271	L	0.50333	1.59	0.19945	N	0.999945	B	0.34015	0.435	B	0.24974	0.057	T	0.14615	-1.0466	10	0.62326	D	0.03	.	8.4726	0.32995	0.0:0.7586:0.0:0.2414	.	509	D6RGV7	.	L	509	ENSP00000421191:V509L	ENSP00000322422:V509L	V	-	1	0	IGSF22	18693561	0.998000	0.40836	0.291000	0.24904	0.028000	0.11728	2.788000	0.47806	0.143000	0.18926	0.555000	0.69702	GTG		0.547	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		68	462	0	0	0	1	0	68	462				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		10	87	0	0	0	1	0	10	87				
INTS3	65123	broad.mit.edu	37	1	153723618	153723618	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:153723618C>T	ENST00000318967.2	+	7	1200	c.632C>T	c.(631-633)aCg>aTg	p.T211M	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000456435.1_Missense_Mutation_p.T5M|RP11-216N14.8_ENST00000453778.1_RNA|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	212					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGTTTACACGTACCTCCGC	0.567																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(13-15)aCg>aTg		integrator complex subunit 3							142.0	109.0	120.0					1																	153723618		2203	4300	6503	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153723618C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.632C>T	1.37:g.153723618C>T	ENSP00000318641:p.Thr211Met					RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.T211M|INTS3_ENST00000435409.2_Missense_Mutation_p.T211M|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000512605.1_Missense_Mutation_p.T5M|INTS3_ENST00000476843.1_3'UTR	p.T5M			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1200	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		212					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.14C>T	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844025	0.91197	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.81341	2.54	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.985;0.994	T	0.79783	-0.1658	9	0.87932	D	0	.	15.7443	0.77926	0.0:1.0:0.0:0.0	.	5;212;211	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	M	211;5;211;5	.	ENSP00000318641:T211M	T	+	2	0	INTS3	151990242	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	7.039000	0.76544	2.570000	0.86706	0.555000	0.69702	ACG		0.567	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		12	154	0	0	0	1	0	12	154				
DHX35	60625	broad.mit.edu	37	20	37623503	37623503	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:37623503T>C	ENST00000252011.3	+	8	655	c.622T>C	c.(622-624)Tca>Cca	p.S208P	DHX35_ENST00000373323.4_Missense_Mutation_p.S177P|DHX35_ENST00000373325.2_Missense_Mutation_p.S208P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	208	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GATTGTAGCTTCAGCCACTCT	0.408																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(622-624)Tca>Cca		DEAH (Asp-Glu-Ala-His) box polypeptide 35							159.0	147.0	151.0					20																	37623503		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37623503T>C	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.622T>C	20.37:g.37623503T>C	ENSP00000252011:p.Ser208Pro					DHX35_ENST00000373325.2_Missense_Mutation_p.S208P|DHX35_ENST00000373323.4_Missense_Mutation_p.S177P	p.S208P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			8	655	+		Myeloproliferative disorder(115;0.00878)	208			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.622T>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039783	0.93630	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.86	5.86	0.93980	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.72114	-0.4388	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	177;208	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	P	208;208;177;173	ENSP00000362422:S208P;ENSP00000252011:S208P;ENSP00000362420:S177P;ENSP00000414630:S173P	ENSP00000252011:S208P	S	+	1	0	DHX35	37056917	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.820000	0.86633	2.367000	0.80283	0.528000	0.53228	TCA		0.408	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		5	505	0	0	0	1	0	5	505				
OR5K3	403277	broad.mit.edu	37	3	98109887	98109887	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:98109887A>G	ENST00000383695.1	+	1	378	c.378A>G	c.(376-378)atA>atG	p.I126M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGTGGCCATATGCAACCCAC	0.478																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(376-378)atA>atG		olfactory receptor, family 5, subfamily K, member 3							172.0	162.0	165.0					3																	98109887		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109887A>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.378A>G	3.37:g.98109887A>G	ENSP00000373194:p.Ile126Met					RP11-325B23.2_ENST00000508616.1_lincRNA	p.I126M	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	378	+			126						Missense_Mutation	SNP	ENST00000383695.1	37	c.378A>G	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056919	0.55325	.	.	ENSG00000206536	ENST00000383695	T	0.59083	0.29	5.15	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.331813	0.21303	N	0.076767	T	0.80082	0.4558	H	0.98238	4.18	0.25262	N	0.98958	D	0.89917	1.0	D	0.97110	1.0	T	0.70894	-0.4748	10	0.87932	D	0	-61.4606	8.1546	0.31160	0.2367:0.5363:0.0:0.2271	.	126	A6NET4	OR5K3_HUMAN	M	126	ENSP00000373194:I126M	ENSP00000373194:I126M	I	+	3	3	OR5K3	99592577	0.004000	0.15560	0.808000	0.32385	0.947000	0.59692	-1.359000	0.02602	-0.708000	0.05015	0.491000	0.48974	ATA		0.478	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			144	498	0	0	0	1	0	144	498				
HIVEP1	3096	broad.mit.edu	37	6	12121002	12121002	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:12121002T>C	ENST00000379388.2	+	4	1306	c.974T>C	c.(973-975)gTt>gCt	p.V325A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	325					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGAACAGGTTTATAATATA	0.423																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(973-975)gTt>gCt		human immunodeficiency virus type I enhancer binding protein 1							112.0	105.0	107.0					6																	12121002		1937	4138	6075	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121002T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.974T>C	6.37:g.12121002T>C	ENSP00000368698:p.Val325Ala						p.V325A	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	1306	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	325					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.974T>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762438	0.31228	.	.	ENSG00000095951	ENST00000379388	T	0.08370	3.1	5.69	5.69	0.88448	.	0.511841	0.14674	N	0.305158	T	0.03434	0.0099	L	0.31926	0.97	0.80722	D	1	B	0.16166	0.016	B	0.15484	0.013	T	0.41893	-0.9483	9	.	.	.	-8.7034	15.942	0.79763	0.0:0.0:0.0:1.0	.	325	P15822	ZEP1_HUMAN	A	325	ENSP00000368698:V325A	.	V	+	2	0	HIVEP1	12228988	0.950000	0.32346	0.071000	0.20095	0.594000	0.36715	2.109000	0.41863	2.162000	0.67917	0.533000	0.62120	GTT		0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		91	477	0	0	0	1	0	91	477				
ADRA1A	148	broad.mit.edu	37	8	26627753	26627753	+	Silent	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:26627753G>T	ENST00000380573.3	-	3	2337	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000276393.4_Silent_p.P438P			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGGGGTTGAGGGCCCTACAC	0.522																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1312-1314)ccC>ccA		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						176.0	173.0	174.0					8																	26627753		2203	4300	6503	SO:0001819	synonymous_variant	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627753G>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380573.3:c.1314C>A	8.37:g.26627753G>T						ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Silent_p.P438P|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron	p.P438P			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2337	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	438					Q9NPY0	Silent	SNP	ENST00000380573.3	37	c.1314C>A	CCDS6054.1																																																																																				0.522	ADRA1A-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376208.1	NM_033303		6	733	1	0	0.0215528	1	0.0217378	6	733				
PLG	5340	broad.mit.edu	37	6	161134091	161134091	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:161134091G>A	ENST00000308192.9	+	5	544	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTG	0.478																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59	GRCh37	CM068074	PLG	M		c.(481-483)Ggg>Agg		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						142.0	139.0	140.0					6																	161134091		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134091G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.481G>A	6.37:g.161134091G>A	ENSP00000308938:p.Gly161Arg					PLG_ENST00000462918.1_3'UTR	p.G161R	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	544	+			161			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.481G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725582	0.68959	.	.	ENSG00000122194	ENST00000308192	T	0.63580	-0.05	5.11	5.11	0.69529	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.39475	U	0.001351	T	0.60792	0.2296	M	0.65975	2.015	0.80722	D	1	P	0.40731	0.728	P	0.45037	0.467	T	0.68153	-0.5484	10	0.87932	D	0	.	17.6597	0.88188	0.0:0.0:1.0:0.0	.	161	P00747	PLMN_HUMAN	R	161	ENSP00000308938:G161R	ENSP00000308938:G161R	G	+	1	0	PLG	161054081	1.000000	0.71417	0.825000	0.32803	0.207000	0.24258	9.065000	0.93941	2.541000	0.85698	0.650000	0.86243	GGG		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	625	0	0	0	1	0	5	625				
CSMD2	114784	broad.mit.edu	37	1	34401481	34401481	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:34401481C>T	ENST00000373381.4	-	4	768	c.592G>A	c.(592-594)Ggt>Agt	p.G198S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	158	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTTGTCACCGAGGTTGAAG	0.597																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(592-594)Ggt>Agt		CUB and Sushi multiple domains 2							122.0	112.0	116.0					1																	34401481		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34401481C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.592G>A	1.37:g.34401481C>T	ENSP00000362479:p.Gly198Ser						p.G198S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			4	768	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	158			Sushi 1.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.592G>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337261	0.81911	.	.	ENSG00000121904	ENST00000373381	T	0.72394	-0.65	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85579	0.5729	M	0.87971	2.92	0.80722	D	1	B;D	0.89917	0.241;1.0	B;D	0.65010	0.094;0.931	D	0.88169	0.2863	10	0.72032	D	0.01	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	158;198	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	198	ENSP00000362479:G198S	ENSP00000241312:G158S	G	-	1	0	CSMD2	34174068	1.000000	0.71417	0.575000	0.28536	0.940000	0.58332	7.733000	0.84916	2.439000	0.82584	0.563000	0.77884	GGT		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		66	520	0	0	0	1	0	66	520				
CACNA1I	8911	broad.mit.edu	37	22	40015365	40015365	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40015365G>A	ENST00000402142.3	+	4	533	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	178					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCCATCCGCACCGTGCGC	0.617																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(532-534)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						113.0	115.0	115.0					22																	40015365		2187	4282	6469	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40015365G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.533G>A	22.37:g.40015365G>A	ENSP00000385019:p.Arg178His					CACNA1I_ENST00000401624.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R178H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R178H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R178H	p.R178H			Q9P0X4	CAC1I_HUMAN			6	533	+	Melanoma(58;0.0749)		178					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.533G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	-	22.5	4.298716	0.81025	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.98594	4.275	0.50313	D	0.99986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	D	0.97964	1.0339	10	0.59425	D	0.04	.	17.3138	0.87217	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	178	ENSP00000385019:R178H;ENSP00000384093:R178H;ENSP00000383887:R178H;ENSP00000385680:R178H;ENSP00000337829:R178H;ENSP00000383028:R178H	ENSP00000337829:R178H	R	+	2	0	CACNA1I	38345311	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	8.996000	0.93539	2.405000	0.81733	0.556000	0.70494	CGC		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	656	0	0	0	1	0	7	656				
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A	rs185815738	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82.0	86.0	85.0					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	819	0	0	0	1	0	10	819				
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G	rs556090358	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:1266085C>G	ENST00000529681.1	+	31	8033	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2662A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|P -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617													C|||	60	0.0119808	0.0174	0.0072	5008	,	,		19640	0.0		0.0209	False		,,,				2504	0.0112					ENST00000447027.1																			1	Substitution - Missense(1)	p.P2638A(1)	skin(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7984-7986)Ccc>Gcc		mucin 5B, oligomeric mucus/gel-forming							98.0	124.0	116.0					11																	1266085		2044	4160	6204	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266085C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7975C>G	11.37:g.1266085C>G	ENSP00000436812:p.Pro2659Ala					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A	p.P2662A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8042	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2659	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7984C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355741	0.01245	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21361	2.01;2.2	2.53	-5.06	0.02946	.	.	.	.	.	T	0.12987	0.0315	L	0.41710	1.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	9	0.87932	D	0	.	1.5835	0.02639	0.3418:0.1308:0.3464:0.181	.	3297;2662	A7Y9J9;E9PBJ0	.;.	A	2659;2662;2631;2674	ENSP00000436812:P2659A;ENSP00000415793:P2662A	ENSP00000343037:P2631A	P	+	1	0	MUC5B	1222661	0.591000	0.26824	0.000000	0.03702	0.025000	0.11179	0.025000	0.13577	-4.187000	0.00066	-0.982000	0.02568	CCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	196	0	0	0	1	0	4	196				
OLFML2B	25903	broad.mit.edu	37	1	161953822	161953822	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:161953822G>A	ENST00000294794.3	-	8	2319	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	OLFML2B_ENST00000367940.2_Silent_p.I633I|OLFML2B_ENST00000367938.1_Silent_p.I115I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	632	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGCCGGGTAGATGAGCCATA	0.617																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1894-1896)atC>atT		olfactomedin-like 2B							71.0	62.0	65.0					1																	161953822		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953822G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1896C>T	1.37:g.161953822G>A						OLFML2B_ENST00000367938.1_Silent_p.I115I|OLFML2B_ENST00000367940.2_Silent_p.I633I	p.I632I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2319	-	all_hematologic(112;0.156)		632			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1896C>T	CCDS1236.1																																																																																				0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		50	262	0	0	0	1	0	50	262				
TMEM245	23731	broad.mit.edu	37	9	111812948	111812948	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:111812948T>C	ENST00000374586.3	-	13	1910	c.1879A>G	c.(1879-1881)Atg>Gtg	p.M627V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	627						integral component of membrane (GO:0016021)											TTCCGGCTCATAACGATCCAC	0.463																																						ENST00000374586.3																			0											c.(1879-1881)Atg>Gtg		transmembrane protein 245							104.0	102.0	103.0					9																	111812948		2006	4178	6184	SO:0001583	missense	23731					integral to membrane		g.chr9:111812948T>C	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1879A>G	9.37:g.111812948T>C	ENSP00000363714:p.Met627Val						p.M627V	NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN			13	1910	-			627					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1879A>G	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.89|12.89	2.072964|2.072964	0.36566|0.36566	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	T|.	0.39229|.	1.09|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30386|0.30386	0.0763|0.0763	N|N	0.01668|0.01668	-0.77|-0.77	0.51233|0.51233	D|D	0.999915|0.999915	D;D|.	0.59357|.	0.982;0.985|.	D;D|.	0.72338|.	0.961;0.977|.	T|T	0.36648|0.36648	-0.9739|-0.9739	10|5	0.10902|.	T|.	0.67|.	-33.0733|-33.0733	16.2141|16.2141	0.82191|0.82191	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	627;627|.	Q9H330-2;Q9H330|.	.;CI005_HUMAN|.	V|C	627|219	ENSP00000363714:M627V|.	ENSP00000223608:M627V|.	M|Y	-|-	1|2	0|0	C9orf5|C9orf5	110852769|110852769	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.888000|0.888000	0.51559|0.51559	6.262000|6.262000	0.72514|0.72514	2.224000|2.224000	0.72417|0.72417	0.528000|0.528000	0.53228|0.53228	ATG|TAT		0.463	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		6	232	0	0	0	1	0	6	232				
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					ENST00000400372.1																			2	Substitution - coding silent(2)	p.C205C(2)	lung(1)|prostate(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(613-615)tgT>tgC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						TSPEAR_ENST00000323084.4_Intron	p.C205C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	640	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			7	1152	0	0	0	1	0	7	1152				
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	rs398123018		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105.0	112.0	110.0					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		6	930	0	0	0	1	0	6	930				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	734	0	0	0	1	0	8	734				
HELZ2	85441	broad.mit.edu	37	20	62198297	62198297	+	Missense_Mutation	SNP	G	G	A	rs192208869	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:62198297G>A	ENST00000467148.1	-	6	2483	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A236V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	805	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GACGACCTGCGCAATCTCAGC	0.672													G|||	5	0.000998403	0.0	0.0072	5008	,	,		16567	0.0		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(2413-2415)gCg>gTg		helicase with zinc finger 2, transcriptional coactivator							62.0	56.0	58.0					20																	62198297		2202	4297	6499	SO:0001583	missense	85441							g.chr20:62198297G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2414C>T	20.37:g.62198297G>A	ENSP00000417401:p.Ala805Val					HELZ2_ENST00000427522.2_Missense_Mutation_p.A236V	p.A805V	NM_001037335.2	NP_001032412.2					6	2483	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2414C>T	CCDS33508.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	G	0.007	-1.975026	0.00452	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.82433	-1.61;-1.61	5.13	-6.81	0.01704	.	3.081050	0.00777	N	0.001250	T	0.57198	0.2037	N	0.11698	0.16	0.09310	N	1	B;B	0.21309	0.054;0.0	B;B	0.15484	0.013;0.001	T	0.57613	-0.7781	10	0.12766	T	0.61	-0.0014	9.3003	0.37842	0.6415:0.1771:0.1814:0.0	.	805;236	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	236;805	ENSP00000393257:A236V;ENSP00000417401:A805V	ENSP00000393257:A236V	A	-	2	0	RP4-697K14.7	61668741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.788000	0.04614	-1.645000	0.01515	-1.191000	0.01696	GCG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	576	0	0	0	1	0	6	576				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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			5	344	0	0	0	1	0	5	344				
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1393-1395)Gca>Aca		retrotransposon gag domain containing 1							151.0	131.0	138.0					X																	109695238		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695238G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1393G>A	X.37:g.109695238G>A	ENSP00000419786:p.Ala465Thr					RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1639	+			465					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1393G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.136859	0.01742	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.32515	1.45;1.45	3.97	-4.1	0.03940	.	0.573732	0.13288	N	0.399198	T	0.06645	0.0170	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32587	-0.9901	9	.	.	.	-4.4633	3.6067	0.08045	0.2422:0.0:0.3007:0.4571	.	465	Q8NET4	RGAG1_HUMAN	T	465	ENSP00000419786:A465T;ENSP00000441452:A465T	.	A	+	1	0	RGAG1	109581894	0.810000	0.29049	0.009000	0.14445	0.055000	0.15305	0.501000	0.22578	-0.859000	0.04105	-1.087000	0.02190	GCA		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		6	459	0	0	0	1	0	6	459				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	7	182	0	0	0	1	0	7	182				
GPD2	2820	broad.mit.edu	37	2	157435503	157435503	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:157435503G>T	ENST00000310454.6	+	14	2242	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	624	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACTGCCTTCAGACATTGACAG	0.333																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(1870-1872)Gac>Tac		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							117.0	119.0	118.0					2																	157435503		2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157435503G>T		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1870G>T	2.37:g.157435503G>T	ENSP00000308610:p.Asp624Tyr					GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.D624Y|GPD2_ENST00000409125.4_Missense_Mutation_p.D397Y|GPD2_ENST00000409674.1_Missense_Mutation_p.D624Y	p.D624Y	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			14	2242	+			624			EF-hand 1.		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1870G>T	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669779	0.88348	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.79	5.79	0.91817	EF-hand-like domain (1);	0.042575	0.85682	D	0.000000	T	0.70876	0.3274	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	P	0.45946	0.498	T	0.73212	-0.4054	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	624	P43304	GPDM_HUMAN	Y	624;397;624;624	ENSP00000308610:D624Y;ENSP00000386484:D397Y;ENSP00000409708:D624Y;ENSP00000386425:D624Y	ENSP00000308610:D624Y	D	+	1	0	GPD2	157143749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.732000	0.93576	0.585000	0.79938	GAC		0.333	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			35	400	1	0	2.47316e-13	1	2.70322e-13	35	400				
SLC35G3	146861	broad.mit.edu	37	17	33520509	33520509	+	Missense_Mutation	SNP	G	G	A	rs550720367	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:33520509G>A	ENST00000297307.5	-	1	903	c.818C>T	c.(817-819)gCg>gTg	p.A273V	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	273	EamA 2.					integral component of membrane (GO:0016021)											CTTGGTGACCGCATAGCCCAC	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		19324	0.002		0.0	False		,,,				2504	0.0					ENST00000297307.5																			0											c.(817-819)gCg>gTg		solute carrier family 35, member G3							150.0	137.0	141.0					17																	33520509		2203	4299	6502	SO:0001583	missense	146861					integral to membrane		g.chr17:33520509G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.818C>T	17.37:g.33520509G>A	ENSP00000297307:p.Ala273Val						p.A273V	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	903	-			273			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.818C>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521075	0.27211	.	.	ENSG00000164729	ENST00000297307	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.62245	0.2412	L	0.34521	1.04	0.46416	D	0.999039	B	0.18863	0.031	B	0.14578	0.011	T	0.51872	-0.8650	9	0.56958	D	0.05	-6.6496	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	273	Q8N808	S35G3_HUMAN	V	273	ENSP00000297307:A273V	ENSP00000297307:A273V	A	-	2	0	SLC35G3	30544622	1.000000	0.71417	0.143000	0.22291	0.144000	0.21451	2.821000	0.48065	0.064000	0.16427	0.064000	0.15345	GCG		0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	796	0	0	0	1	0	7	796				
COMMD5	28991	broad.mit.edu	37	8	146076505	146076505	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:146076505G>A	ENST00000305103.3	-	2	471	c.219C>T	c.(217-219)gtC>gtT	p.V73V	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000450361.2_Silent_p.V73V|COMMD5_ENST00000402718.3_Silent_p.V73V	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	73						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGTTGGCGCTGACCCCAAGAC	0.647																																						ENST00000450361.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(217-219)gtC>gtT		COMM domain containing 5							24.0	22.0	23.0					8																	146076505		2202	4298	6500	SO:0001819	synonymous_variant	28991					nucleus	protein binding	g.chr8:146076505G>A	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.219C>T	8.37:g.146076505G>A						COMMD5_ENST00000402718.3_Silent_p.V73V|COMMD5_ENST00000305103.3_Silent_p.V73V	p.V73V	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	640	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		73					D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	37	c.219C>T	CCDS6436.1																																																																																				0.647	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		33	187	0	0	0	1	0	33	187				
LRRC40	55631	broad.mit.edu	37	1	70641617	70641617	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:70641617G>C	ENST00000370952.3	-	7	932	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	285						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGATGTTTAAGATGTTCTGCC	0.348																																						ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(853-855)Ctt>Gtt		leucine rich repeat containing 40							119.0	116.0	117.0					1																	70641617		2203	4300	6503	SO:0001583	missense	55631							g.chr1:70641617G>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.853C>G	1.37:g.70641617G>C	ENSP00000359990:p.Leu285Val						p.L285V	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			7	932	-			285					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.853C>G	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350555	0.61183	.	.	ENSG00000066557	ENST00000370952	T	0.61510	0.1	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.55481	1.735	0.53688	D	0.999978	D	0.67145	0.996	D	0.65573	0.936	T	0.56056	-0.8042	10	0.22706	T	0.39	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	285	Q9H9A6	LRC40_HUMAN	V	285	ENSP00000359990:L285V	ENSP00000359990:L285V	L	-	1	0	LRRC40	70414205	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.021000	0.70832	2.567000	0.86603	0.585000	0.79938	CTT		0.348	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		15	229	0	0	0	1	0	15	229				
