#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
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A						SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	4	144	0	0	0	1	0	4	144				
PHGDH	26227	broad.mit.edu	37	1	120277981	120277981	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:120277981G>A	ENST00000369409.4	+	7	843	c.707G>A	c.(706-708)cGt>cAt	p.R236H	PHGDH_ENST00000369407.3_Missense_Mutation_p.R202H	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	236					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		AACTGTGCCCGTGGAGGGATC	0.617																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(604-606)cGt>cAt		phosphoglycerate dehydrogenase	NADH(DB00157)						94.0	97.0	96.0					1																	120277981		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277981G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.707G>A	1.37:g.120277981G>A	ENSP00000358417:p.Arg236His					PHGDH_ENST00000369409.4_Missense_Mutation_p.R236H	p.R202H			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	6	2112	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	236					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.605G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.845982	0.91277	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	D;D	0.92397	-3.03;-3.03	5.23	4.31	0.51392	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97855	1.0277	10	0.87932	D	0	-18.4982	12.4416	0.55627	0.0823:0.0:0.9177:0.0	.	108;202;202;109;236	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	H	236;109;68;202	ENSP00000358417:R236H;ENSP00000358415:R202H	ENSP00000358415:R202H	R	+	2	0	PHGDH	120079504	1.000000	0.71417	0.120000	0.21714	0.831000	0.47069	7.473000	0.81007	1.211000	0.43351	0.655000	0.94253	CGT		0.617	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		6	376	0	0	0	1	0	6	376				
C16orf71	146562	broad.mit.edu	37	16	4787820	4787820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4787820A>C	ENST00000299320.5	+	3	627	c.149A>C	c.(148-150)gAg>gCg	p.E50A	C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	50										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGGGAAGAGGAGCTGTTCATC	0.597																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(148-150)gAg>gCg		chromosome 16 open reading frame 71							83.0	81.0	82.0					16																	4787820		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4787820A>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.149A>C	16.37:g.4787820A>C	ENSP00000299320:p.Glu50Ala					RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A	p.E50A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			3	627	+			50					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.149A>C	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844596	0.71488	.	.	ENSG00000166246	ENST00000299320	T	0.13196	2.61	4.51	4.51	0.55191	.	0.000000	0.42420	D	0.000720	T	0.31918	0.0812	L	0.58101	1.795	0.31336	N	0.684262	D	0.89917	1.0	D	0.87578	0.998	T	0.25398	-1.0133	10	0.87932	D	0	-23.9907	12.0245	0.53362	1.0:0.0:0.0:0.0	.	50	Q8IYS4	CP071_HUMAN	A	50	ENSP00000299320:E50A	ENSP00000299320:E50A	E	+	2	0	C16orf71	4727821	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.900000	0.63252	2.050000	0.60909	0.529000	0.55759	GAG		0.597	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		22	90	0	0	0	1	0	22	90				
ADAM19	8728	broad.mit.edu	37	5	156932774	156932774	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156932774G>A	ENST00000517905.1	-	11	1077	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ADAM19_ENST00000394020.1_Missense_Mutation_p.H347Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.H78Y|ADAM19_ENST00000257527.4_Missense_Mutation_p.H345Y			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	345	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCATCTCGTGGGCCATGGTG	0.602																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1033-1035)Cac>Tac		ADAM metallopeptidase domain 19							55.0	44.0	48.0					5																	156932774		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156932774G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1033C>T	5.37:g.156932774G>A	ENSP00000428654:p.His345Tyr					ADAM19_ENST00000517905.1_Missense_Mutation_p.H345Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.H78Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.H347Y	p.H345Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1111	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	345			Peptidase M12B.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.1033C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.404158	0.96051	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.99532	1.08;-6.1;-6.1;-6.1	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.99859	0.9934	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96605	0.9448	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	345;78	Q9H013-2;E9PD32	.;.	Y	78;345;347;345	ENSP00000414088:H78Y;ENSP00000257527:H345Y;ENSP00000377588:H347Y;ENSP00000428654:H345Y	ENSP00000257527:H345Y	H	-	1	0	ADAM19	156865352	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CAC		0.602	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		10	60	0	0	0	1	0	10	60				
ARNT2	9915	broad.mit.edu	37	15	80845046	80845046	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:80845046G>A	ENST00000303329.4	+	10	1185	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.R329R|ARNT2_ENST00000527771.1_Silent_p.R329R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(985-987)cgG>cgA		aryl-hydrocarbon receptor nuclear translocator 2							169.0	142.0	151.0					15																	80845046		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845046G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1020G>A	15.37:g.80845046G>A						ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R	p.R329R			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1326	+			340			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.987G>A	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	632	0	0	0	1	0	5	632				
DMD	1756	broad.mit.edu	37	X	31241191	31241191	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:31241191G>T	ENST00000357033.4	-	64	9540	c.9334C>A	c.(9334-9336)Ctc>Atc	p.L3112I	DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000343523.2_Missense_Mutation_p.L652I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000474231.1_Missense_Mutation_p.L652I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3112	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCTTCGGAGTTTCATGGCA	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9334-9336)Ctc>Atc		dystrophin							96.0	91.0	92.0					X																	31241191		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31241191G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9334C>A	X.37:g.31241191G>T	ENSP00000354923:p.Leu3112Ile					DMD_ENST00000343523.2_Missense_Mutation_p.L652I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000474231.1_Missense