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	rs201979395		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47.0	53.0	51.0		1907,1907,1907	2.4	1.0	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	12.37:g.114377796C>T	ENSP00000442053:p.Arg636His					RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		636			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1907G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		8	532	0	0	0	1	0	8	532				
HES1	3280	broad.mit.edu	37	3	193855656	193855656	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:193855656G>A	ENST00000232424.3	+	4	713	c.477G>A	c.(475-477)ccG>ccA	p.P159P		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CCGGGCAGCCGCACCCCGCCT	0.746																																						ENST00000232424.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(475-477)ccG>ccA		hes family bHLH transcription factor 1							22.0	26.0	25.0					3																	193855656		2179	4253	6432	SO:0001819	synonymous_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855656G>A	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.477G>A	3.37:g.193855656G>A							p.P159P	NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	713	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		159			Pro-rich.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	c.477G>A	CCDS3305.1																																																																																				0.746	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			6	399	0	0	0	1	0	6	399				
MCC	4163	broad.mit.edu	37	5	112419833	112419833	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:112419833G>A	ENST00000302475.4	-	8	1593	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	MCC_ENST00000408903.3_Missense_Mutation_p.R534W|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R281W	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	344					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGGACTGGCCGATCAGATGAT	0.438																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1030-1032)Cgg>Tgg		mutated in colorectal cancers							186.0	172.0	177.0					5																	112419833		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112419833G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1030C>T	5.37:g.112419833G>A	ENSP00000305617:p.Arg344Trp					MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R281W|MCC_ENST00000408903.3_Missense_Mutation_p.R534W	p.R344W	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	8	1593	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	344					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1030C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764225	0.69878	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39997	2.21;2.21;1.05	5.47	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.27053	0.805	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79108	0.973;0.973;0.992;0.973	T	0.54337	-0.8309	10	0.72032	D	0.01	-18.4526	13.209	0.59813	0.0:0.0:0.5744:0.4256	.	344;306;534;344	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	W	344;281;534	ENSP00000305617:R344W;ENSP00000421615:R281W;ENSP00000386227:R534W	ENSP00000305617:R344W	R	-	1	2	MCC	112447732	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	1.954000	0.40362	1.251000	0.43983	0.563000	0.77884	CGG		0.438	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		5	417	0	0	0	1	0	5	417				
KLHL3	26249	broad.mit.edu	37	5	136997650	136997650	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:136997650A>G	ENST00000309755.4	-	7	1150	c.707T>C	c.(706-708)aTg>aCg	p.M236T	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000508657.1_Missense_Mutation_p.M204T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	236	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GACATGTTCCATCAGCTTTGC	0.443																																						ENST00000508657.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(610-612)aTg>aCg		kelch-like family member 3							165.0	138.0	147.0					5																	136997650		2203	4300	6503	SO:0001583	missense	26249					cytoplasm|cytoskeleton	actin binding|structural molecule activity	g.chr5:136997650A>G	AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.707T>C	5.37:g.136997650A>G	ENSP00000312397:p.Met236Thr					KLHL3_ENST00000541417.1_Missense_Mutation_p.M116T|KLHL3_ENST00000506491.1_Missense_Mutation_p.M154T|KLHL3_ENST00000394937.3_Missense_Mutation_p.M236T|KLHL3_ENST00000309755.4_Missense_Mutation_p.M236T|KLHL3_ENST00000506873.1_5'UTR	p.M204T	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)	7	1325	-		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	236					B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	c.611T>C	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.343183	0.82022	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.90650	3.135	0.80722	D	1	P;D;P;D;D	0.67145	0.858;0.996;0.848;0.996;0.976	B;D;P;D;D	0.68621	0.412;0.944;0.511;0.959;0.932	D	0.87765	0.2601	10	0.87932	D	0	.	15.1492	0.72684	1.0:0.0:0.0:0.0	.	5;196;204;236;236	B7Z6E2;D6RH21;Q9UH77-2;Q9UH77;Q8N4I8	.;.;.;KLHL3_HUMAN;.	T	154;204;236;116;196;236	ENSP00000424828:M154T;ENSP00000422099:M204T;ENSP00000312397:M236T;ENSP00000440319:M116T;ENSP00000426173:M196T;ENSP00000378395:M236T	ENSP00000312397:M236T	M	-	2	0	KLHL3	137025549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.234000	0.73211	0.533000	0.62120	ATG		0.443	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			46	212	0	0	0	1	0	46	212				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	0							g.chr20:29625892T>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.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	439	0	0	0	1	0	9	439				
COL5A3	50509	broad.mit.edu	37	19	10071228	10071228	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:10071228C>T	ENST00000264828.3	-	67	5182	c.5097G>A	c.(5095-5097)cgG>cgA	p.R1699R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1699	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTGTCCTTTCCGGAGCTGTC	0.587																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(5095-5097)cgG>cgA		collagen, type V, alpha 3							93.0	101.0	98.0					19																	10071228		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071228C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5097G>A	19.37:g.10071228C>T							p.R1699R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		67	5182	-			1699			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.5097G>A	CCDS12222.1																																																																																				0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		95	548	0	0	0	1	0	95	548				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			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.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	426	0	0	0	1	0	6	426				
LATS1	9113	broad.mit.edu	37	6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R502C(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTAATACACGCATACTTTTC	0.443																																						ENST00000543571.1																			1	Substitution - Missense(1)	p.R502C(1)	lung(1)	central_nervous_system(1)|lung(5)	6						c.(1504-1506)Cgt>Tgt		large tumor suppressor kinase 1							134.0	139.0	137.0					6																	150004721		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004721G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1504C>T	6.37:g.150004721G>A	ENSP00000437550:p.Arg502Cys					LATS1_ENST00000253339.5_Missense_Mutation_p.R502C|LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR	p.R502C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	2051	-		Ovarian(120;0.0164)	502						Missense_Mutation	SNP	ENST00000543571.1	37	c.1504C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285733	0.59867	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58358	0.34;0.34;2.51	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.65048	0.2654	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.64296	-0.6441	9	.	.	.	.	14.635	0.68682	0.0:0.0:0.8543:0.1457	.	354;502;502	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	502	ENSP00000437550:R502C;ENSP00000253339:R502C;ENSP00000444678:R502C	.	R	-	1	0	LATS1	150046414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.163000	0.71880	2.767000	0.95098	0.655000	0.94253	CGT		0.443	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		5	615	0	0	0	1	0	5	615				
NFATC2	4773	broad.mit.edu	37	20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:50140605C>T	ENST00000396009.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000371564.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A59T(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGGGGTATGCGGGTCCGGAG	0.592																																						ENST00000371564.3																		EWSR1/NFATC2(9)	2	Substitution - Missense(2)	p.A59T(2)	large_intestine(1)|kidney(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(175-177)Gca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							49.0	57.0	54.0					20																	50140605		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140605C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr					NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T	p.A59T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	394	-	Hepatocellular(150;0.248)		59					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.175G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	NFATC2	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA		0.592	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		9	656	0	0	0	1	0	9	656				
TRIOBP	11078	broad.mit.edu	37	22	38120707	38120707	+	Missense_Mutation	SNP	C	C	T	rs372618248		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:38120707C>T	ENST00000406386.3	+	7	2399	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	715				RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332). {ECO:0000305}.	actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACAGAACCACCCAACAAGAG	0.577																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2143-2145)aCc>aTc		TRIO and F-actin binding protein							167.0	182.0	177.0					22																	38120707		1951	4147	6098	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120707C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2144C>T	22.37:g.38120707C>T	ENSP00000384312:p.Thr715Ile					RP1-37E16.12_ENST00000455236.1_RNA	p.T715I	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2399	+	Melanoma(58;0.0574)		715	RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332).				B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2144C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.876568	0.33162	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19669	2.13	4.84	1.65	0.23941	.	.	.	.	.	T	0.14356	0.0347	L	0.28400	0.85	0.19575	N	0.999969	B	0.21905	0.062	B	0.14023	0.01	T	0.22730	-1.0208	9	0.59425	D	0.04	.	6.8661	0.24094	0.0:0.7134:0.0:0.2866	.	715	Q9H2D6	TARA_HUMAN	I	715	ENSP00000384312:T715I	ENSP00000384312:T715I	T	+	2	0	TRIOBP	36450653	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.399000	0.07250	0.281000	0.22233	-0.220000	0.12472	ACC		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	523	0	0	0	1	0	5	523				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		14	218	0	0	0	1	0	14	218				
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SGK494_ENST00000469832.3_5'Flank|SGK494_ENST00000301037.5_5'Flank|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6700-6702)cGc>cAc		KIAA0100							244.0	240.0	242.0					17																	26942089		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26942089C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6701G>A	17.37:g.26942089C>T	ENSP00000436773:p.Arg2234His					KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000424210.1_RNA	p.R2234H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			39	6775	-	Lung NSC(42;0.00431)		2234					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6701G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623061	0.66901	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27720	1.65;1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.42241	-0.9463	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	2234	Q14667	K0100_HUMAN	H	2234;2204;2234;2091	ENSP00000436773:R2234H;ENSP00000446443:R2091H	ENSP00000005905:R2234H	R	-	2	0	KIAA0100	23966216	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.627000	0.67784	2.826000	0.97356	0.561000	0.74099	CGC		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	1334	0	0	0	1	0	8	1334				
SLC12A9	56996	broad.mit.edu	37	7	100460407	100460407	+	Missense_Mutation	SNP	G	G	A	rs368545922		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100460407G>A	ENST00000354161.3	+	13	1941	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M	SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	606					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCACCCTCCGTGCGCCAGGG	0.637																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1816-1818)Gtg>Atg		solute carrier family 12, member 9							130.0	107.0	115.0					7																	100460407		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100460407G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1816G>A	7.37:g.100460407G>A	ENSP00000275730:p.Val606Met					SLC12A9_ENST00000415287.1_Missense_Mutation_p.V517M|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V606M|SLC12A9_ENST00000275729.3_Missense_Mutation_p.V517M|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V606M	p.V606M	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			13	1941	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		606					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1816G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787707	0.90367	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.93953	-2.61;-2.61;-2.24;-2.24;-3.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.968	D	0.96645	0.9477	10	0.66056	D	0.02	.	16.1082	0.81241	0.0:0.0:1.0:0.0	.	517;606	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	M	606;606;517;517;606;232	ENSP00000443702:V606M;ENSP00000408301:V606M;ENSP00000275729:V517M;ENSP00000413796:V517M;ENSP00000275730:V606M	ENSP00000275729:V517M	V	+	1	0	SLC12A9	100298343	1.000000	0.71417	0.950000	0.38849	0.891000	0.51852	7.581000	0.82535	2.404000	0.81709	0.491000	0.48974	GTG		0.637	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		101	607	0	0	0	1	0	101	607				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	371	0	0	0	1	0	6	371				
SLC35G3	146861	broad.mit.edu	37	17	33520540	33520540	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:33520540C>T	ENST00000297307.5	-	1	872	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	263						integral component of membrane (GO:0016021)		p.A263T(1)									GAGACCAAGGCGAGGATCCCC	0.627																																						ENST00000297307.5																			1	Substitution - Missense(1)	p.A263T(1)	breast(1)								c.(787-789)Gcc>Acc		solute carrier family 35, member G3							122.0	111.0	115.0					17																	33520540		2203	4296	6499	SO:0001583	missense	146861					integral to membrane		g.chr17:33520540C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.787G>A	17.37:g.33520540C>T	ENSP00000297307:p.Ala263Thr						p.A263T	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	872	-			263					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.787G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627836	0.14257	.	.	ENSG00000164729	ENST00000297307	T	0.67171	-0.25	.	.	.	.	0.000000	0.44285	D	0.000479	T	0.50599	0.1625	L	0.51422	1.61	0.31569	N	0.656615	B	0.18863	0.031	B	0.14578	0.011	T	0.38672	-0.9650	9	0.31617	T	0.26	-2.6207	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	263	Q8N808	S35G3_HUMAN	T	263	ENSP00000297307:A263T	ENSP00000297307:A263T	A	-	1	0	SLC35G3	30544653	0.996000	0.38824	0.256000	0.24389	0.257000	0.26127	0.721000	0.25911	0.064000	0.16427	0.064000	0.15345	GCC		0.627	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	663	0	0	0	1	0	7	663				
KRTAP9-3	83900	broad.mit.edu	37	17	39389179	39389179	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(424-426)acC>acA		keratin associated protein 9-3							132.0	164.0	153.0					17																	39389179		2105	4300	6405	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39389179C>A	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A							p.T142T	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	465	+		Breast(137;0.000496)	142			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.426C>A	CCDS11385.1																																																																																				0.567	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			7	812	1	0	3.41278e-10	1	3.66212e-10	7	812				
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8.0	10.0	9.0					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		19	89	0	0	0	1	0	19	89				
HERC2	8924	broad.mit.edu	37	15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A	rs575646071		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:28389261G>A	ENST00000261609.7	-	73	11369	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGAGGCCGCAAGGCGAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21338	0.0		0.0	False		,,,				2504	0.001					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11260-11262)gCg>gTg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							112.0	100.0	104.0					15																	28389261		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389261G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11261C>T	15.37:g.28389261G>A	ENSP00000261609:p.Ala3754Val						p.A3754V	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	73	11369	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3754						Missense_Mutation	SNP	ENST00000261609.7	37	c.11261C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506069	0.85282	.	.	ENSG00000128731	ENST00000261609	T	0.43688	0.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.45137	1.4	0.80722	D	1	D	0.57899	0.981	P	0.45377	0.478	T	0.36138	-0.9760	10	0.49607	T	0.09	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	3754	O95714	HERC2_HUMAN	V	3754	ENSP00000261609:A3754V	ENSP00000261609:A3754V	A	-	2	0	HERC2	26062856	1.000000	0.71417	0.298000	0.25002	0.539000	0.34962	9.420000	0.97426	2.783000	0.95769	0.655000	0.94253	GCG		0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	483	0	0	0	1	0	5	483				
ATP2B3	492	broad.mit.edu	37	X	152806983	152806983	+	Silent	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:152806983G>T	ENST00000349466.2	+	3	701	c.375G>T	c.(373-375)tcG>tcT	p.S125S	ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000370186.1_Silent_p.S125S|ATP2B3_ENST00000370181.2_Silent_p.S125S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	125					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCCTCTCGTTCTATGCGC	0.622																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(373-375)tcG>tcT		ATPase, Ca++ transporting, plasma membrane 3							97.0	82.0	87.0					X																	152806983		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152806983G>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.375G>T	X.37:g.152806983G>T						ATP2B3_ENST00000370181.2_Silent_p.S125S|ATP2B3_ENST00000393842.1_Silent_p.S125S|ATP2B3_ENST00000349466.2_Silent_p.S125S|ATP2B3_ENST00000263519.4_Silent_p.S125S|ATP2B3_ENST00000359149.3_Silent_p.S125S	p.S125S			Q16720	AT2B3_HUMAN			3	701	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		125					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.375G>T	CCDS35440.1																																																																																				0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		48	111	1	0	2.81731e-22	1	3.1527e-22	48	111				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		8	902	0	0	0	1	0	8	902				
ACAD9	28976	broad.mit.edu	37	3	128625055	128625055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:128625055G>A	ENST00000308982.7	+	12	1322	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	414						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGTACGAGCGCATACTGCGT	0.632																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1240-1242)cGc>cAc		acyl-CoA dehydrogenase family, member 9							121.0	111.0	115.0					3																	128625055		2203	4300	6503	SO:0001583	missense	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128625055G>A	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1241G>A	3.37:g.128625055G>A	ENSP00000312618:p.Arg414His					ACAD9_ENST00000511526.1_3'UTR	p.R414H	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN			12	1322	+			414					D3DNB8|Q8WXX3	Missense_Mutation	SNP	ENST00000308982.7	37	c.1241G>A	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491866	0.84962	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.97378	-4.36	5.66	4.77	0.60923	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.87932	D	0	.	14.2991	0.66334	0.0:0.1497:0.8503:0.0	.	291;414	Q9H9W4;Q9H845	.;ACAD9_HUMAN	H	414;281	ENSP00000312618:R414H	ENSP00000312618:R414H	R	+	2	0	ACAD9	130107745	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.033000	0.93741	1.354000	0.45846	0.655000	0.94253	CGC		0.632	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049		7	582	0	0	0	1	0	7	582				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		8	636	1	0	9.31168e-06	1	9.63984e-06	8	636				
RP1L1	94137	broad.mit.edu	37	8	10470231	10470231	+	Silent	SNP	G	G	A	rs201173500		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:10470231G>A	ENST00000382483.3	-	4	1600	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	459					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGGGAGGCCGGTGCTGGAGG	0.726																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1375-1377)acC>acT		retinitis pigmentosa 1-like 1							27.0	34.0	32.0					8																	10470231		2000	4150	6150	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470231G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1377C>T	8.37:g.10470231G>A							p.T459T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1600	-			459					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1377C>T	CCDS43708.1																																																																																				0.726	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			71	445	0	0	0	1	0	71	445				
B3GALT2	8707	broad.mit.edu	37	1	193149903	193149903	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:193149903T>C	ENST00000367434.4	-	2	1545	c.790A>G	c.(790-792)Aat>Gat	p.N264D	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	264					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AGTAACTTATTGATTAAATAT	0.388																																						ENST00000367434.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(790-792)Aat>Gat		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							106.0	101.0	103.0					1																	193149903		2203	4299	6502	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193149903T>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.790A>G	1.37:g.193149903T>C	ENSP00000356404:p.Asn264Asp					CDC73_ENST00000367435.3_Intron	p.N264D	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN			2	1545	-			264					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.790A>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985401	0.35036	.	.	ENSG00000162630	ENST00000367434	T	0.42513	0.97	5.42	4.5	0.54988	.	0.104621	0.64402	D	0.000003	T	0.24470	0.0593	N	0.04297	-0.235	0.25600	N	0.98661	B	0.14012	0.009	B	0.24848	0.056	T	0.13953	-1.0490	10	0.24483	T	0.36	.	15.5666	0.76298	0.0:0.0:0.8593:0.1407	.	264	O43825	B3GT2_HUMAN	D	264	ENSP00000356404:N264D	ENSP00000356404:N264D	N	-	1	0	B3GALT2	191416526	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.987000	0.49378	1.266000	0.44231	-0.173000	0.13275	AAT		0.388	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		5	227	0	0	0	1	0	5	227				
ELMO1	9844	broad.mit.edu	37	7	36917614	36917614	+	Splice_Site	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:36917614C>T	ENST00000310758.4	-	19	2470		c.e19+1		ELMO1_ENST00000396040.2_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000396045.3_Splice_Site	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1						actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GAGCTACTTACGTTTGTCCTG	0.488																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.e19+1		engulfment and cell motility 1							99.0	80.0	87.0					7																	36917614		2203	4300	6503	SO:0001630	splice_region_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917614C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1822+1G>A	7.37:g.36917614C>T						ELMO1_ENST00000396045.3_Splice_Site|ELMO1_ENST00000341056.3_Splice_Site|ELMO1_ENST00000442504.1_Splice_Site|ELMO1_ENST00000448602.1_Splice_Site|ELMO1_ENST00000396040.2_Splice_Site		NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			19	2470	-								A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Splice_Site	SNP	ENST00000310758.4	37		CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112821	0.94339	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELMO1	36884139	1.000000	0.71417	0.986000	0.45419	0.981000	0.71138	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	.		0.488	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	Intron	17	136	0	0	0	1	0	17	136				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	233	0	0	0	1	0	4	233				
RAB25	57111	broad.mit.edu	37	1	156038083	156038083	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:156038083G>A	ENST00000361084.5	+	3	503	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	88					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCAGTGGGGGCCCTCCTGGT	0.557																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(262-264)Gcc>Acc		RAB25, member RAS oncogene family							109.0	106.0	107.0					1																	156038083		2113	4264	6377	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156038083G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.262G>A	1.37:g.156038083G>A	ENSP00000354376:p.Ala88Thr					RAB25_ENST00000487325.1_3'UTR	p.A88T	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			3	503	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		88					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.262G>A	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595812	0.96602	.	.	ENSG00000132698	ENST00000361084	T	0.81163	-1.46	5.19	5.19	0.71726	Small GTP-binding protein domain (1);	0.106823	0.64402	D	0.000006	D	0.92851	0.7726	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94704	0.7886	10	0.87932	D	0	.	17.4443	0.87574	0.0:0.0:1.0:0.0	.	88	P57735	RAB25_HUMAN	T	88	ENSP00000354376:A88T	ENSP00000354376:A88T	A	+	1	0	RAB25	154304707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.520000	0.98027	2.686000	0.91538	0.655000	0.94253	GCC		0.557	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			96	498	0	0	0	1	0	96	498				
WSCD1	23302	broad.mit.edu	37	17	5984019	5984019	+	Missense_Mutation	SNP	G	G	A	rs148296936	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:5984019G>A	ENST00000574946.1	+	2	431	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	14						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TTTCTCCGCCGAACACAGTTC	0.672																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(40-42)cGa>cAa		WSC domain containing 1			GLN/ARG	0,4246		0,0,2123	41.0	40.0	40.0		41	4.8	1.0	17	dbSNP_134	40	2,8236		0,2,4117	yes	missense	WSCD1	NM_015253.1	43	0,2,6240	AA,AG,GG		0.0243,0.0,0.016	probably-damaging	14/576	5984019	2,12482	2123	4119	6242	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5984019G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.41G>A	17.37:g.5984019G>A	ENSP00000460825:p.Arg14Gln					WSCD1_ENST00000574232.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.R14Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.R14Q|WSCD1_ENST00000573634.1_Intron	p.R14Q			Q658N2	WSCD1_HUMAN			2	431	+			14					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.41G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	g	31	5.082163	0.94050	0.0	2.43E-4	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.85955	-2.05;-2.05	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000008	D	0.89550	0.6747	L	0.47190	1.495	0.36291	D	0.856398	D	0.89917	1.0	D	0.76575	0.988	D	0.92691	0.6166	10	0.87932	D	0	-12.0492	15.3569	0.74434	0.0:0.0:1.0:0.0	.	14	Q658N2	WSCD1_HUMAN	Q	14	ENSP00000323087:R14Q;ENSP00000446032:R14Q	ENSP00000323087:R14Q	R	+	2	0	WSCD1	5924743	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	6.190000	0.72057	2.203000	0.70933	0.552000	0.68991	CGA		0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		4	224	0	0	0	1	0	4	224				
GJC3	349149	broad.mit.edu	37	7	99521174	99521174	+	Missense_Mutation	SNP	A	A	T	rs377442638		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:99521174A>T	ENST00000312891.2	-	2	833	c.834T>A	c.(832-834)gaT>gaA	p.D278E		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	278					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					caactcaggcatctctgggtc	0.388																																						ENST00000312891.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(832-834)gaT>gaA		gap junction protein, gamma 3, 30.2kDa							121.0	112.0	115.0					7																	99521174		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99521174A>T	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.834T>A	7.37:g.99521174A>T	ENSP00000325775:p.Asp278Glu						p.D278E	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN			2	833	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		278					A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.834T>A	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409331	0.42715	.	.	ENSG00000176402	ENST00000312891	D	0.97850	-4.57	0.235	-0.47	0.12131	.	.	.	.	.	D	0.91928	0.7444	N	0.08118	0	0.19575	N	0.999967	P	0.38711	0.643	B	0.43360	0.417	D	0.87092	0.2173	8	0.21540	T	0.41	.	.	.	.	.	278	Q8NFK1	CXG3_HUMAN	E	278	ENSP00000325775:D278E	ENSP00000325775:D278E	D	-	3	2	GJC3	99359110	0.157000	0.22836	0.581000	0.28614	0.590000	0.36582	-0.593000	0.05740	-0.738000	0.04817	-0.736000	0.03550	GAT		0.388	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		39	264	0	0	0	1	0	39	264				
TRIM42	287015	broad.mit.edu	37	3	140401600	140401600	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:140401600G>A	ENST00000286349.3	+	2	829	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	213						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R213H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCACGGGCGTCTCACCAAG	0.612																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.R213H(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(637-639)cGt>cAt		tripartite motif containing 42							74.0	73.0	73.0					3																	140401600		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401600G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.638G>A	3.37:g.140401600G>A	ENSP00000286349:p.Arg213His						p.R213H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	829	+			213					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.638G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215216	0.79352	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.32	0.51571	Zinc finger, RING/FYVE/PHD-type (1);	0.117429	0.35349	N	0.003274	T	0.46347	0.1388	L	0.52905	1.665	0.30123	N	0.805474	D	0.71674	0.998	P	0.54140	0.743	T	0.45366	-0.9266	10	0.35671	T	0.21	-16.8257	8.6972	0.34303	0.1016:0.0:0.8984:0.0	.	213	Q8IWZ5	TRI42_HUMAN	H	213	ENSP00000286349:R213H	ENSP00000286349:R213H	R	+	2	0	TRIM42	141884290	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.158000	0.42329	2.435000	0.82474	0.561000	0.74099	CGT		0.612	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		76	566	0	0	0	1	0	76	566				
FBXO3	26273	broad.mit.edu	37	11	33763529	33763529	+	Silent	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763529T>C	ENST00000265651.3	-	11	1359	c.1341A>G	c.(1339-1341)gaA>gaG	p.E447E	FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Silent_p.E334E|FBXO3_ENST00000531080.1_Silent_p.E134E	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCATCATCTTCATCTGATT	0.478																																						ENST00000526785.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1000-1002)gaA>gaG		F-box protein 3							211.0	161.0	177.0					11																	33763529		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763529T>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1341A>G	11.37:g.33763529T>C						FBXO3_ENST00000531080.1_Silent_p.E134E|FBXO3_ENST00000265651.3_Silent_p.E447E|FBXO3_ENST00000532057.1_Silent_p.E134E|FBXO3_ENST00000530401.1_3'UTR	p.E334E			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4753	-		Lung NSC(402;0.0804)	447			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.1002A>G	CCDS7887.1																																																																																				0.478	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		29	182	0	0	0	1	0	29	182				
DSG4	147409	broad.mit.edu	37	18	28991322	28991322	+	Missense_Mutation	SNP	G	G	A	rs145949758		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:28991322G>A	ENST00000308128.4	+	15	2401	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A775T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	756					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ctcaggggccgcaAGGAAGAG	0.617																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2323-2325)Gca>Aca		desmoglein 4							54.0	52.0	53.0					18																	28991322		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991322G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2266G>A	18.37:g.28991322G>A	ENSP00000311859:p.Ala756Thr					DSG4_ENST00000308128.4_Missense_Mutation_p.A756T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.A775T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2352	+			756					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2323G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	4.141	0.024420	0.08054	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.87	-11.7	0.00046	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.09640	-1.0665	9	0.17369	T	0.5	.	0.3831	0.00398	0.351:0.2389:0.1437:0.2663	.	775;756	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	756;775	ENSP00000311859:A756T;ENSP00000352785:A775T	ENSP00000311859:A756T	A	+	1	0	DSG4	27245320	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.460000	0.06720	-2.897000	0.00313	-0.905000	0.02835	GCA		0.617	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		5	288	0	0	0	1	0	5	288				
FYB	2533	broad.mit.edu	37	5	39202291	39202291	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:39202291G>A	ENST00000351578.6	-	2	962	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	FYB_ENST00000540520.1_Missense_Mutation_p.P268S|FYB_ENST00000512982.1_Missense_Mutation_p.P258S|FYB_ENST00000505428.1_Missense_Mutation_p.P258S|FYB_ENST00000515010.1_Missense_Mutation_p.P258S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	258					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCAGGAAAGGGCAAACTTGAA	0.502																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(772-774)Ccc>Tcc		FYN binding protein							111.0	108.0	109.0					5																	39202291		1830	4092	5922	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202291G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.772C>T	5.37:g.39202291G>A	ENSP00000316460:p.Pro258Ser					FYB_ENST00000505428.1_Missense_Mutation_p.P258S|FYB_ENST00000540520.1_Missense_Mutation_p.P268S|FYB_ENST00000515010.1_Missense_Mutation_p.P258S|FYB_ENST00000512982.1_Missense_Mutation_p.P258S	p.P258S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	962	-	all_lung(31;0.000343)		258					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.772C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985390	0.35036	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25414	1.8;1.8;1.81;1.81;1.84	6.07	4.26	0.50523	.	0.376295	0.29133	N	0.013049	T	0.44685	0.1305	M	0.70595	2.14	0.29578	N	0.849382	D;B	0.89917	1.0;0.144	D;B	0.83275	0.996;0.022	T	0.42515	-0.9447	10	0.54805	T	0.06	-3.452	6.3798	0.21527	0.0636:0.1136:0.5911:0.2318	.	268;258	B4DLN2;O15117	.;FYB_HUMAN	S	258;258;258;258;268;258	ENSP00000316460:P258S;ENSP00000426346:P258S;ENSP00000425845:P258S;ENSP00000427114:P258S;ENSP00000442840:P268S	ENSP00000316460:P258S	P	-	1	0	FYB	39238048	0.913000	0.31002	0.578000	0.28575	0.201000	0.24016	1.356000	0.34079	1.562000	0.49601	0.655000	0.94253	CCC		0.502	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		6	783	0	0	0	1	0	6	783				
XYLT2	64132	broad.mit.edu	37	17	48431870	48431870	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48431870G>A	ENST00000017003.2	+	3	779	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	244					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCACGGCCGCGCCATCCGCCA	0.612																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(730-732)Gcc>Acc		xylosyltransferase II							44.0	43.0	44.0					17																	48431870		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431870G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.730G>A	17.37:g.48431870G>A	ENSP00000017003:p.Ala244Thr					XYLT2_ENST00000507602.1_Missense_Mutation_p.A244T	p.A244T	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			3	779	+	Breast(11;7.18e-19)		244					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.730G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813933	0.90790	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11169	2.8;2.8	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.31081	-0.9956	10	0.54805	T	0.06	-17.8105	17.6496	0.88159	0.0:0.0:1.0:0.0	.	244	Q9H1B5	XYLT2_HUMAN	T	244	ENSP00000017003:A244T;ENSP00000426501:A244T	ENSP00000017003:A244T	A	+	1	0	XYLT2	45786869	1.000000	0.71417	0.919000	0.36401	0.568000	0.35870	9.411000	0.97342	2.403000	0.81681	0.313000	0.20887	GCC		0.612	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	226	0	0	0	1	0	5	226				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			7	389	0	0	0	1	0	7	389				
BRWD3	254065	broad.mit.edu	37	X	79932804	79932804	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:79932804G>A	ENST00000373275.4	-	41	4929	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1571					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTTTTCTCTTGATTCCTGTCC	0.368																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4711-4713)atC>atT		bromodomain and WD repeat domain containing 3							44.0	41.0	42.0					X																	79932804		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79932804G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4713C>T	X.37:g.79932804G>A						BRWD3_ENST00000473691.1_5'UTR	p.I1571I	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4929	-			1571					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.4713C>T	CCDS14447.1																																																																																				0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		34	87	0	0	0	1	0	34	87				
SNRPA	6626	broad.mit.edu	37	19	41268935	41268935	+	Missense_Mutation	SNP	C	C	T	rs374666711		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:41268935C>T	ENST00000243563.3	+	4	1106	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	186	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGGGCCATGCCCCCGCAGCA	0.612																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(556-558)Ccc>Tcc		small nuclear ribonucleoprotein polypeptide A		C	SER/PRO	0,4406		0,0,2203	25.0	27.0	27.0		556	4.4	1.0	19		27	1,8599		0,1,4299	no	missense	SNRPA	NM_004596.4	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	186/283	41268935	1,13005	2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268935C>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.556C>T	19.37:g.41268935C>T	ENSP00000243563:p.Pro186Ser						p.P186S	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1106	+			186			Pro-rich.			Missense_Mutation	SNP	ENST00000243563.3	37	c.556C>T	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661899	0.67700	0.0	1.16E-4	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.27557	1.66	5.42	4.39	0.52855	.	0.000000	0.64402	D	0.000014	T	0.45637	0.1352	L	0.60455	1.87	0.40094	D	0.976284	D	0.57571	0.98	P	0.59424	0.857	T	0.39231	-0.9624	10	0.37606	T	0.19	-16.183	12.9433	0.58359	0.0:0.9199:0.0:0.0801	.	186	P09012	SNRPA_HUMAN	S	186;107	ENSP00000243563:P186S	ENSP00000243563:P186S	P	+	1	0	SNRPA	45960775	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.516000	0.53436	1.284000	0.44531	0.655000	0.94253	CCC		0.612	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		5	254	0	0	0	1	0	5	254				
PLA2G4A	5321	broad.mit.edu	37	1	186916023	186916023	+	Silent	SNP	C	C	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186916023C>A	ENST00000367466.3	+	12	1346	c.1194C>A	c.(1192-1194)tcC>tcA	p.S398S	PLA2G4A_ENST00000442353.2_Silent_p.S338S	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	398	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGCCTTTTCCATATTGTTCA	0.358																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1192-1194)tcC>tcA		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						151.0	148.0	149.0					1																	186916023		2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186916023C>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1194C>A	1.37:g.186916023C>A						PLA2G4A_ENST00000442353.2_Silent_p.S338S	p.S398S	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			12	1346	+			398			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1194C>A	CCDS1372.1																																																																																				0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		45	367	1	0	6.87076e-12	1	7.47513e-12	45	367				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	192	0	0	0	1	0	5	192				
BTN3A1	11119	broad.mit.edu	37	6	26413540	26413540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:26413540G>A	ENST00000289361.6	+	10	1530	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTCGGCTGTGAGAGCTTCAT	0.512																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1162-1164)Gag>Aag		butyrophilin, subfamily 3, member A1							141.0	149.0	146.0					6																	26413540		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26413540G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1162G>A	6.37:g.26413540G>A	ENSP00000289361:p.Glu388Lys					BTN3A1_ENST00000414912.2_Missense_Mutation_p.E336K	p.E388K	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1530	+			388			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1162G>A	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010049	0.35415	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15017	2.46;2.46	2.96	1.08	0.20341	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03520	0.0101	N	0.25992	0.78	0.19300	N	0.999971	B;B	0.18461	0.028;0.028	B;B	0.17722	0.019;0.012	T	0.42949	-0.9421	9	0.44086	T	0.13	.	6.0568	0.19816	0.3689:0.0:0.6311:0.0	.	336;388	E9PGB4;O00481	.;BT3A1_HUMAN	K	388;336	ENSP00000289361:E388K;ENSP00000406667:E336K	ENSP00000289361:E388K	E	+	1	0	BTN3A1	26521519	0.131000	0.22433	0.000000	0.03702	0.003000	0.03518	0.910000	0.28571	0.080000	0.16959	0.609000	0.83330	GAG		0.512	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			69	506	0	0	0	1	0	69	506				
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	rs543351323	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													G|||	5	0.000998403	0.0	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0051					ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2455-2457)cCg>cTg		leucine rich repeat containing 66							65.0	67.0	66.0					4																	52860732		1885	4114	5999	SO:0001583	missense	339977					integral to membrane		g.chr4:52860732G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2456C>T	4.37:g.52860732G>A	ENSP00000341944:p.Pro819Leu						p.P819L	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2462	-			819						Missense_Mutation	SNP	ENST00000343457.3	37	c.2456C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	254	0	0	0	1	0	5	254				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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			20	255	0	0	0	1	0	20	255				
KLHL30	377007	broad.mit.edu	37	2	239049668	239049668	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:239049668G>A	ENST00000409223.1	+	2	380	c.273G>A	c.(271-273)gtG>gtA	p.V91V	KLHL30_ENST00000305959.4_Silent_p.V73V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	91	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACTTCGTGTACACAGGCC	0.672																																						ENST00000409223.1																			0				lung(4)	4						c.(271-273)gtG>gtA		kelch-like family member 30							82.0	96.0	92.0					2																	239049668		2176	4258	6434	SO:0001819	synonymous_variant	377007							g.chr2:239049668G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.273G>A	2.37:g.239049668G>A						KLHL30_ENST00000305959.4_Silent_p.V73V	p.V91V			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	380	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	91			BTB.		Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.273G>A	CCDS46555.2																																																																																				0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		6	894	0	0	0	1	0	6	894				
FBXO3	26273	broad.mit.edu	37	11	33763531	33763531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:33763531C>T	ENST00000265651.3	-	11	1357	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.E334K|FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	447	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCATCATCTTCATCTGATTCA	0.483																																						ENST00000526785.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1000-1002)Gaa>Aaa		F-box protein 3							211.0	161.0	178.0					11																	33763531		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763531C>T	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1339G>A	11.37:g.33763531C>T	ENSP00000265651:p.Glu447Lys					FBXO3_ENST00000531080.1_Missense_Mutation_p.E134K|FBXO3_ENST00000265651.3_Missense_Mutation_p.E447K|FBXO3_ENST00000532057.1_Missense_Mutation_p.E134K|FBXO3_ENST00000530401.1_3'UTR	p.E334K			Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4751	-		Lung NSC(402;0.0804)	447			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.1000G>A	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476081	0.63737	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.78	4.78	0.61160	.	0.143577	0.32372	N	0.006184	T	0.71609	0.3360	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.62184	0.899	T	0.76759	-0.2841	10	0.66056	D	0.02	-6.8063	15.9536	0.79861	0.0:1.0:0.0:0.0	.	447	Q9UK99	FBX3_HUMAN	K	334;447;134;134	ENSP00000435680:E334K;ENSP00000265651:E447K;ENSP00000435165:E134K;ENSP00000434001:E134K	ENSP00000265651:E447K	E	-	1	0	FBXO3	33720107	0.999000	0.42202	0.999000	0.59377	0.978000	0.69477	4.196000	0.58407	2.339000	0.79563	0.561000	0.74099	GAA		0.483	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		28	175	0	0	0	1	0	28	175				
KCNQ3	3786	broad.mit.edu	37	8	133153411	133153411	+	Missense_Mutation	SNP	C	C	T	rs141821338		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133153411C>T	ENST00000388996.4	-	10	1850	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	477					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R477H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCTTTCATGCGGAAGGCCGT	0.473																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.R477H(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1429-1431)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 3							119.0	124.0	122.0					8																	133153411		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153411C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1430G>A	8.37:g.133153411C>T	ENSP00000373648:p.Arg477His					KCNQ3_ENST00000521134.1_Missense_Mutation_p.R357H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R477H	p.R477H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1850	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		477					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1430G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011674	0.93346	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99735	-6.58;-6.58;-6.58	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.118141	0.56097	D	0.000027	D	0.99600	0.9855	M	0.64170	1.965	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-16.6136	18.6978	0.91607	0.0:1.0:0.0:0.0	.	477;477	E7ET42;O43525	.;KCNQ3_HUMAN	H	477;357;477;466;356	ENSP00000373648:R477H;ENSP00000429799:R357H;ENSP00000428790:R477H	ENSP00000373648:R477H	R	-	2	0	KCNQ3	133222593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.524000	0.60552	2.652000	0.90054	0.655000	0.94253	CGC		0.473	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		60	527	0	0	0	1	0	60	527				
SEPHS2	22928	broad.mit.edu	37	16	30455811	30455811	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30455811G>A	ENST00000478753.2	-	1	1691	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	413					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GATCCGGGCCGTTCGGTTTCC	0.537																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1237-1239)aCg>aTg		selenophosphate synthetase 2							71.0	74.0	73.0					16																	30455811		1990	4148	6138	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30455811G>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1238C>T	16.37:g.30455811G>A	ENSP00000418669:p.Thr413Met					SEPHS2_ENST00000542752.1_Missense_Mutation_p.T356M|SEPHS2_ENST00000500504.2_Missense_Mutation_p.T413M	p.T413M			Q99611	SPS2_HUMAN			1	1691	-			413					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1238C>T		.	.	.	.	.	.	.	.	.	.	G	7.619	0.676333	0.14841	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.18174	2.23;2.23;2.23	5.28	4.32	0.51571	AIR synthase-related protein, C-terminal (2);	0.239370	0.39834	N	0.001245	T	0.18882	0.0453	L	0.61387	1.9	0.80722	D	1	P;B	0.42039	0.769;0.091	B;B	0.36186	0.219;0.082	T	0.03268	-1.1054	10	0.48119	T	0.1	-14.479	14.0137	0.64513	0.0:0.1527:0.8473:0.0	.	413;356	Q99611;F5H8F9	SPS2_HUMAN;.	M	413;356;364;413	ENSP00000418669:T413M;ENSP00000443601:T356M;ENSP00000426234:T413M	ENSP00000390233:T364M	T	-	2	0	SEPHS2	30363312	1.000000	0.71417	0.880000	0.34516	0.045000	0.14185	4.815000	0.62634	1.361000	0.45981	-0.176000	0.13171	ACG		0.537	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	356	0	0	0	1	0	5	356				
GABARAPL3	23766	broad.mit.edu	37	15	90892199	90892199	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:90892199G>T	ENST00000412799.2	-	1	470	c.231C>A	c.(229-231)ttC>ttA	p.F77L				Q9BY60	GBRL3_HUMAN	GABA(A) receptors associated protein like 3, pseudogene	77					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)											TGACAAAGAAGAATAAGGCGT	0.483																																						ENST00000412799.2																			0											c.(229-231)ttC>ttA																																						SO:0001583	missense	0							g.chr15:90892199G>T	AF180519		15q26.1	2014-02-12	2010-10-13		ENSG00000238244	ENSG00000238244			4069	pseudogene	pseudogene			"""GABA(A) receptors associated protein like 3"", ""GABA(A) receptors associated protein like 3 (pseudogene)"""			11414770	Standard	NR_028287		Approved	ATG8D	uc010uqf.2	Q9BY60	OTTHUMG00000177213	ENST00000412799.2:c.231C>A	15.37:g.90892199G>T	ENSP00000394008:p.Phe77Leu						p.F77L							1	470	-									Missense_Mutation	SNP	ENST00000412799.2	37	c.231C>A		.	.	.	.	.	.	.	.	.	.	G	16.36	3.102021	0.56183	.	.	ENSG00000238244	ENST00000412799	T	0.58652	0.32	1.11	-0.897	0.10553	.	.	.	.	.	T	0.50820	0.1638	.	.	.	0.27214	N	0.95983	.	.	.	.	.	.	T	0.51568	-0.8689	6	0.87932	D	0	.	4.632	0.12506	0.4812:0.0:0.5188:0.0	.	.	.	.	L	77	ENSP00000394008:F77L	ENSP00000394008:F77L	F	-	3	2	GABARAPL3	88693203	1.000000	0.71417	0.721000	0.30653	0.910000	0.53928	2.279000	0.43435	-0.210000	0.10140	-0.373000	0.07131	TTC		0.483	GABARAPL3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028287		11	161	1	0	3.27435e-08	1	3.4976e-08	11	161				
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(184-186)cAc>cGc		keratin associated protein 4-4							39.0	48.0	45.0					17																	39316759		2200	4294	6494	SO:0001583	missense	84616					keratin filament		g.chr17:39316759T>C	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.185A>G	17.37:g.39316759T>C	ENSP00000375076:p.His62Arg						p.H62R	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	224	-		Breast(137;0.000496)	62		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.185A>G	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	3.774	-0.047123	0.07407	.	.	ENSG00000171396	ENST00000390661	T	0.01203	5.18	5.19	-0.262	0.12958	.	0.000000	0.30101	N	0.010409	T	0.00210	0.0006	N	0.00010	-3.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	10	0.13108	T	0.6	.	4.2837	0.10844	0.153:0.4186:0.0:0.4284	.	62	Q9BYR3	KRA44_HUMAN	R	62	ENSP00000375076:H62R	ENSP00000375076:H62R	H	-	2	0	KRTAP4-4	36570285	0.000000	0.05858	0.243000	0.24186	0.582000	0.36321	-0.494000	0.06451	0.042000	0.15717	-0.142000	0.14014	CAC		0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			6	489	0	0	0	1	0	6	489				
METTL17	64745	broad.mit.edu	37	14	21464862	21464862	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:21464862G>A	ENST00000339374.6	+	13	1490	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	METTL17_ENST00000382985.4_Silent_p.R419R|SLC39A2_ENST00000298681.4_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R419R|SLC39A2_ENST00000554422.1_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	419					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CAGCCCGCCGGCACGGCAGGT	0.582																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1255-1257)cgG>cgA		methyltransferase like 17							88.0	85.0	86.0					14																	21464862		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464862G>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1257G>A	14.37:g.21464862G>A						RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R419R|METTL17_ENST00000382985.4_Silent_p.R419R	p.R419R	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			13	1490	+			419					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.1257G>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239398	0.22711	.	.	ENSG00000165792	ENST00000556733	.	.	.	5.34	-0.867	0.10655	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	6.8405	0.23961	0.2595:0.2368:0.5037:0.0	.	.	.	.	T	95	.	.	A	+	1	0	METTL17	20534702	0.219000	0.23619	0.781000	0.31783	0.977000	0.68977	0.050000	0.14120	-0.066000	0.12998	0.655000	0.94253	GCA		0.582	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		6	463	0	0	0	1	0	6	463				
RGMA	56963	broad.mit.edu	37	15	93595475	93595475	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:93595475C>T	ENST00000329082.7	-	3	664	c.393G>A	c.(391-393)ccG>ccA	p.P131P	RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Silent_p.P115P	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	131					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGTCTCCGGCCGGTGGGAGCG	0.647																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(391-393)ccG>ccA		repulsive guidance molecule family member a							38.0	47.0	44.0					15																	93595475		2190	4294	6484	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595475C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.393G>A	15.37:g.93595475C>T						RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_Silent_p.P22P|RGMA_ENST00000556087.1_Silent_p.P115P|RGMA_ENST00000538818.1_Silent_p.P22P|RGMA_ENST00000557301.1_Silent_p.P139P|RGMA_ENST00000542321.2_Silent_p.P115P|RGMA_ENST00000543599.1_Silent_p.P115P|RGMA_ENST00000425933.2_Silent_p.P115P	p.P131P	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	664	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		131					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.393G>A	CCDS45357.1																																																																																				0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		45	325	0	0	0	1	0	45	325				
MDN1	23195	broad.mit.edu	37	6	90422465	90422465	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:90422465C>T	ENST00000369393.3	-	48	7374	c.7259G>A	c.(7258-7260)cGa>cAa	p.R2420Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGTGCTCGCAAAGAAGA	0.448																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7258-7260)cGa>cAa		MDN1, midasin homolog (yeast)							71.0	68.0	69.0					6																	90422465		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90422465C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7259G>A	6.37:g.90422465C>T	ENSP00000358400:p.Arg2420Gln					MDN1_ENST00000428876.1_Missense_Mutation_p.R2420Q	p.R2420Q			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	48	7374	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2420					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7259G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093904	0.20471	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02837	4.14;4.14	5.62	-6.75	0.01738	.	1.628850	0.03584	N	0.230613	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.47649	-0.9101	10	0.13108	T	0.6	.	6.2293	0.20726	0.0757:0.219:0.127:0.5784	.	2420	Q9NU22	MDN1_HUMAN	Q	2420	ENSP00000358400:R2420Q;ENSP00000413970:R2420Q	ENSP00000358400:R2420Q	R	-	2	0	MDN1	90479186	0.000000	0.05858	0.005000	0.12908	0.504000	0.33889	-1.025000	0.03600	-0.943000	0.03691	0.467000	0.42956	CGA		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	271	0	0	0	1	0	37	271				
AMOTL2	51421	broad.mit.edu	37	3	134090033	134090033	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:134090033G>A	ENST00000422605.2	-	2	409	c.243C>T	c.(241-243)ggC>ggT	p.G81G	AMOTL2_ENST00000249883.5_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000514516.1_Silent_p.G139G|AMOTL2_ENST00000513145.1_Silent_p.G81G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	81					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTTCTCACCGCCCTGGTGCT	0.677																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(415-417)ggC>ggT		angiomotin like 2							51.0	44.0	46.0					3																	134090033		2203	4300	6503	SO:0001819	synonymous_variant	51421							g.chr3:134090033G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.243C>T	3.37:g.134090033G>A						AMOTL2_ENST00000513145.1_Silent_p.G81G|AMOTL2_ENST00000511759.1_5'UTR|AMOTL2_ENST00000422605.2_Silent_p.G81G|AMOTL2_ENST00000249883.5_Silent_p.G81G	p.G139G	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			2	595	-			81					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	ENST00000422605.2	37	c.417C>T																																																																																					0.677	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		4	257	0	0	0	1	0	4	257				
PHKB	5257	broad.mit.edu	37	16	47683068	47683068	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:47683068G>A	ENST00000323584.5	+	18	1774	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000455779.1_Missense_Mutation_p.D577N	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	584					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CGACCTAAGTGATTTCTACAT	0.343																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(1729-1731)Gat>Aat		phosphorylase kinase, beta							171.0	160.0	164.0					16																	47683068		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47683068G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1750G>A	16.37:g.47683068G>A	ENSP00000313504:p.Asp584Asn					PHKB_ENST00000566044.1_Missense_Mutation_p.D577N|PHKB_ENST00000299167.8_Missense_Mutation_p.D584N|PHKB_ENST00000323584.5_Missense_Mutation_p.D584N	p.D577N			Q93100	KPBB_HUMAN			19	1914	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	584					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1729G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512079	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.91180	-2.8;-2.8	5.89	5.89	0.94794	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95278	0.8383	10	0.59425	D	0.04	-29.7077	19.8459	0.96707	0.0:0.0:1.0:0.0	.	584;577	Q93100;Q93100-4	KPBB_HUMAN;.	N	577;577;584	ENSP00000414345:D577N;ENSP00000313504:D584N	ENSP00000299167:D577N	D	+	1	0	PHKB	46240569	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.037000	0.93765	2.788000	0.95919	0.585000	0.79938	GAT		0.343	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			53	338	0	0	0	1	0	53	338				
DYRK1B	9149	broad.mit.edu	37	19	40316422	40316422	+	Missense_Mutation	SNP	T	T	G	rs200959786		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:40316422T>G	ENST00000593685.1	-	11	2291	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	DYRK1B_ENST00000597639.1_Missense_Mutation_p.D580A|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D568A|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D580A|DYRK1B_ENST00000323039.5_Missense_Mutation_p.D608A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	608					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGTGGCAGGGTCATCAGGAGG	0.716																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1822-1824)gAc>gCc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							5.0	7.0	7.0					19																	40316422		2119	4177	6296	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316422T>G	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1823A>C	19.37:g.40316422T>G	ENSP00000469863:p.Asp608Ala					DYRK1B_ENST00000323039.5_Missense_Mutation_p.D608A|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D580A|DYRK1B_ENST00000597639.1_Missense_Mutation_p.D580A|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D568A	p.D608A			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2291	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		608					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1823A>C	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327676	0.60743	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.58506	0.33;0.47;0.44	5.25	5.25	0.73442	.	0.507655	0.19528	N	0.112101	T	0.36580	0.0972	N	0.08118	0	0.32145	N	0.584993	B;B;B	0.20780	0.048;0.028;0.048	B;B;B	0.19148	0.024;0.011;0.024	T	0.40979	-0.9534	10	0.21540	T	0.41	.	13.1065	0.59249	0.0:0.0:0.0:1.0	.	568;608;580	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	A	608;580;568	ENSP00000312789:D608A;ENSP00000221803:D580A;ENSP00000403182:D568A	ENSP00000312789:D608A	D	-	2	0	DYRK1B	45008262	0.956000	0.32656	1.000000	0.80357	0.982000	0.71751	0.414000	0.21164	1.967000	0.57214	0.379000	0.24179	GAC		0.716	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		7	36	0	0	0	1	0	7	36				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	52	1	0	0.000602214	1	0.000615306	3	52				
KIAA0922	23240	broad.mit.edu	37	4	154542991	154542991	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:154542991G>T	ENST00000409663.3	+	28	3898	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	KIAA0922_ENST00000409959.3_Missense_Mutation_p.Q1283H|KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1282						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CTGCTGCCCAGAGAGAGGCAG	0.423																																						ENST00000409959.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3847-3849)caG>caT		KIAA0922							104.0	99.0	101.0					4																	154542991		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154542991G>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3846G>T	4.37:g.154542991G>T	ENSP00000386574:p.Gln1282His					KIAA0922_ENST00000440693.1_Missense_Mutation_p.Q1199H|KIAA0922_ENST00000409663.3_Missense_Mutation_p.Q1282H	p.Q1283H	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN			28	3898	+	all_hematologic(180;0.093)	Renal(120;0.118)	1282					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3849G>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431059	0.25726	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.42;2.15;2.42;2.15	5.16	3.08	0.35506	.	0.507289	0.20653	N	0.088171	T	0.28962	0.0719	L	0.43152	1.355	0.24200	N	0.995515	D;P;P	0.71674	0.998;0.925;0.877	P;P;P	0.62560	0.904;0.667;0.467	T	0.04053	-1.0981	10	0.31617	T	0.26	-3.8639	7.293	0.26376	0.1656:0.0:0.6948:0.1396	.	1199;1283;1282	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	1282;1199;1283;1060	ENSP00000386574:Q1282H;ENSP00000409663:Q1199H;ENSP00000386787:Q1283H;ENSP00000240487:Q1060H	ENSP00000240487:Q1060H	Q	+	3	2	KIAA0922	154762441	1.000000	0.71417	0.947000	0.38551	0.251000	0.25915	1.834000	0.39171	1.173000	0.42796	0.655000	0.94253	CAG		0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		21	154	1	0	2.89027e-11	1	3.11566e-11	21	154				
GPANK1	7918	broad.mit.edu	37	6	31631878	31631878	+	Silent	SNP	C	C	T	rs374001839		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:31631878C>T	ENST00000375906.1	-	3	1062	c.378G>A	c.(376-378)ccG>ccA	p.P126P	CSNK2B_ENST00000375866.2_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|Y_RNA_ENST00000364337.1_RNA|CSNK2B_ENST00000375885.4_5'Flank|CSNK2B_ENST00000375865.2_5'Flank|GPANK1_ENST00000375893.2_Silent_p.P126P|GPANK1_ENST00000375896.4_Silent_p.P126P|GPANK1_ENST00000375900.4_Silent_p.P126P|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375895.2_Silent_p.P126P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	126							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTGCCTCATGCGGTTCCAGCA	0.617																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(376-378)ccG>ccA		G patch domain and ankyrin repeats 1		C	,,,,	0,4406		0,0,2203	84.0	81.0	82.0		378,378,378,378,378	2.8	0.8	6		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPANK1	NM_001199237.1,NM_001199238.1,NM_001199239.1,NM_001199240.1,NM_033177.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	126/357,126/357,126/357,126/357,126/357	31631878	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7918					intracellular	nucleic acid binding	g.chr6:31631878C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.378G>A	6.37:g.31631878C>T						GPANK1_ENST00000375893.2_Silent_p.P126P|GPANK1_ENST00000375896.4_Silent_p.P126P|GPANK1_ENST00000375895.2_Silent_p.P126P|GPANK1_ENST00000375900.4_Silent_p.P126P	p.P126P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			3	1062	-			126					A6NG25|B0UXA2|Q5SQ49	Silent	SNP	ENST00000375906.1	37	c.378G>A	CCDS4711.1																																																																																				0.617	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		5	516	0	0	0	1	0	5	516				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		15	213	0	0	0	1	0	15	213				
LRRN4	164312	broad.mit.edu	37	20	6021941	6021941	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:6021941G>A	ENST00000378858.4	-	5	2174	c.1950C>T	c.(1948-1950)tgC>tgT	p.C650C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	650	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCAGCACGCACACGCGGT	0.721																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1948-1950)tgC>tgT		leucine rich repeat neuronal 4							16.0	16.0	16.0					20																	6021941		2186	4273	6459	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6021941G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1950C>T	20.37:g.6021941G>A							p.C650C	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	2174	-			650			Fibronectin type-III.		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1950C>T	CCDS13097.1																																																																																				0.721	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		4	184	0	0	0	1	0	4	184				
IL17RE	132014	broad.mit.edu	37	3	9956176	9956176	+	Intron	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:9956176C>T	ENST00000383814.3	+	14	1401				IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000454190.2_Silent_p.S438S|IL17RC_ENST00000295981.3_5'Flank|IL17RC_ENST00000383812.4_5'Flank|IL17RC_ENST00000416074.2_5'Flank|IL17RE_ENST00000421412.1_Intron|IL17RC_ENST00000455057.1_5'Flank|IL17RC_ENST00000403601.3_5'Flank|IL17RC_ENST00000413608.1_5'Flank	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E						inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTTCACTCAGCTCCCCGGGAG	0.612																																						ENST00000454190.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21						c.(1312-1314)agC>agT		interleukin 17 receptor E							23.0	26.0	25.0					3																	9956176		692	1591	2283	SO:0001627	intron_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9956176C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1297-56C>T	3.37:g.9956176C>T						IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000421412.1_Intron	p.S438S	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	14	1399	+			0					B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Silent	SNP	ENST00000383814.3	37	c.1314C>T	CCDS2589.1																																																																																				0.612	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		151	411	0	0	0	1	0	151	411				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	250	1	0	1.15088e-07	1	1.22378e-07	5	250				
PLCB3	5331	broad.mit.edu	37	11	64026576	64026576	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:64026576G>A	ENST00000540288.1	+	13	1488	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H|PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	462	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGATGGGCCGTATCCTGGTG	0.706																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1384-1386)cGt>cAt		phospholipase C, beta 3 (phosphatidylinositol-specific)							17.0	23.0	21.0					11																	64026576		2200	4296	6496	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64026576G>A	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1385G>A	11.37:g.64026576G>A	ENSP00000443631:p.Arg462His					PLCB3_ENST00000279230.6_Missense_Mutation_p.R462H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R395H	p.R462H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			13	1488	+			462			PI-PLC X-box.		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1385G>A	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196608	0.79015	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.66995	-0.24;-0.24;-0.24	4.58	4.58	0.56647	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.123452	0.53938	D	0.000042	T	0.74230	0.3689	M	0.77486	2.375	0.45464	D	0.998435	D;D	0.63880	0.993;0.979	P;P	0.53593	0.73;0.697	T	0.78178	-0.2305	10	0.87932	D	0	.	9.9241	0.41481	0.0964:0.0:0.9036:0.0	.	395;462	G5E960;Q01970	.;PLCB3_HUMAN	H	462;462;395	ENSP00000279230:R462H;ENSP00000443631:R462H;ENSP00000324660:R395H	ENSP00000279230:R462H	R	+	2	0	PLCB3	63783152	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	4.876000	0.63079	2.111000	0.64477	0.561000	0.74099	CGT		0.706	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			4	133	0	0	0	1	0	4	133				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			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.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	392	1	0	5.50884e-06	1	5.72822e-06	8	392				
CTTNBP2	83992	broad.mit.edu	37	7	117432633	117432633	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:117432633G>A	ENST00000160373.3	-	4	708	c.617C>T	c.(616-618)aCg>aTg	p.T206M	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	206					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTCATTCGTCTTTTTCTT	0.463																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(616-618)aCg>aTg		cortactin binding protein 2							144.0	134.0	137.0					7																	117432633		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432633G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.617C>T	7.37:g.117432633G>A	ENSP00000160373:p.Thr206Met						p.T206M	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	708	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		206					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.617C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396356	0.11638	.	.	ENSG00000077063	ENST00000160373	T	0.64260	-0.09	5.77	3.96	0.45880	.	0.457226	0.27139	N	0.020745	T	0.59945	0.2231	M	0.71581	2.175	0.25918	N	0.983145	B	0.19445	0.036	B	0.20384	0.029	T	0.56553	-0.7960	10	0.54805	T	0.06	-14.2498	10.3555	0.43960	0.0669:0.2536:0.6795:0.0	.	206	Q8WZ74	CTTB2_HUMAN	M	206	ENSP00000160373:T206M	ENSP00000160373:T206M	T	-	2	0	CTTNBP2	117219869	0.591000	0.26824	0.005000	0.12908	0.249000	0.25844	2.379000	0.44318	0.899000	0.36444	0.650000	0.86243	ACG		0.463	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		51	278	0	0	0	1	0	51	278				
SPAG17	200162	broad.mit.edu	37	1	118539321	118539321	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:118539321A>T	ENST00000336338.5	-	33	4887	c.4822T>A	c.(4822-4824)Ttg>Atg	p.L1608M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1608						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCATCTTCCAATTTTTTTTCA	0.353																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4822-4824)Ttg>Atg		sperm associated antigen 17							75.0	78.0	77.0					1																	118539321		2203	4298	6501	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118539321A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4822T>A	1.37:g.118539321A>T	ENSP00000337804:p.Leu1608Met						p.L1608M	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	33	4887	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1608					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4822T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	9.921	1.212165	0.22289	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19532	2.14	5.2	-6.3	0.02007	.	2.024170	0.01645	N	0.024290	T	0.05181	0.0138	L	0.47716	1.5	0.09310	N	1	B	0.22683	0.073	B	0.18561	0.022	T	0.22103	-1.0226	10	0.34782	T	0.22	.	4.8476	0.13521	0.2527:0.0:0.3757:0.3716	.	1608	Q6Q759	SPG17_HUMAN	M	1608;88	ENSP00000337804:L1608M	ENSP00000337804:L1608M	L	-	1	2	SPAG17	118340844	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.236000	0.09003	-1.493000	0.01835	-0.339000	0.08088	TTG		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		5	228	0	0	0	1	0	5	228				
HTRA2	27429	broad.mit.edu	37	2	74758082	74758082	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:74758082G>A	ENST00000258080.3	+	3	1386	c.756G>A	c.(754-756)cgG>cgA	p.R252R	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	252	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CTGATGTCCGGCAAGGGGAGT	0.552																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(754-756)cgG>cgA		HtrA serine peptidase 2							190.0	196.0	194.0					2																	74758082		2203	4300	6503	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74758082G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.756G>A	2.37:g.74758082G>A						HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Intron	p.R252R	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			3	1386	+			252			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.756G>A	CCDS1951.1																																																																																				0.552	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		7	1223	0	0	0	1	0	7	1223				
SLC16A10	117247	broad.mit.edu	37	6	111493921	111493921	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:111493921G>T	ENST00000368851.5	+	2	542	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	123					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCTCTCCATGGGGATGATTTT	0.428																																						ENST00000368851.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(367-369)Ggg>Tgg		solute carrier family 16 (aromatic amino acid transporter), member 10							156.0	143.0	148.0					6																	111493921		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111493921G>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.367G>T	6.37:g.111493921G>T	ENSP00000357844:p.Gly123Trp					SLC16A10_ENST00000465319.1_3'UTR	p.G123W	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	2	542	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	123					B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.367G>T	CCDS5089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.741282|4.741282	0.89573|0.89573	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000535637;ENST00000368851;ENST00000368853|ENST00000419619;ENST00000439288	T|.	0.56103|.	0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Major facilitator superfamily domain, general substrate transporter (1);|.	0.092388|.	0.85682|.	D|.	0.000000|.	D|D	0.85344|0.85344	0.5675|0.5675	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88182|0.88182	0.2871|0.2871	10|5	0.87932|.	D|.	0|.	.|.	19.7204|19.7204	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;123|.	Q8TF71;Q05BR4|.	MOT10_HUMAN;.|.	W|C	123;123;14|8	ENSP00000357844:G123W|.	ENSP00000357844:G123W|.	G|W	+|+	1|3	0|0	SLC16A10|SLC16A10	111600614|111600614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.414000|9.414000	0.97362|0.97362	2.662000|2.662000	0.90505|0.90505	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.428	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			22	360	1	0	2.70639e-06	1	2.82668e-06	22	360				
DUPD1	338599	broad.mit.edu	37	10	76797813	76797813	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:76797813G>A	ENST00000338487.5	-	3	443	c.444C>T	c.(442-444)gtC>gtT	p.V148V		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	148	Substrate binding. {ECO:0000305}.|Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGCGGCCCATGACGCAGTGAA	0.617																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(442-444)gtC>gtT		dual specificity phosphatase and pro isomerase domain containing 1							59.0	52.0	54.0					10																	76797813		2203	4300	6503	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76797813G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.444C>T	10.37:g.76797813G>A							p.V148V	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			3	443	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		148			Substrate binding (Probable).|Tyrosine-protein phosphatase.		B2RP93	Silent	SNP	ENST00000338487.5	37	c.444C>T	CCDS31223.1																																																																																				0.617	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		41	285	0	0	0	1	0	41	285				
PARD6A	50855	broad.mit.edu	37	16	67695975	67695975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67695975C>T	ENST00000219255.3	+	3	546	c.466C>T	c.(466-468)Cga>Tga	p.R156*	PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000219251.8_5'Flank|ACD_ENST00000393919.4_5'Flank|PARD6A_ENST00000458121.2_Nonsense_Mutation_p.R155*			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	156	Interaction with PARD3 and CDC42. {ECO:0000250}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGAGACCCACCGACGGGTGCG	0.647																																						ENST00000458121.2																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(463-465)Cga>Tga		par-6 family cell polarity regulator alpha							64.0	67.0	66.0					16																	67695975		2198	4300	6498	SO:0001587	stop_gained	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67695975C>T		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.466C>T	16.37:g.67695975C>T	ENSP00000219255:p.Arg156*					PARD6A_ENST00000219255.3_Nonsense_Mutation_p.R156*|PARD6A_ENST00000602551.1_Nonsense_Mutation_p.R126*	p.R155*	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	554	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	156			Interaction with PARD3 and CDC42 (By similarity).		O14911|Q9NPJ7	Nonsense_Mutation	SNP	ENST00000219255.3	37	c.463C>T	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342839	0.82022	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	.	.	.	5.07	4.1	0.47936	.	0.073470	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4892	11.7101	0.51620	0.3209:0.6791:0.0:0.0	.	.	.	.	X	155;156	.	ENSP00000219255:R156X	R	+	1	2	PARD6A	66253476	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.149000	0.42244	1.091000	0.41335	0.563000	0.77884	CGA		0.647	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948		62	416	0	0	0	1	0	62	416				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		28	123	0	0	0	1	0	28	123				
ZBP1	81030	broad.mit.edu	37	20	56186849	56186849	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:56186849T>G	ENST00000371173.3	-	6	985	c.808A>C	c.(808-810)Aat>Cat	p.N270H	ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H|ZBP1_ENST00000340462.4_Missense_Mutation_p.N247H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	270					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCATCTCATTGCTGTGTCCC	0.632																																						ENST00000340462.4																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(739-741)Aat>Cat		Z-DNA binding protein 1							38.0	39.0	39.0					20																	56186849		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186849T>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.808A>C	20.37:g.56186849T>G	ENSP00000360215:p.Asn270His					ZBP1_ENST00000371173.3_Missense_Mutation_p.N270H|ZBP1_ENST00000343535.4_Missense_Mutation_p.N270H|ZBP1_ENST00000395822.3_Missense_Mutation_p.N195H	p.N247H			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	1019	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		270					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.739A>C	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216027	0.39201	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.23348	2.29;1.91;2.29;2.26	3.25	2.09	0.27110	.	0.365705	0.19940	N	0.102675	T	0.38904	0.1058	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07233	-1.0783	10	0.87932	D	0	-23.1631	6.3696	0.21473	0.0:0.0:0.2548:0.7452	.	270;195;270	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	H	270;195;247;270;270	ENSP00000360215:N270H;ENSP00000379167:N195H;ENSP00000344954:N247H;ENSP00000340584:N270H	ENSP00000344954:N247H	N	-	1	0	ZBP1	55620255	0.552000	0.26505	0.002000	0.10522	0.036000	0.12997	1.422000	0.34826	0.592000	0.29728	0.454000	0.30748	AAT		0.632	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		16	112	0	0	0	1	0	16	112				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		8	817	0	0	0	1	0	8	817				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	785	0	0	0	1	0	6	785				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		4	313	0	0	0	1	0	4	313				
KRTAP4-4	84616	broad.mit.edu	37	17	39316773	39316773	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:39316773C>T	ENST00000390661.3	-	1	210	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	57	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCCTGCAGCAGG	0.662																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(169-171)agG>agA		keratin associated protein 4-4							43.0	51.0	48.0					17																	39316773		2201	4298	6499	SO:0001819	synonymous_variant	84616					keratin filament		g.chr17:39316773C>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.171G>A	17.37:g.39316773C>T							p.R57R	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	210	-		Breast(137;0.000496)	57		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Silent	SNP	ENST00000390661.3	37	c.171G>A	CCDS11383.1																																																																																				0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			7	498	0	0	0	1	0	7	498				
AHNAK	79026	broad.mit.edu	37	11	62297671	62297671	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:62297671C>T	ENST00000378024.4	-	5	4492	c.4218G>A	c.(4216-4218)ctG>ctA	p.L1406L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1406					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTTGGGCAGCTTCACAT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(4216-4218)ctG>ctA		AHNAK nucleoprotein							196.0	210.0	205.0					11																	62297671		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297671C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4218G>A	11.37:g.62297671C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L1406L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4492	-		Melanoma(852;0.155)	1406					A1A586	Silent	SNP	ENST00000378024.4	37	c.4218G>A	CCDS31584.1																																																																																				0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	1205	0	0	0	1	0	7	1205				
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64.0	76.0	73.0					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		9	939	0	0	0	1	0	9	939				
TNRC6B	23112	broad.mit.edu	37	22	40662850	40662850	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:40662850C>T	ENST00000454349.2	+	5	2827	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.P872P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	872	Interaction with argonaute proteins.|Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ATGAGGAACCCAGTGGTTGGG	0.552																																						ENST00000454349.2																			0				breast(1)	1						c.(2614-2616)ccC>ccT		trinucleotide repeat containing 6B							39.0	41.0	40.0					22																	40662850		2109	4237	6346	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662850C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2616C>T	22.37:g.40662850C>T						TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Silent_p.P872P|TNRC6B_ENST00000301923.9_Intron	p.P872P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2827	+			872			Pro-rich.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.2616C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	9.556	1.117318	0.20795	.	.	ENSG00000100354	ENST00000446273	T	0.24538	1.85	5.46	5.46	0.80206	.	0.052766	0.85682	D	0.000000	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16217	-1.0410	7	0.72032	D	0.01	-4.2812	6.4872	0.22095	0.3133:0.6:0.0:0.0866	.	.	.	.	L	615	ENSP00000409429:P615L	ENSP00000409429:P615L	P	+	2	0	TNRC6B	38992796	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.325000	0.19628	2.561000	0.86390	0.561000	0.74099	CCA		0.552	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				27	135	0	0	0	1	0	27	135				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		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	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		9	269	0	0	0	1	0	9	269				
GIF	2694	broad.mit.edu	37	11	59599213	59599213	+	Missense_Mutation	SNP	G	G	A	rs370902375		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:59599213G>A	ENST00000257248.2	-	8	1177	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	GIF_ENST00000541311.1_Missense_Mutation_p.A352V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	377					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.A377V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AACATTTTCCGCGATATTGTT	0.368																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			1	Substitution - Missense(1)	p.A377V(1)	upper_aerodigestive_tract(1)	large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1054-1056)gCg>gTg		gastric intrinsic factor (vitamin B synthesis)		G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	122.0	110.0	114.0		1130	4.4	1.0	11		114	2,8588	2.2+/-6.3	0,2,4293	no	missense	GIF	NM_005142.2	64	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	377/418	59599213	3,12989	2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59599213G>A	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1130C>T	11.37:g.59599213G>A	ENSP00000257248:p.Ala377Val					GIF_ENST00000257248.2_Missense_Mutation_p.A377V	p.A352V			P27352	IF_HUMAN			8	1289	-			377					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.1055C>T	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111534	0.20714	2.27E-4	2.33E-4	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42131	1.09;0.98	5.41	4.41	0.53225	.	0.412532	0.22845	N	0.054935	T	0.28234	0.0697	L	0.53249	1.67	0.20821	N	0.999847	P	0.43909	0.821	B	0.17098	0.017	T	0.35076	-0.9803	10	0.25751	T	0.34	-10.6094	12.1115	0.53842	0.0:0.0:0.8172:0.1828	.	377	P27352	IF_HUMAN	V	377;352	ENSP00000257248:A377V;ENSP00000440427:A352V	ENSP00000257248:A377V	A	-	2	0	GIF	59355789	0.563000	0.26594	0.980000	0.43619	0.764000	0.43329	1.685000	0.37659	2.532000	0.85374	0.655000	0.94253	GCG		0.368	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		39	325	0	0	0	1	0	39	325				
SUMO3	6612	broad.mit.edu	37	21	46229016	46229016	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46229016C>T	ENST00000397898.3	-	3	250	c.168G>A	c.(166-168)caG>caA	p.Q56Q	SUMO3_ENST00000411651.2_Silent_p.Q94Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.Q56Q|SUMO3_ENST00000397893.3_Silent_p.Q56Q					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGAATCTGATCTGCCTCATTG	0.532																																						ENST00000332859.6																			0				prostate(1)	1						c.(166-168)caG>caA		small ubiquitin-like modifier 3							135.0	102.0	114.0					21																	46229016		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46229016C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.168G>A	21.37:g.46229016C>T						SUMO3_ENST00000397893.3_Silent_p.Q56Q|SUMO3_ENST00000397898.3_Silent_p.Q56Q|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.Q94Q	p.Q56Q	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	3	328	-			56			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.168G>A																																																																																					0.532	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			31	215	0	0	0	1	0	31	215				
TNKS1BP1	85456	broad.mit.edu	37	11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:57077492G>A	ENST00000532437.1	-	5	3004	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	898	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.A898V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A898V(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2692-2694)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							187.0	185.0	186.0					11																	57077492		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077492G>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2693C>T	11.37:g.57077492G>A	ENSP00000437271:p.Ala898Val					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V	p.A898V			Q9C0C2	TB182_HUMAN			5	3004	-		all_epithelial(135;0.21)	898			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2693C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678909	0.29783	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34667	1.35;1.35	4.47	-3.24	0.05094	.	1.939410	0.03105	N	0.161631	T	0.27697	0.0681	L	0.29908	0.895	0.09310	N	0.999999	B	0.32829	0.386	B	0.28011	0.085	T	0.42241	-0.9463	10	0.59425	D	0.04	0.0096	11.9863	0.53149	0.0805:0.6124:0.3072:0.0	.	898	Q9C0C2	TB182_HUMAN	V	898	ENSP00000350990:A898V;ENSP00000437271:A898V	ENSP00000350990:A898V	A	-	2	0	TNKS1BP1	56834068	0.000000	0.05858	0.003000	0.11579	0.360000	0.29518	0.096000	0.15147	-0.334000	0.08463	0.462000	0.41574	GCC		0.532	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		6	940	0	0	0	1	0	6	940				
LILRB5	10990	broad.mit.edu	37	19	54754946	54754946	+	Intron	SNP	G	G	A	rs146755009	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54754946G>A	ENST00000316219.5	-	13	1734				LILRB5_ENST00000450632.1_Silent_p.P563P|LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGTGGGGAGGGAGGAGAGG	0.577													.|||	1524	0.304313	0.2405	0.2262	5008	,	,		13329	0.5546		0.2356	False		,,,				2504	0.2587					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1687-1689)ccC>ccT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754946G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-150C>T	19.37:g.54754946G>A						LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron	p.P563P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1766	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		570					Q8N760	Silent	SNP	ENST00000316219.5	37	c.1689C>T	CCDS12885.1																																																																																				0.577	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	182	0	0	0	1	0	5	182				
FGD4	121512	broad.mit.edu	37	12	32735087	32735087	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:32735087G>A	ENST00000427716.2	+	4	710	c.286G>A	c.(286-288)Gca>Aca	p.A96T	FGD4_ENST00000531134.1_Missense_Mutation_p.A181T|FGD4_ENST00000546442.1_Missense_Mutation_p.A3T|FGD4_ENST00000472289.1_Missense_Mutation_p.A96T|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.A233T|FGD4_ENST00000525053.1_Missense_Mutation_p.A208T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	96	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTAATGGCAGCACAAAACCA	0.473																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(286-288)Gca>Aca		FYVE, RhoGEF and PH domain containing 4							150.0	121.0	131.0					12																	32735087		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32735087G>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.286G>A	12.37:g.32735087G>A	ENSP00000394487:p.Ala96Thr					FGD4_ENST00000472289.1_Missense_Mutation_p.A96T|FGD4_ENST00000525053.1_Missense_Mutation_p.A208T|FGD4_ENST00000534526.2_Missense_Mutation_p.A233T|FGD4_ENST00000546442.1_Missense_Mutation_p.A3T|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Missense_Mutation_p.A181T	p.A96T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			4	710	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		96			Actin filament-binding (By similarity).		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.286G>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359446	0.41801	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.73469	-0.75;-0.68;-0.62;-0.52;-0.67	4.91	3.03	0.35002	.	0.326617	0.22077	N	0.064943	T	0.58722	0.2142	L	0.29908	0.895	0.36848	D	0.887742	B;B;B;P	0.35107	0.255;0.255;0.008;0.484	B;B;B;B	0.33254	0.071;0.071;0.005;0.16	T	0.57148	-0.7861	10	0.34782	T	0.22	-2.2513	8.4	0.32581	0.0827:0.1553:0.762:0.0	.	208;181;96;96	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	T	233;181;96;96;3;208;77	ENSP00000449273:A233T;ENSP00000431323:A181T;ENSP00000394487:A96T;ENSP00000446695:A3T;ENSP00000433666:A208T	ENSP00000379089:A96T	A	+	1	0	FGD4	32626354	0.051000	0.20477	0.005000	0.12908	0.899000	0.52679	0.760000	0.26475	0.459000	0.27016	0.467000	0.42956	GCA		0.473	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		5	390	0	0	0	1	0	5	390				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	527	1	0	0.000673444	1	0.000685105	7	527				
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A	rs373700695		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:60921843G>A	ENST00000252999.3	-	8	1152	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	362	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATGGCCGTAGCAGTTAC	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1084-1086)taC>taT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	A		1,4397	2.1+/-5.4	0,1,2198	29.0	32.0	31.0		1086	-9.7	0.3	20		31	0,8590		0,0,4295	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		362/3696	60921843	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921843G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1086C>T	20.37:g.60921843G>A						LAMA5_ENST00000370677.3_Silent_p.Y362Y|LAMA5_ENST00000370692.3_Silent_p.Y362Y	p.Y362Y	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		8	1152	-	Breast(26;1.57e-08)		362			Laminin EGF-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.1086C>T	CCDS33502.1																																																																																				0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	142	0	0	0	1	0	4	142				
ITPR3	3710	broad.mit.edu	37	6	33659689	33659689	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33659689G>A	ENST00000374316.5	+	55	8502	c.7442G>A	c.(7441-7443)cGc>cAc	p.R2481H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2481					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GACATTCTCCGCAAGCCCTCC	0.592																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7441-7443)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							192.0	170.0	177.0					6																	33659689		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33659689G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7442G>A	6.37:g.33659689G>A	ENSP00000363435:p.Arg2481His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2481H	p.R2481H			Q14573	ITPR3_HUMAN			55	8502	+			2481					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.7442G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316045	0.95655	.	.	ENSG00000096433	ENST00000374316	D	0.92595	-3.07	4.68	4.68	0.58851	Ion transport (1);	0.216428	0.47093	D	0.000255	D	0.96147	0.8744	M	0.86651	2.83	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.68192	0.956;0.768	D	0.96515	0.9381	10	0.87932	D	0	-33.0666	18.2265	0.89918	0.0:0.0:1.0:0.0	.	2481;2151	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2481	ENSP00000363435:R2481H	ENSP00000363435:R2481H	R	+	2	0	ITPR3	33767667	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.650000	0.98490	2.615000	0.88500	0.555000	0.69702	CGC		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	856	0	0	0	1	0	7	856				
NEGR1	257194	broad.mit.edu	37	1	71873147	71873147	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:71873147C>T	ENST00000357731.5	-	7	1286	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000585415.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K|ZRANB2-AS2_ENST00000586006.1_RNA|NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1045-1047)aaG>aaA		neuronal growth regulator 1							85.0	85.0	85.0					1																	71873147		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:71873147C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1047G>A	1.37:g.71873147C>T						NEGR1_ENST00000434200.1_Silent_p.K303K|ZRANB2-AS2_ENST00000430605.1_RNA|NEGR1_ENST00000306821.3_Silent_p.K221K	p.K349K	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	7	1286	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	349					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.1047G>A	CCDS661.1																																																																																				0.428	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		29	176	0	0	0	1	0	29	176				
KRT25	147183	broad.mit.edu	37	17	38910225	38910225	+	Missense_Mutation	SNP	C	C	A	rs531531024		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:38910225C>A	ENST00000312150.4	-	3	616	c.556G>T	c.(556-558)Gtc>Ttc	p.V186F		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AACCCATTGACATCAGCCTCT	0.408																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(556-558)Gtc>Ttc		keratin 25							127.0	117.0	120.0					17																	38910225		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910225C>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.556G>T	17.37:g.38910225C>A	ENSP00000310573:p.Val186Phe						p.V186F	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			3	616	-		Breast(137;0.00526)	186			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.556G>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439949	0.83885	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89050	-2.46	5.92	5.92	0.95590	Filament (1);	0.000000	0.64402	D	0.000020	D	0.89427	0.6712	L	0.55990	1.75	0.45914	D	0.998753	P	0.44690	0.841	P	0.52267	0.694	D	0.89193	0.3552	10	0.87932	D	0	.	7.7797	0.29058	0.0:0.81:0.0:0.19	.	186	Q7Z3Z0	K1C25_HUMAN	F	186	ENSP00000310573:V186F	ENSP00000310573:V186F	V	-	1	0	KRT25	36163751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.793000	0.55484	2.803000	0.96430	0.591000	0.81541	GTC		0.408	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		6	439	1	0	0.217242	1	0.217242	6	439				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	1054	0	0	0	1	0	6	1054				
PMFBP1	83449	broad.mit.edu	37	16	72159998	72159998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:72159998G>A	ENST00000237353.10	-	15	2383	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.Q713*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000537792.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	713						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGGGCCTGCAGGCTCATT	0.527																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2137-2139)Cag>Tag		polyamine modulated factor 1 binding protein 1							172.0	167.0	168.0					16																	72159998		2198	4300	6498	SO:0001587	stop_gained	83449							g.chr16:72159998G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2122C>T	16.37:g.72159998G>A	ENSP00000237353:p.Gln708*					PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q563*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q708*	p.Q713*			Q8TBY8	PMFBP_HUMAN			15	2295	-		Ovarian(137;0.179)	713					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000237353.10	37	c.2137C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	38	6.764837	0.97821	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	3.65	0.376	0.16193	.	0.562263	0.15003	N	0.286009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-8.2085	6.0918	0.19999	0.0:0.1753:0.4053:0.4194	.	.	.	.	X	713;708;563	.	ENSP00000237353:Q708X	Q	-	1	0	PMFBP1	70717499	0.865000	0.29922	0.202000	0.23494	0.018000	0.09664	0.360000	0.20250	0.113000	0.18004	-0.172000	0.13284	CAG		0.527	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		9	896	0	0	0	1	0	9	896				
GABRB1	2560	broad.mit.edu	37	4	47163392	47163392	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:47163392T>C	ENST00000295454.3	+	4	659	c.367T>C	c.(367-369)Ttt>Ctt	p.F123L	GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	123					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGACACCTACTTTCTGAATGA	0.443																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(367-369)Ttt>Ctt		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						160.0	155.0	157.0					4																	47163392		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47163392T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.367T>C	4.37:g.47163392T>C	ENSP00000295454:p.Phe123Leu					GABRB1_ENST00000538619.1_Missense_Mutation_p.F53L	p.F123L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			4	659	+			123					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.367T>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740563	0.89573	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.73363	-0.74;-0.74;-0.74	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.86163	0.5867	M	0.82193	2.58	0.58432	D	0.999997	D;D	0.62365	0.991;0.979	P;D	0.74023	0.86;0.982	D	0.87603	0.2498	10	0.54805	T	0.06	-13.1774	14.0523	0.64745	0.0:0.0:0.0:1.0	.	53;123	F5GXV5;P18505	.;GBRB1_HUMAN	L	90;123;53	ENSP00000426753:F90L;ENSP00000295454:F123L;ENSP00000440330:F53L	ENSP00000295454:F123L	F	+	1	0	GABRB1	46858149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.109000	0.64355	0.528000	0.53228	TTT		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			71	500	0	0	0	1	0	71	500				
ANKMY1	51281	broad.mit.edu	37	2	241468562	241468562	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:241468562C>T	ENST00000272972.3	-	4	792	c.578G>A	c.(577-579)cGc>cAc	p.R193H	ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R282H|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R193H|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	193							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GAGGAAGATGCGGGCGTCCAG	0.478																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(577-579)cGc>cAc		ankyrin repeat and MYND domain containing 1							150.0	150.0	150.0					2																	241468562		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468562C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.578G>A	2.37:g.241468562C>T	ENSP00000272972:p.Arg193His					ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.R193H|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R282H	p.R193H			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	944	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	193					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.578G>A	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.340001	0.01277	.	.	ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.79	-7.25	0.01470	.	1.705140	0.03610	N	0.234726	T	0.28665	0.0710	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	10	0.21540	T	0.41	-18.8628	16.8677	0.86033	0.0:0.1398:0.0:0.8602	.	193;193	Q4ZFV3;Q9P2S6	.;ANKY1_HUMAN	H	193;193;282;193;193	ENSP00000272972:R193H;ENSP00000375847:R193H;ENSP00000385887:R282H;ENSP00000407015:R193H	ENSP00000272972:R193H	R	-	2	0	ANKMY1	241117235	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.273000	0.02823	-1.455000	0.01923	-0.136000	0.14681	CGC		0.478	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		5	538	0	0	0	1	0	5	538				
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.Q61H(153)	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)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(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.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		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.chr12:25380275T>G	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.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	p.Q61H	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)		3	374	-	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)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		35	234	0	0	0	1	0	35	234				
RASGRP1	10125	broad.mit.edu	37	15	38791143	38791143	+	Silent	SNP	G	G	A	rs374227836		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000539159.1_Silent_p.C527C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1723-1725)tgC>tgT		RAS guanyl releasing protein 1 (calcium and DAG-regulated)		G	,	0,3850		0,0,1925	260.0	251.0	254.0		1620,1725	-10.2	0.7	15		254	1,8293		0,1,4146	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	,	540/763,575/798	38791143	1,12143	1925	4147	6072	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791143G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1725C>T	15.37:g.38791143G>A						RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Silent_p.C527C	p.C575C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	15	1902	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	575					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1725C>T	CCDS45222.1																																																																																				0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		8	994	0	0	0	1	0	8	994				
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582																																						ENST00000406386.3																			2	Substitution - Missense(2)	p.K413R(2)	NS(1)|lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1237-1239)aAa>aGa		TRIO and F-actin binding protein							119.0	123.0	122.0					22																	38119801		1926	4146	6072	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119801A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1238A>G	22.37:g.38119801A>G	ENSP00000384312:p.Lys413Arg					RP1-37E16.12_ENST00000455236.1_RNA	p.K413R	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1493	+	Melanoma(58;0.0574)		413					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1238A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	2.948	-0.217370	0.06101	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.16073	2.37	2.48	-4.11	0.03928	.	.	.	.	.	T	0.05135	0.0137	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	9	0.44086	T	0.13	.	4.7887	0.13238	0.3678:0.1561:0.4761:0.0	.	413	Q9H2D6	TARA_HUMAN	R	413	ENSP00000384312:K413R	ENSP00000384312:K413R	K	+	2	0	TRIOBP	36449747	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.094000	0.11094	-1.251000	0.02494	-1.450000	0.01041	AAA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	532	0	0	0	1	0	5	532				
KCNQ3	3786	broad.mit.edu	37	8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:133142050G>A	ENST00000388996.4	-	15	2498	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	693					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.E694fs*12(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGTGGTTCCGGGGGGCCTGT	0.547																																						ENST00000388996.4																			1	Insertion - Frameshift(1)	p.E694fs*12(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2077-2079)cCg>cTg		potassium voltage-gated channel, KQT-like subfamily, member 3							89.0	79.0	82.0					8																	133142050		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133142050G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2078C>T	8.37:g.133142050G>A	ENSP00000373648:p.Pro693Leu					KCNQ3_ENST00000521134.1_Missense_Mutation_p.P573L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P681L	p.P693L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2498	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		693					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2078C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189602	0.21954	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98901	-5.21;-5.17;-5.22	5.49	3.51	0.40186	.	0.504521	0.23192	N	0.050897	D	0.91872	0.7427	N	0.08118	0	0.47737	D	0.999504	P;B	0.35328	0.495;0.178	B;B	0.17722	0.019;0.012	D	0.88843	0.3314	10	0.37606	T	0.19	-9.8678	3.0642	0.06209	0.0918:0.1206:0.4274:0.3601	.	681;693	E7ET42;O43525	.;KCNQ3_HUMAN	L	693;573;681;670;572	ENSP00000373648:P693L;ENSP00000429799:P573L;ENSP00000428790:P681L	ENSP00000373648:P693L	P	-	2	0	KCNQ3	133211232	0.989000	0.36119	0.712000	0.30502	0.718000	0.41266	2.135000	0.42112	1.330000	0.45394	0.549000	0.68633	CCG		0.547	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		42	518	0	0	0	1	0	42	518				
RAB9BP1	9366	broad.mit.edu	37	5	104435497	104435497	+	lincRNA	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:104435497C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCTTATATTTCGCTGATGTGA	0.413																																						ENST00000522464.1																			0																																																			0							g.chr5:104435497C>T																													5.37:g.104435497C>T						RP11-6N13.1_ENST00000503650.1_lincRNA								0	68	-									RNA	SNP	ENST00000522464.1	37																																																																																						0.413	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1			14	97	0	0	0	1	0	14	97				
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																						ENST00000502935.1																			4	Substitution - coding silent(4)	p.C502C(2)|p.C545C(2)	lung(4)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1633-1635)tgC>tgT		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							174.0	154.0	161.0					10																	111630550		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111630550G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A						XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369680.4_Silent_p.C502C	p.C545C			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	18	1754	-		Breast(234;0.174)	502						Silent	SNP	ENST00000502935.1	37	c.1635C>T	CCDS7560.2																																																																																				0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			5	521	0	0	0	1	0	5	521				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		8	961	0	0	0	1	0	8	961				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			0							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			7	96	0	0	0	1	0	7	96				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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		9	276	0	0	0	1	0	9	276				
CASS4	57091	broad.mit.edu	37	20	55012332	55012332	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:55012332G>T	ENST00000360314.3	+	3	374	c.149G>T	c.(148-150)gGt>gTt	p.G50V	CASS4_ENST00000371336.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	50	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAAGCGAGGGTTGGTGGAAG	0.602																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(148-150)gGt>gTt		Cas scaffolding protein family member 4							65.0	61.0	62.0					20																	55012332		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55012332G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.149G>T	20.37:g.55012332G>T	ENSP00000353462:p.Gly50Val					CASS4_ENST00000360314.3_Missense_Mutation_p.G50V|CASS4_ENST00000434344.1_Missense_Mutation_p.G50V	p.G50V	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			2	350	+			50			SH3.		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.149G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274043	0.80580	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.74737	-0.87;-0.87;-0.87	5.71	5.71	0.89125	Src homology-3 domain (4);	0.051653	0.85682	D	0.000000	D	0.91586	0.7342	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.93821	0.7119	10	0.87932	D	0	-42.9102	19.8625	0.96789	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DII4;Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;.;CASS4_HUMAN	V	50	ENSP00000353462:G50V;ENSP00000360387:G50V;ENSP00000410027:G50V	ENSP00000353462:G50V	G	+	2	0	CASS4	54445739	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.431000	0.80335	2.689000	0.91719	0.655000	0.94253	GGT		0.602	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		44	408	1	0	4.44401e-20	1	4.94949e-20	44	408				
ARID1B	57492	broad.mit.edu	37	6	157488191	157488191	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:157488191G>A	ENST00000350026.5	+	9	2859	c.2858G>A	c.(2857-2859)gGc>gAc	p.G953D	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D|ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000346085.5_Missense_Mutation_p.G966D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	953					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGTTTCCCCGGCATGAACCAG	0.537																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2896-2898)gGc>gAc		AT rich interactive domain 1B (SWI1-like)							215.0	206.0	209.0					6																	157488191		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157488191G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2858G>A	6.37:g.157488191G>A	ENSP00000055163:p.Gly953Asp					ARID1B_ENST00000367148.1_Missense_Mutation_p.G953D|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.G953D|ARID1B_ENST00000275248.4_Missense_Mutation_p.G895D	p.G966D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	10	2898	+		Breast(66;0.000162)|Ovarian(120;0.0265)	953					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2897G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901677	0.52227	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	T;T;T;T;T;T;T	0.25250	4.67;4.65;4.75;4.74;4.44;2.16;1.81	5.64	4.72	0.59763	.	0.204799	0.51477	D	0.000092	T	0.10121	0.0248	N	0.22421	0.69	0.44668	D	0.997656	P;P;P;P	0.49783	0.928;0.791;0.763;0.879	B;B;B;P	0.44897	0.44;0.196;0.387;0.463	T	0.04140	-1.0974	10	0.28530	T	0.3	.	10.2908	0.43594	0.0:0.1331:0.6468:0.22	.	203;953;966;895	Q8NFD5-4;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	D	966;953;953;895;370;422;375;20	ENSP00000344546:G966D;ENSP00000055163:G953D;ENSP00000356116:G953D;ENSP00000275248:G895D;ENSP00000412835:G422D;ENSP00000313006:G375D;ENSP00000383596:G20D	ENSP00000275248:G895D	G	+	2	0	ARID1B	157529883	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	2.809000	0.47971	2.657000	0.90304	0.655000	0.94253	GGC		0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		9	919	0	0	0	1	0	9	919				
ABCA13	154664	broad.mit.edu	37	7	48315041	48315041	+	Silent	SNP	G	G	A	rs192083637	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:48315041G>A	ENST00000435803.1	+	17	5802	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1926					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						AGATATTACCGTTTGTCCCAC	0.373													g|||	6	0.00119808	0.0023	0.0	5008	,	,		18660	0.0		0.003	False		,,,				2504	0.0					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.(5776-5778)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 13		G		14,3646		0,14,1816	123.0	125.0	124.0		5778	-5.5	0.0	7		124	26,8146		0,26,4060	no	coding-synonymous	ABCA13	NM_152701.3		0,40,5876	AA,AG,GG		0.3182,0.3825,0.3381		1926/5059	48315041	40,11792	1830	4086	5916	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315041G>A	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.5778G>A	7.37:g.48315041G>A							p.P1926P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5802	+			1926					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.5778G>A	CCDS47584.1																																																																																				0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		98	521	0	0	0	1	0	98	521				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		5	371	0	0	0	1	0	5	371				
MTHFD2L	441024	broad.mit.edu	37	4	75041057	75041057	+	Missense_Mutation	SNP	G	G	A	rs201351553		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:75041057G>A	ENST00000395759.2	+	3	415	c.388G>A	c.(388-390)Gta>Ata	p.V130I	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	130					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ACTTTTGGACGTAACTGATCA	0.368																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(388-390)Gta>Ata		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							140.0	136.0	138.0					4																	75041057		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75041057G>A	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.388G>A	4.37:g.75041057G>A	ENSP00000379108:p.Val130Ile					MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V72I|MTHFD2L_ENST00000433372.1_5'UTR	p.V130I	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		3	415	+			72					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.388G>A	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	7.970	0.748962	0.15710	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29917	1.97;1.56;1.55;1.98	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.213853	0.50627	N	0.000109	T	0.16642	0.0400	N	0.16201	0.385	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.7782	6.9337	0.24455	0.8268:0.0:0.1732:0.0	.	130;72	Q9H903;Q9H903-3	MTD2L_HUMAN;.	I	130;72;72;72	ENSP00000379108:V130I;ENSP00000330982:V72I;ENSP00000352012:V72I;ENSP00000321984:V72I	ENSP00000321984:V72I	V	+	1	0	MTHFD2L	75259921	0.039000	0.19947	0.997000	0.53966	0.849000	0.48306	0.068000	0.14531	1.067000	0.40740	-0.268000	0.10319	GTA		0.368	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		5	303	0	0	0	1	0	5	303				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	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|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R	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		5	868	0	0	0	1	0	5	868				
DAZAP2	9802	broad.mit.edu	37	12	51636190	51636190	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:51636190G>A	ENST00000412716.3	+	4	1071	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	DAZAP2_ENST00000439799.2_Missense_Mutation_p.R70Q|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000449723.3_Missense_Mutation_p.R130Q|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.R120Q|DAZAP2_ENST00000549555.1_Silent_p.A126A|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000551313.1_Missense_Mutation_p.R92Q			Q15038	DAZP2_HUMAN	DAZ associated protein 2	152						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GTAACTCAGCGGAAGGGGAAC	0.542																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(454-456)cGg>cAg		DAZ associated protein 2							247.0	213.0	224.0					12																	51636190		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636190G>A	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.455G>A	12.37:g.51636190G>A	ENSP00000394699:p.Arg152Gln					DAZAP2_ENST00000551313.1_Missense_Mutation_p.R92Q|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549555.1_Silent_p.A126A|DAZAP2_ENST00000449723.3_Missense_Mutation_p.R130Q|DAZAP2_ENST00000439799.2_Missense_Mutation_p.R70Q|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Missense_Mutation_p.R120Q	p.R152Q			Q15038	DAZP2_HUMAN			4	1071	+			152					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.455G>A	CCDS8809.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749347	0.69533	.	.	ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	L	0.47716	1.5	0.54753	D	0.999989	D;D;P	0.65815	0.995;0.992;0.929	D;P;B	0.76575	0.988;0.857;0.159	T	0.63400	-0.6646	10	0.56958	D	0.05	-12.9467	18.4195	0.90584	0.0:0.0:1.0:0.0	.	120;70;152	C9JP84;C9JA96;Q15038	.;.;DAZP2_HUMAN	Q	152;70;120;130;92	ENSP00000394699:R152Q;ENSP00000398804:R70Q;ENSP00000446554:R120Q;ENSP00000412812:R130Q;ENSP00000447842:R92Q	ENSP00000394699:R152Q	R	+	2	0	DAZAP2	49922457	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.795000	0.91872	2.726000	0.93360	0.655000	0.94253	CGG		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		7	872	0	0	0	1	0	7	872				
LLGL1	3996	broad.mit.edu	37	17	18138848	18138848	+	Missense_Mutation	SNP	C	C	T	rs141275484		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:18138848C>T	ENST00000316843.4	+	11	1445	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	450					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGCTGCTGACGGGGTAGGTG	0.652																																						ENST00000316843.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1348-1350)aCg>aTg		lethal giant larvae homolog 1 (Drosophila)		C	MET/THR	0,4406		0,0,2203	93.0	80.0	84.0		1349	5.0	1.0	17	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	LLGL1	NM_004140.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	450/1065	18138848	1,13005	2203	4300	6503	SO:0001583	missense	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18138848C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1349C>T	17.37:g.18138848C>T	ENSP00000321537:p.Thr450Met						p.T450M	NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN			11	1445	+	all_neural(463;0.228)		450					A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	c.1349C>T	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090348	0.76756	0.0	1.16E-4	ENSG00000131899	ENST00000316843	T	0.33216	1.42	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);	0.090164	0.85682	D	0.000000	T	0.66867	0.2833	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76094	-0.3085	10	0.87932	D	0	-27.9792	17.6696	0.88213	0.0:1.0:0.0:0.0	.	450	Q15334	L2GL1_HUMAN	M	450	ENSP00000321537:T450M	ENSP00000321537:T450M	T	+	2	0	LLGL1	18079573	1.000000	0.71417	0.963000	0.40424	0.227000	0.25037	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	ACG		0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			4	245	0	0	0	1	0	4	245				
BAGE2	85319	broad.mit.edu	37	21	11098910	11098910	+	RNA	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:11098910G>A	ENST00000470054.1	-	0	15							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagctcagcgggagatacca	0.587																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098910G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098910G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	15	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.587	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	53	0	0	0	1	0	5	53				
ABCC3	8714	broad.mit.edu	37	17	48753771	48753771	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:48753771G>A	ENST00000285238.8	+	23	3280	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1067	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCATCAGGCCGCATCCTGAAC	0.557																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3199-3201)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						361.0	261.0	295.0					17																	48753771		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753771G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3200G>A	17.37:g.48753771G>A	ENSP00000285238:p.Arg1067His						p.R1067H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3280	+			1067			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3200G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484168	0.84854	.	.	ENSG00000108846	ENST00000285238	D	0.95103	-3.61	5.15	4.18	0.49190	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.059738	0.64402	D	0.000002	D	0.98128	0.9382	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99129	1.0852	10	0.87932	D	0	-11.9819	14.1106	0.65120	0.0733:0.0:0.9267:0.0	.	1067	O15438	MRP3_HUMAN	H	1067	ENSP00000285238:R1067H	ENSP00000285238:R1067H	R	+	2	0	ABCC3	46108770	1.000000	0.71417	0.861000	0.33841	0.756000	0.42949	7.885000	0.87282	1.292000	0.44672	0.609000	0.83330	CGC		0.557	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		7	1001	0	0	0	1	0	7	1001				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W	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_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_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	925	0	0	0	1	0	6	925				
ELMOD1	55531	broad.mit.edu	37	11	107462660	107462660	+	Intron	SNP	G	G	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:107462660G>C	ENST00000265840.7	+	1	180				ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000443271.2_Intron|AP000889.3_ENST00000600612.1_Missense_Mutation_p.L59F	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTGGGCTGTTGAGCTGCGCCT	0.657																																						ENST00000600612.1																			0											c.(175-177)ttG>ttC									16.0	18.0	17.0					11																	107462660		1927	4156	6083	SO:0001627	intron_variant	0							g.chr11:107462660G>C	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+525G>C	11.37:g.107462660G>C						ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron	p.L59F							1	190	+								B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.177G>C	CCDS44723.1																																																																																				0.657	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		10	51	0	0	0	1	0	10	51				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	415	0	0	0	1	0	6	415				
FBXL20	84961	broad.mit.edu	37	17	37420484	37420484	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:37420484G>A	ENST00000264658.6	-	14	1407	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W|FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W|FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	383					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.R383W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGTTCTATCCGCTCAAGGCTA	0.512																																						ENST00000264658.6																			1	Substitution - Missense(1)	p.R383W(1)	large_intestine(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1147-1149)Cgg>Tgg		F-box and leucine-rich repeat protein 20							155.0	136.0	142.0					17																	37420484		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37420484G>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.1147C>T	17.37:g.37420484G>A	ENSP00000264658:p.Arg383Trp					FBXL20_ENST00000577399.1_Missense_Mutation_p.R385W|FBXL20_ENST00000394294.3_Missense_Mutation_p.R351W|FBXL20_ENST00000583610.1_Missense_Mutation_p.R383W	p.R383W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		14	1407	-			383					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.1147C>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856694	0.71834	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.12361	2.69;2.69	5.9	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.34800	-0.9814	10	0.72032	D	0.01	.	9.363	0.38208	0.0748:0.0:0.4229:0.5023	.	351;383	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	W	383;351	ENSP00000264658:R383W;ENSP00000377832:R351W	ENSP00000264658:R383W	R	-	1	2	FBXL20	34674010	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	3.486000	0.53215	0.362000	0.24319	-0.251000	0.11542	CGG		0.512	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		7	608	0	0	0	1	0	7	608				
BCS1L	617	broad.mit.edu	37	2	219525979	219525979	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:219525979G>A	ENST00000431802.1	+	2	968	c.269G>A	c.(268-270)cGc>cAc	p.R90H	BCS1L_ENST00000439945.1_Missense_Mutation_p.R90H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90H|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90H|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAGTGGCCGCATTTCCACT	0.527																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(268-270)cGc>cAc		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							116.0	121.0	120.0					2																	219525979		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525979G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.269G>A	2.37:g.219525979G>A	ENSP00000413908:p.Arg90His					BCS1L_ENST00000392110.2_Missense_Mutation_p.R90H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90H	p.R90H			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	968	+		Renal(207;0.0474)	90					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.269G>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161282	0.38119	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-2.37;-2.37;-2.37;-3.09;-2.37;-2.37;-2.37;-2.37	5.6	1.81	0.25067	BCS1, N-terminal (1);	0.121283	0.56097	N	0.000032	D	0.91643	0.7359	L	0.31752	0.955	0.49130	D	0.999751	B	0.14012	0.009	B	0.13407	0.009	D	0.85215	0.1023	10	0.42905	T	0.14	-10.8847	10.5413	0.45035	0.2629:0.0:0.7371:0.0	.	90	Q9Y276	BCS1_HUMAN	H	90	ENSP00000398957:R90H;ENSP00000395440:R90H;ENSP00000352219:R90H;ENSP00000375957:R90H;ENSP00000375958:R90H;ENSP00000397293:R90H;ENSP00000375959:R90H;ENSP00000406494:R90H;ENSP00000404999:R90H;ENSP00000413908:R90H	ENSP00000352219:R90H	R	+	2	0	BCS1L	219234223	1.000000	0.71417	0.851000	0.33527	0.981000	0.71138	5.463000	0.66712	0.332000	0.23536	-0.136000	0.14681	CGC		0.527	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		6	727	0	0	0	1	0	6	727				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	232	0	0	0	1	0	4	232				
SLC6A9	6536	broad.mit.edu	37	1	44468264	44468264	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44468264G>A	ENST00000360584.2	-	7	1188	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279C|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260C|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149C|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195C|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195C|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R260C	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	333					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTCACTCCGCGGACAAACAGA	0.602																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(778-780)Cgc>Tgc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						115.0	115.0	115.0					1																	44468264		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44468264G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.997C>T	1.37:g.44468264G>A	ENSP00000353791:p.Arg333Cys					SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260C|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279C|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195C|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R333C|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149C|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195C	p.R260C	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			7	943	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	333					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.778C>T	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562952	0.86335	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.72	4.72	0.59763	.	0.050612	0.85682	D	0.000000	D	0.92051	0.7481	H	0.96547	3.84	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.973;0.998;0.999;0.999;0.999;0.987	D	0.94474	0.7687	10	0.87932	D	0	.	18.2306	0.89934	0.0:0.0:1.0:0.0	.	264;260;195;260;279;333	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	C	195;260;260;149;333;279;195	ENSP00000361381:R195C;ENSP00000361380:R260C;ENSP00000361384:R260C;ENSP00000434460:R149C;ENSP00000353791:R333C;ENSP00000350362:R279C;ENSP00000442523:R195C	ENSP00000350362:R279C	R	-	1	0	SLC6A9	44240851	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	6.069000	0.71209	2.590000	0.87494	0.561000	0.74099	CGC		0.602	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		5	526	0	0	0	1	0	5	526				
KIFC1	3833	broad.mit.edu	37	6	33374225	33374225	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:33374225T>C	ENST00000428849.2	+	8	2239	c.1789T>C	c.(1789-1791)Tcc>Ccc	p.S597P		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	597	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGCAGCCTGTCCACGCTGGG	0.637																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1789-1791)Tcc>Ccc		kinesin family member C1							38.0	42.0	41.0					6																	33374225		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374225T>C	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1789T>C	6.37:g.33374225T>C	ENSP00000393963:p.Ser597Pro						p.S597P	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2239	+			597					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1789T>C	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	t	21.4	4.145930	0.77888	.	.	ENSG00000237649	ENST00000428849	T	0.76839	-1.05	5.22	5.22	0.72569	Kinesin, motor domain (3);	0.057178	0.64402	D	0.000001	D	0.90133	0.6917	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92850	0.6296	10	0.87932	D	0	-1.8945	13.1064	0.59249	0.0:0.0:0.0:1.0	.	589;597	B4E063;Q9BW19	.;KIFC1_HUMAN	P	597	ENSP00000393963:S597P	ENSP00000393963:S597P	S	+	1	0	KIFC1	33482203	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.048000	0.49862	2.189000	0.69895	0.456000	0.33151	TCC		0.637	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		43	306	0	0	0	1	0	43	306				
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:745371delA	ENST00000435300.1	-	0	804				RP11-206L10.8_ENST00000447500.1_RNA																							TTTATTTCATAAGATAGCATT	0.299																																						ENST00000447500.1																			0																																																			0							g.chr1:745371delA																													1.37:g.745371delA														0	95	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			8	43						8	43	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_2030delGGT	c.(2026-2031)ccggtg>ccg	p.V680del		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	680					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGCCTTCAGGTGGTGGTGGTG	0.562																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e12-1		importin 13																																				SO:0001630	splice_region_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425920_44425922delGGT	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2029-1GGT>-	1.37:g.44425929_44425931delGGT							p.P676_splice	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			12	2690_2692	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	676					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Splice_Site	DEL	ENST00000372343.3	37	c.2028_splice	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	In_Frame_Del	7	1436						7	1436	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		17	326						17	326	---	---	---	---
BCL10	8915	broad.mit.edu	37	1	85736511	85736511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:85736511delT	ENST00000370580.1	-	2	873	c.136delA	c.(136-138)atafs	p.I46fs		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	46	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.I46fs*4(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CTACTGAGTATTTTTTTTGCA	0.343			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		1	Insertion - Frameshift(1)	p.I46fs*4(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(136-138)tafs		B-cell CLL/lymphoma 10							83.0	90.0	87.0					1																	85736511		2203	4300	6503	SO:0001589	frameshift_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736511delT	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.136delA	1.37:g.85736511delT	ENSP00000359612:p.Ile46fs						p.I46fs	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	873	-			46			CARD.		Q5VUF1	Frame_Shift_Del	DEL	ENST00000370580.1	37	c.136delA	CCDS704.1																																																																																				0.343	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		9	391						9	391	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142720897	142720898	+	lincRNA	INS	-	-	A	rs112730110|rs374883772	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:142720897_142720898insA	ENST00000610091.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													|||unknown(NO_COVERAGE)	2342	0.467652	0.2436	0.7118	5008	,	,		10169	0.4038		0.666	False		,,,				2504	0.4591					ENST00000595144.1																			0																																																			0							g.chr1:142720897_142720898insA																													1.37:g.142720899_142720899dupA														0	204_205	-									RNA	INS	ENST00000610091.1	37																																																																																						0.277	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			9	85						9	85	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276386	186276388	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:186276386_186276388delAGG	ENST00000445192.2	+	7	1580_1582	c.1535_1537delAGG	c.(1534-1539)aaggag>aag	p.E513del	PRG4_ENST00000367486.3_In_Frame_Del_p.E470del|PRG4_ENST00000367483.4_In_Frame_Del_p.E472del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.E420del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	513	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCACCACCAAGGAGCCTTCACC	0.64																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1534-1539)aag>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276386_186276388delAGG	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1535_1537delAGG	1.37:g.186276386_186276388delAGG	ENSP00000399679:p.Glu513del					PRG4_ENST00000367486.3_In_Frame_Del_p.KE469del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.KE471del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE419del	p.KE512del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1580_1582	+			512			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1535_1537delAGG	CCDS1369.1																																																																																				0.640	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	839						7	839	---	---	---	---
SYT2	127833	broad.mit.edu	37	1	202573647	202573649	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr1:202573647_202573649delTTC	ENST00000367267.1	-	3	471_473	c.279_281delGAA	c.(277-282)aagaac>aac	p.K93del	SYT2_ENST00000367268.4_In_Frame_Del_p.K93del|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	93					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.N94S(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	ctccttcttgttcttcttcttct	0.532																																						ENST00000367267.1																			1	Substitution - Missense(1)	p.N94S(1)	large_intestine(1)	NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(277-282)aac>aa		synaptotagmin II	Botulinum Toxin Type B(DB00042)																																			SO:0001651	inframe_deletion	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202573647_202573649delTTC	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.279_281delGAA	1.37:g.202573656_202573658delTTC	ENSP00000356236:p.Lys93del					SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA	p.KN93del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		3	471_473	-			93					Q496K5|Q8NBE5	In_Frame_Del	DEL	ENST00000367267.1	37	c.279_281delGAA	CCDS1427.1																																																																																				0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		7	545						7	545	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	421						7	421	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan 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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	508						7	508	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					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						TGCCCATGGGGATGATGATGATG	0.424																																						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.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	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.chr2:109380485_109380487delGAT	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.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	560						7	560	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257705	114257705	+	Frame_Shift_Del	DEL	C	C	-	rs572529400	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:114257705delC	ENST00000306507.5	+	1	1045	c.872delC	c.(871-873)accfs	p.T291fs		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	291	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GACCTGGCGACCCCCGGCACC	0.677													|||unknown(NO_COVERAGE)	11	0.00219649	0.0008	0.0029	5008	,	,		10990	0.005		0.0	False		,,,				2504	0.0031					ENST00000306507.5																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						c.(871-873)acfs		forkhead box D4-like 1				8,4068		2,4,2032	42.0	52.0	49.0			0.8	0.0	2		49	8,7724		2,4,3860	no	frameshift	FOXD4L1	NM_012184.4		4,8,5892	A1A1,A1R,RR		0.1035,0.1963,0.1355			114257705	16,11792	2119	4074	6193	SO:0001589	frameshift_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257705delC	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.872delC	2.37:g.114257705delC	ENSP00000302756:p.Thr291fs						p.T291fs	NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN			1	1045	+			291			Pro-rich.		B3KWN1|B9EGF3	Frame_Shift_Del	DEL	ENST00000306507.5	37	c.872delC	CCDS2117.1																																																																																				0.677	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		9	883						9	883	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			7	34						7	34	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G	rs146365140		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(31-33)gggfs	p.G11fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	11					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-33)ggggggfs		RNA binding motif protein 45																																				SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977303_178977304insG	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.35dupG	2.37:g.178977308_178977308dupG	ENSP00000286070:p.Gly11fs		OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1950		p.GG10fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	122_123	+			10					Q6NYL0|Q8NFC9	Frame_Shift_Ins	INS	ENST00000286070.5	37	c.30_31insG	CCDS33335.1																																																																																				0.644	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		8	364						8	364	---	---	---	---
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448																																						ENST00000233202.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(589-591)gcfs		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							305.0	318.0	314.0					2																	219252307		2203	4300	6503	SO:0001589	frameshift_variant	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219252307delT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.591delT	2.37:g.219252307delT	ENSP00000233202:p.Ala197fs					SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	p.A197fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	931	+		Renal(207;0.0474)	197					C0H5Y3	Frame_Shift_Del	DEL	ENST00000233202.6	37	c.591delT	CCDS2415.1																																																																																				0.448	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		8	1733						8	1733	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-	rs377162921		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	13					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(16-21)atg>a		alkaline phosphatase, placental																																				SO:0001651	inframe_deletion	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243529_233243531delTGC	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.17_19delTGC	2.37:g.233243538_233243540delTGC	ENSP00000375881:p.Leu13del						p.ML6del	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	286_288	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	6					P05188|P06861|Q53S78|Q96DB7	In_Frame_Del	DEL	ENST00000392027.2	37	c.17_19delTGC	CCDS2490.1																																																																																				0.616	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		13	327						13	327	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)ttfs		ER degradation enhancer, mannosidase alpha-like 1							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs					EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	p.F442fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1454	+			442					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		12	759						12	759	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14555758	14555759	+	RNA	INS	-	-	AGTT	rs201600571|rs67589576|rs138623401	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:14555758_14555759insAGTT	ENST00000273083.3	-	0	1558							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CAGTTTCTCTCAGAGAGTGGCA	0.579														3310	0.660942	0.59	0.67	5008	,	,		18145	0.7738		0.5487	False		,,,				2504	0.7495					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				2034,1772		688,658,557						-1.3	0.0		dbSNP_119	5	3841,3927		1184,1473,1227	no	intron	GRIP2	NM_001080423.2		1872,2131,1784	A1A1,A1R,RR		49.4464,46.5581,49.2397				5875,5699						80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555758_14555759insAGTT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555758_14555759insAGTT										Q9C0E4	GRIP2_HUMAN			0	1558	-								Q8TEH9|Q9H7H3	RNA	INS	ENST00000273083.3	37																																																																																						0.579	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		7	12						7	12	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38750970	38750970	+	Splice_Site	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:38750970delT	ENST00000449082.2	-	24	4279	c.4280delA	c.(4279-4281)aag>ag	p.K1427fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1427					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACCACTTATCTTTTTTTTCTG	0.408																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.e24+1		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						104.0	104.0	104.0					3																	38750970		2203	4300	6503	SO:0001630	splice_region_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38750970delT	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4281+1A>-	3.37:g.38750970delT							p.K1427_splice	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	24	4279	-			1427					A6NDQ1	Splice_Site	DEL	ENST00000449082.2	37	c.4281_splice	CCDS33736.1																																																																																				0.408	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	Frame_Shift_Del	7	432						7	432	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		7	1019						7	1019	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		13	271						13	271	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100039736	100039736	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:100039736delA	ENST00000394144.4	+	18	1946	c.1939delA	c.(1939-1941)aaafs	p.K649fs	TBC1D23_ENST00000344949.5_Frame_Shift_Del_p.K634fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Del_p.K512fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	649					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AATTACATCCAAAAAAAAACA	0.353																																						ENST00000394144.4																			4	Unknown(2)|Insertion - Frameshift(2)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)	large_intestine(2)|skin(2)	breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1939-1941)aafs		TBC1 domain family, member 23							72.0	73.0	73.0					3																	100039736		2203	4300	6503	SO:0001589	frameshift_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039736delA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1939delA	3.37:g.100039736delA	ENSP00000377700:p.Lys649fs					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Del_p.K634fs|TBC1D23_ENST00000475134.1_Frame_Shift_Del_p.K512fs	p.K649fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			18	1946	+			649					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Del	DEL	ENST00000394144.4	37	c.1939delA	CCDS56265.1																																																																																				0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		10	285						10	285	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	322						9	322	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		11	549						11	549	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(70-72)del		HGF activator				1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443798_3443800delCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del					HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	185_187	+			29					Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	ENST00000382774.3	37	c.70_72delCTG	CCDS3369.1																																																																																				0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			7	292						7	292	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						ENST00000313860.7																			2	Deletion - Frameshift(2)	p.E810fs*3(1)|p.E425fs*3(1)	ovary(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1261-1266)cggafs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648508_41648509delGA	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs					LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs	p.RR421fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			12	1317_1318	+			421					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	ENST00000313860.7	37	c.1263_1264delGA	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		11	476						11	476	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2152-2154)aafs		polycystic kidney disease 2 (autosomal dominant)							102.0	109.0	106.0					4																	88986559		2203	4300	6503	SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986559delA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs					PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR	p.K719fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2218	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	719			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37	c.2152delA																																																																																					0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		7	568						7	568	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaa>ga		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	p.EE142del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	900_902	-			142			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		11	355						11	355	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(316-318)atfs		retinal pigment epithelium-derived rhodopsin homolog				67,4199		33,1,2099	139.0	134.0	136.0			5.7	1.0	4		136	92,8162		44,4,4079	no	frameshift	RRH	NM_006583.2		77,5,6178	A1A1,A1R,RR		1.1146,1.5706,1.27			110756541	159,12361	2203	4300	6503	SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756541delT	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.317delT	4.37:g.110756541delT	ENSP00000314992:p.Ile106fs						p.I106fs	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	351	+		Hepatocellular(203;0.217)	106					A1A4V2|Q7RTS4	Frame_Shift_Del	DEL	ENST00000317735.4	37	c.317delT	CCDS3687.1																																																																																				0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		7	262						7	262	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-	rs150581210		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.340	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	288						8	288	---	---	---	---
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)gafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs						p.KR41fs	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2			11	203						11	203	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000544120.1_5'Flank	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	666						7	666	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36867371	36867371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:36867371delC	ENST00000480824.2	+	3	445	c.151delC	c.(151-153)cccfs	p.P53fs	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000510325.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	53					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTCAGAGACCCCCCCCGCA	0.428																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(151-153)ccfs		chromosome 6 open reading frame 89							62.0	69.0	66.0					6																	36867371		2203	4300	6503	SO:0001589	frameshift_variant	221477					integral to membrane		g.chr6:36867371delC	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.151delC	6.37:g.36867371delC	ENSP00000475947:p.Pro53fs					C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000359359.2_5'UTR	p.P53fs			Q6UWU4	CF089_HUMAN			3	445	+			53					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Del	DEL	ENST00000480824.2	37	c.151delC																																																																																					0.428	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		7	371						7	371	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		11	243						11	243	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		10	726						10	726	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1864-1866)del		caspase recruitment domain family, member 11																																				SO:0001651	inframe_deletion	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963941_2963943delGGA	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1864_1866delTCC	7.37:g.2963950_2963952delGGA	ENSP00000380150:p.Ser622del						p.S622del	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2267_2269	-		Ovarian(82;0.0115)	622					A4D1Z7|Q2NKN7|Q548H3	In_Frame_Del	DEL	ENST00000396946.4	37	c.1864_1866delTCC	CCDS5336.2																																																																																				0.616	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	384						12	384	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs368428758|rs10951154|rs544314279	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:27135314_27135316delCGA	ENST00000343060.4	-	1	277_279	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.R73del|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154). {ECO:0000269|PubMed:11091361, ECO:0000269|PubMed:14702039}.		abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.65											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		37	0.00738818	0.0	0.0144	5008	,	,		11776	0.001		0.0209	False		,,,				2504	0.0051					ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(214-219)cac>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135314_27135316delCGA		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.216_218delTCG	7.37:g.27135314_27135316delCGA	ENSP00000343246:p.Arg73del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA	p.HR72del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	277_279	-			72			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.216_218delTCG	CCDS5401.1																																																																																				0.650	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			8	326						8	326	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_ENST00000395155.3_In_Frame_Del_p.D19del|STX1A_ENST00000395154.3_In_Frame_Del_p.D19del|STX1A_ENST00000395156.3_In_Frame_Del_p.D19del|MIR4284_ENST00000578924.1_RNA	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123425_73123427delCAT		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del					STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		11	651						11	651	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	1808						7	1808	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100285170	100285170	+	Frame_Shift_Del	DEL	G	G	-	rs553150910		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:100285170delG	ENST00000275732.5	-	4	1540	c.331delC	c.(331-333)ctgfs	p.L111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGCCAGCCAGGGGGGGGCCA	0.672																																						ENST00000275732.5																			1	Deletion - Frameshift(1)	p.L111fs*234(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(331-333)tgfs		GRB10 interacting GYF protein 1				59,54,4061		2,1,54,2,49,1979	16.0	18.0	18.0			-3.0	0.0	7		17	65,68,7969		2,0,61,1,66,3921	no	codingComplex	GIGYF1	NM_022574.4		4,1,115,3,115,5900	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6416,2.7072,2.0039			100285170	124,122,12030	2180	4264	6444	SO:0001589	frameshift_variant	64599							g.chr7:100285170delG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.331delC	7.37:g.100285170delG	ENSP00000275732:p.Leu111fs					GIGYF1_ENST00000471340.2_5'UTR	p.L111fs	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			4	1540	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		111					Q6Y7W7|Q8WZ38	Frame_Shift_Del	DEL	ENST00000275732.5	37	c.331delC	CCDS34708.1																																																																																				0.672	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	256						7	256	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		7	32						7	32	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123.0	127.0	126.0					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		9	698						9	698	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			0							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		8	53						8	53	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6378798	6378798	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:6378798delT	ENST00000325203.5	-	4	1174	c.700delA	c.(700-702)atafs	p.I234fs	ANGPT2_ENST00000338312.6_Frame_Shift_Del_p.I182fs|ANGPT2_ENST00000523120.1_Frame_Shift_Del_p.I234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Frame_Shift_Del_p.I234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GCAGTCACTATTTTTTTTTCT	0.368																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(700-702)tafs		angiopoietin 2							170.0	161.0	164.0					8																	6378798		2203	4300	6503	SO:0001589	frameshift_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378798delT	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.700delA	8.37:g.6378798delT	ENSP00000314897:p.Ile234fs					ANGPT2_ENST00000338312.6_Frame_Shift_Del_p.I182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Del_p.I234fs|ANGPT2_ENST00000523120.1_Frame_Shift_Del_p.I234fs|MCPH1_ENST00000344683.5_Intron	p.I234fs			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1174	-		Hepatocellular(245;0.0663)	234					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Frame_Shift_Del	DEL	ENST00000325203.5	37	c.700delA	CCDS5958.1																																																																																				0.368	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		7	323						7	323	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12957611	12957613	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:12957611_12957613delGCT	ENST00000276297.4	-	9	2642_2644	c.2233_2235delAGC	c.(2233-2235)agcdel	p.S745del	DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	745	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCGACTGGCTGCTGCTGCTG	0.621																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2233-2235)del		deleted in liver cancer 1																																				SO:0001651	inframe_deletion	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957611_12957613delGCT	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2233_2235delAGC	8.37:g.12957620_12957622delGCT	ENSP00000276297:p.Ser745del					DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del	p.S745del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2642_2644	-			745			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	In_Frame_Del	DEL	ENST00000276297.4	37	c.2233_2235delAGC	CCDS5989.1																																																																																				0.621	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	349						8	349	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8107-8109)ggfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			60	8163	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8107delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	1670						10	1670	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)cctfs	p.P341fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1021-1023)ccfs		sulfatase 1							396.0	343.0	361.0					8																	70514026		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514026delT	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1023delT	8.37:g.70514026delT	ENSP00000260128:p.Pro341fs					SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1740	+	Breast(64;0.0654)		341					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1023delT	CCDS6204.1																																																																																				0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		7	921						7	921	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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	959						7	959	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125080031	125080031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:125080031delA	ENST00000522917.1	+	28	3908	c.3702delA	c.(3700-3702)ggafs	p.G1234fs	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1234fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1234						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATCCCAAGGGAAAAAAAGGCA	0.388																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3700-3702)ggfs		fer-1-like 6 (C. elegans)							92.0	90.0	90.0					8																	125080031		1843	4083	5926	SO:0001589	frameshift_variant	654463					integral to membrane		g.chr8:125080031delA	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3702delA	8.37:g.125080031delA	ENSP00000428280:p.Gly1234fs					FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1234fs	p.G1234fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		28	3908	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1234						Frame_Shift_Del	DEL	ENST00000522917.1	37	c.3702delA	CCDS43767.1																																																																																				0.388	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		9	268						9	268	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142517131	142517131	+	RNA	DEL	G	G	-	rs11355664	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr8:142517131delG	ENST00000430863.1	-	0	161					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GAGTACCGGTGGGGGGGGGTC	0.667														1850	0.369409	0.264	0.3141	5008	,	,		16045	0.3889		0.4781	False		,,,				2504	0.4192					ENST00000430863.1																			0													maestro heat-like repeat family member 5							20.0	17.0	18.0					8																	142517131		1851	4060	5911			389690							g.chr8:142517131delG			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142517131delG								NM_207414.2	NP_997297.2					0	161	-									RNA	DEL	ENST00000430863.1	37																																																																																						0.667	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		9	189						9	189	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs376509101|rs62639301	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2																																				SO:0001651	inframe_deletion	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039777_2039779delCAG	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del					SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del	p.Q238del			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	876_878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	238	Missing (in Ref. 1; CAA51407).		Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	ENST00000382203.1	37	c.667_669delCAG	CCDS34977.1																																																																																				0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		11	149						11	149	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	C	-	rs201862102		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:39149853delC	ENST00000297668.6	-	10	1672	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTCCCCAGCGCCCCCTGCT	0.542																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1597-1599)gcfs		contactin associated protein-like 3				10,3536		0,10,1763	6.0	6.0	6.0			2.0	0.8	9		6	38,7192		2,34,3579	no	frameshift	CNTNAP3	NM_033655.3		2,44,5342	A1A1,A1R,RR		0.5256,0.282,0.4454			39149853	48,10728	1907	3893	5800	SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39149853delC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1599delG	9.37:g.39149853delC	ENSP00000297668:p.Ala533fs					CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs	p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	10	1672	-			533			Laminin G-like 2.		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	c.1599delG	CCDS6616.1																																																																																				0.542	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		10	80						10	80	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			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	253						8	253	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		8	78						8	78	---	---	---	---
LINC00840	100506835	broad.mit.edu	37	10	44362841	44362842	+	lincRNA	INS	-	-	GGGCAG	rs112988111|rs71533079|rs386743223|rs55698449	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:44362841_44362842insGGGCAG	ENST00000431737.1	+	0	1182					NR_038268.1				long intergenic non-protein coding RNA 840																		ggcgggggcaagggcaggggca	0.569														1666	0.332668	0.1868	0.4741	5008	,	,		11208	0.4137		0.3887	False		,,,				2504	0.2883					ENST00000431737.1																			0																																																			0							g.chr10:44362841_44362842insGGGCAG			10q11.21	2013-01-03			ENSG00000226808	ENSG00000226808		"""Long non-coding RNAs"""	44987	non-coding RNA	RNA, long non-coding							Standard	NR_038268		Approved		uc021ppj.1		OTTHUMG00000018049		10.37:g.44362842_44362847dupGGGCAG								NR_038268.1						0	1182	+									RNA	INS	ENST00000431737.1	37																																																																																						0.569	LINC00840-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047732.1	NR_038268		5	8						5	8	---	---	---	---
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-	rs545805667	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458														3	0.000599042	0.0008	0.0	5008	,	,		16930	0.001		0.0	False		,,,				2504	0.001					ENST00000369849.4																			1	Deletion - In frame(1)	p.E449_E450delEE(1)	breast(1)	breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(1345-1347)del		internexin neuronal intermediate filament protein, alpha																																				SO:0001651	inframe_deletion	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105048271_105048273delGAG	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1345_1347delGAG	10.37:g.105048280_105048282delGAG	ENSP00000358865:p.Glu454del						p.E454del	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	3	1394_1396	+			454			Poly-Glu.|Tail.		B1AQK0|Q9BRC5	In_Frame_Del	DEL	ENST00000369849.4	37	c.1345_1347delGAG	CCDS7545.1																																																																																				0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		11	504						11	504	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	843						9	843	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_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		7	1147						7	1147	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62292121	62292121	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:62292121delT	ENST00000378024.4	-	5	10042	c.9768delA	c.(9766-9768)aaafs	p.K3256fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3256					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTTGGGCCTTTTATGTCAA	0.403																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9766-9768)aafs		AHNAK nucleoprotein							113.0	106.0	108.0					11																	62292121		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292121delT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9768delA	11.37:g.62292121delT	ENSP00000367263:p.Lys3256fs					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3256fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10042	-		Melanoma(852;0.155)	3256					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.9768delA	CCDS31584.1																																																																																				0.403	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	491						7	491	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		15	22						15	22	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3379-3381)cccfs		B-cell CLL/lymphoma 9-like				27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118770651_118770652insG	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs					BCL9L_ENST00000526143.1_5'UTR	p.P1127fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	7	4344_4345	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1127			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	c.3380_3381insC	CCDS8403.1																																																																																				0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	235						7	235	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		11	369						11	369	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr12:123794283delT	ENST00000602398.1	-	26	3543	c.3416delA	c.(3415-3417)aatfs	p.N1139fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000420886.2_Frame_Shift_Del_p.N1139fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139					regulation of transcription, DNA-templated (GO:0006355)			p.N1138fs*9(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	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388																																						ENST00000420886.2																			1	Deletion - Frameshift(1)	p.N1138fs*9(1)	large_intestine(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.(3415-3417)atfs		strawberry notch homolog 1 (Drosophila)							134.0	131.0	132.0					12																	123794283		2203	4300	6503	SO:0001589	frameshift_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794283delT	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.3416delA	12.37:g.123794283delT	ENSP00000473665:p.Asn1139fs					SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs	p.N1139fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3415	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1139					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	ENST00000602398.1	37	c.3416delA	CCDS53844.1																																																																																				0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		10	537						10	537	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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_ENST00000357537.3_De_novo_Start_InFrame|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del	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|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del	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		10	872						10	872	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs					G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		7	132						7	132	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	202						7	202	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr14:105818795_105818797delCTC	ENST00000325438.8	+	3	792_794	c.288_290delCTC	c.(286-291)ttctcc>ttc	p.S97del	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.S30del|PACS2_ENST00000447393.1_In_Frame_Del_p.S97del|PACS2_ENST00000458164.2_In_Frame_Del_p.S97del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	97					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(286-291)ttc>tt		phosphofurin acidic cluster sorting protein 2																																				SO:0001651	inframe_deletion	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818795_105818797delCTC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.288_290delCTC	14.37:g.105818795_105818797delCTC	ENSP00000321834:p.Ser97del		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000458164.2_In_Frame_Del_p.FS96del|PACS2_ENST00000430725.2_In_Frame_Del_p.FS29del|PACS2_ENST00000325438.8_In_Frame_Del_p.FS96del	p.FS96del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	463_465	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	96					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	In_Frame_Del	DEL	ENST00000325438.8	37	c.288_290delCTC	CCDS32168.1																																																																																				0.616	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		87	375						87	375	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)aagfs	p.K1357fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1357					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4069-4071)gggfs		ADAM metallopeptidase with thrombospondin type 1 motif, 7				119,2525		11,97,1214						-5.9	0.0			8	119,5765		2,115,2825	no	frameshift	ADAMTS7	NM_014272.3		13,212,4039	A1A1,A1R,RR		2.0224,4.5008,2.7908				238,8290				SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058183_79058184insTGGGTCC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4063_4069dupGGACCCA	15.37:g.79058184_79058190dupTGGGTCC	ENSP00000373472:p.Lys1357fs						p.-1357fs	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	4279_4280	-								Q14F51|Q6P7J9	Frame_Shift_Ins	INS	ENST00000388820.4	37	c.4069_4070insGGACCCA	CCDS32303.1																																																																																				0.653	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		15	118						15	118	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85400266	85400267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr15:85400266_85400267insA	ENST00000258888.5	+	6	3070_3071	c.2903_2904insA	c.(2902-2907)ccaaaafs	p.PK968fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	968					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTGTTTCCCAAAAAAACCTG	0.54																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2902-2904)caafs		alpha-kinase 3																																				SO:0001589	frameshift_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400266_85400267insA	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2910dupA	15.37:g.85400273_85400273dupA	ENSP00000258888:p.Pro968fs						p.Q968fs	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3070_3071	+			968					Q9P2L6	Frame_Shift_Ins	INS	ENST00000258888.5	37	c.2903_2904insA	CCDS10333.1																																																																																				0.540	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		8	763						8	763	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		9	947						9	947	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18937310	18937312	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:18937310_18937312delGCC	ENST00000446231.2	-	1	464_466	c.52_54delGGC	c.(52-54)ggcdel	p.G18del	SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_In_Frame_Del_p.G18del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	18	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATACTTGGTgccgccgccgccg	0.749																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(52-54)del		SMG1 phosphatidylinositol 3-kinase-related kinase				68,1646		5,58,794						4.3	1.0			5	233,4695		15,203,2246	no	coding	SMG1	NM_015092.4		20,261,3040	A1A1,A1R,RR		4.7281,3.9673,4.5318				301,6341				SO:0001651	inframe_deletion	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937310_18937312delGCC	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.52_54delGGC	16.37:g.18937319_18937321delGCC	ENSP00000402515:p.Gly18del					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_In_Frame_Del_p.G18del	p.G18del			Q96Q15	SMG1_HUMAN			1	464_466	-			18			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	In_Frame_Del	DEL	ENST00000446231.2	37	c.52_54delGGC	CCDS45430.1																																																																																				0.749	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	70						7	70	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28931200	28931202	+	In_Frame_Del	DEL	CTG	CTG	-	rs373504496		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:28931200_28931202delCTG	ENST00000358201.4	-	3	925_927	c.337_339delCAG	c.(337-339)cagdel	p.Q113del	RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	113	Poly-Gln.				endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCACAGTCCTGCTGCTGCTGC	0.64																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(337-339)del		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001651	inframe_deletion	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28931200_28931202delCTG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.337_339delCAG	16.37:g.28931209_28931211delCTG	ENSP00000350934:p.Gln113del					RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del	p.Q113del	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			3	925_927	-			113			Poly-Gln.			In_Frame_Del	DEL	ENST00000358201.4	37	c.337_339delCAG	CCDS42140.1																																																																																				0.640	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		7	373						7	373	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-	rs368747234		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	332						8	332	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-	rs531337171|rs569719496	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	337						10	337	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	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_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	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	760						8	760	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763279	67763281	+	In_Frame_Del	DEL	GAG	GAG	-	rs141826437	byFrequency	TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr16:67763279_67763281delGAG	ENST00000317506.3	-	10	1369_1371	c.1254_1256delCTC	c.(1252-1257)tcctcg>tcg	p.418_419SS>S	RANBP10_ENST00000536251.1_In_Frame_Del_p.189_190SS>S|RANBP10_ENST00000411657.2_In_Frame_Del_p.301_302SS>S|RANBP10_ENST00000448631.2_In_Frame_Del_p.362_363SS>S|RANBP10_ENST00000602677.1_In_Frame_Del_p.418_419SS>S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	418	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S418S(2)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaagaggacgaggaggaggagg	0.567																																						ENST00000317506.3																			2	Substitution - coding silent(2)	p.S418S(2)	endometrium(2)	endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1252-1257)tcg>tc		RAN binding protein 10																																				SO:0001651	inframe_deletion	57610							g.chr16:67763279_67763281delGAG	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1254_1256delCTC	16.37:g.67763288_67763290delGAG	ENSP00000316589:p.Ser422del					RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del	p.SS420del	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1369_1371	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	420			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	In_Frame_Del	DEL	ENST00000317506.3	37	c.1254_1256delCTC	CCDS32469.1																																																																																				0.567	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		7	220						7	220	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579585	7579585	+	Frame_Shift_Del	DEL	G	G	-	rs11575998		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:7579585delG	ENST00000269305.4	-	4	291	c.102delC	c.(100-102)cccfs	p.P34fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs	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	34	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; 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.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(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)	GGGACGGCAAGGGGGACTGTA	0.597		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"""		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)|Insertion - Frameshift(1)	p.0?(8)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.P34fs*8(1)|p.P36fs*7(1)|p.P13fs*18(1)|p.S33fs*6(1)	upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(100-102)ccfs	Other conserved DNA damage response genes	tumor protein p53							148.0	144.0	145.0					17																	7579585		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579585delG	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.102delC	17.37:g.7579585delG	ENSP00000269305:p.Pro34fs	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_ENST00000445888.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P34fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P34fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P34fs	p.P34fs	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)	4	234	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	34		P -> L (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.|Transcription activation (acidic).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.102delC	CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		144	826						144	826	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	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		11	1305						11	1305	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(85-90)ccg>c		nuclear fragile X mental retardation protein interacting protein 2																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	144_146	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		7	461						7	461	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:45219355delC	ENST00000066544.3	-	12	1508	c.1415delG	c.(1414-1416)ggtfs	p.G472fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1414-1416)gtfs		cell division cycle 27							83.0	89.0	87.0					17																	45219355		2201	4298	6499	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219355delC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1415delG	17.37:g.45219355delC	ENSP00000066544:p.Gly472fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs	p.G472fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1508	-			472					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1415delG	CCDS11509.1																																																																																				0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	617						9	617	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)aagfs	p.K115fs	RP11-481C4.1_ENST00000509833.1_RNA|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(343-345)agfs		sperm associated antigen 9							133.0	131.0	132.0					17																	49157025		2203	4299	6502	SO:0001589	frameshift_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49157025delT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.344delA	17.37:g.49157025delT	ENSP00000262013:p.Lys115fs					SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	p.K115fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		2	552	-			115					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Del	DEL	ENST00000262013.7	37	c.344delA	CCDS45740.1																																																																																				0.313	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		9	479						9	479	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			10	98						10	98	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	870						7	870	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			7	769						7	769	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112519	112520	+	RNA	INS	-	-	A	rs199734221		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:112519_112520insA	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CCAGCTCCCCCGGGGCCTCCGT	0.53																																						ENST00000576266.1																			0																																																			0							g.chr18:112519_112520insA			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112519_112520insA														0	153_154	+									RNA	INS	ENST00000608049.1	37																																																																																						0.530	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			11	116						11	116	---	---	---	---
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A	rs200956310		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1063-1065)aaafs	p.K355fs	RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K355fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	355					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination																														ENST00000399722.2																			6	Substitution - Missense(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)	ovary(2)|central_nervous_system(2)|endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1060-1065)ggaaaafs	Homologous recombination	retinoblastoma binding protein 8																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572852_20572853insA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1071dupA	18.37:g.20572861_20572861dupA	ENSP00000382628:p.Lys355fs					RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs	p.GK354fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1413_1414	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		354					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.1062_1063insA	CCDS11875.1																																																																																				0.361	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		8	374						8	374	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755180	6755180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:6755180delG	ENST00000245908.6	-	5	912	c.643delC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Del_p.R93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GAGGGTGTCCGGGGGGGCTTC	0.657																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)ggfs		SH2 domain containing 3A							97.0	110.0	106.0					19																	6755180		2203	4300	6503	SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755180delG	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.643delC	19.37:g.6755180delG	ENSP00000245908:p.Arg215fs					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Del_p.R93fs	p.R215fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	912	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Del	DEL	ENST00000245908.6	37	c.643delC	CCDS12173.1																																																																																				0.657	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	1339						7	1339	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20359846	20359847	+	RNA	DEL	GT	GT	-	rs142545494|rs549678051		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:20359846_20359847delGT	ENST00000593655.1	-	0	199																											TTAAGTAAAGGTGTGTGTGTGT	0.421																																						ENST00000593655.1																			0																																																			0							g.chr19:20359846_20359847delGT																													19.37:g.20359856_20359857delGT														0	199	-									RNA	DEL	ENST00000593655.1	37																																																																																						0.421	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			10	284						10	284	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		8	281						8	281	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	795						7	795	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			17	582						17	582	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089013	57089014	+	In_Frame_Ins	INS	-	-	TAA			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57089013_57089014insTAA	ENST00000330619.8	+	6	1902_1903	c.1216_1217insTAA	c.(1216-1218)ttc>tTAAtc	p.406_406F>LI	ZNF470_ENST00000391709.3_In_Frame_Ins_p.406_406F>LI|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGGGAAGGCTTTCACTGATCAC	0.426																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1216-1218)cac>TAAcac		zinc finger protein 470																																				SO:0001652	inframe_insertion	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089013_57089014insTAA	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		Exception_encountered	19.37:g.57089013_57089014insTAA	ENSP00000333223:p.Phe406delinsLeuIle					ZNF470_ENST00000391709.3_In_Frame_Ins_p.405_406ins*|ZNF470_ENST00000601902.1_Intron	p.405_406ins*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1902_1903	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	405					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	In_Frame_Ins	INS	ENST00000330619.8	37	c.1216_1217insTAA	CCDS33122.1																																																																																				0.426	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		30	390						30	390	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328919	57328919	+	Frame_Shift_Del	DEL	T	T	-	rs143368073		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr19:57328919delT	ENST00000326441.9	-	10	1254	c.891delA	c.(889-891)aaafs	p.K297fs	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.K171fs|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.K173fs|PEG3_ENST00000423103.2_Frame_Shift_Del_p.K297fs|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	297					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTGGGTTGATTTTTTGGCTT	0.468																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(889-891)aafs		paternally expressed 3							46.0	54.0	51.0					19																	57328919		2203	4295	6498	SO:0001589	frameshift_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328919delT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.891delA	19.37:g.57328919delT	ENSP00000326581:p.Lys297fs					ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.K173fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.K171fs|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.K297fs	p.K297fs	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1254	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	297					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Frame_Shift_Del	DEL	ENST00000326441.9	37	c.891delA	CCDS12948.1																																																																																				0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			7	507						7	507	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			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.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		17	514						17	514	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		12	212						12	212	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del	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_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	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		8	661						8	661	---	---	---	---
MIR99AHG	388815	broad.mit.edu	37	21	17443416	17443417	+	lincRNA	DEL	TG	TG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431																																						ENST00000458468.1																			0																																																			0							g.chr21:17443416_17443417delTG																													21.37:g.17443426_17443427delTG								NR_027790.1						0	27	+									RNA	DEL	ENST00000458468.1	37																																																																																						0.431	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			8	573						8	573	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			9	471						9	471	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		7	258						7	258	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			15	39						15	39	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-A5VM-01A-11D-A32N-08	TCGA-FB-A5VM-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64face78-864d-4f47-9be1-d9c2d6ad6fe1	533e52da-782c-4274-afbe-e017bb6b0286	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	299						8	299	---	---	---	---
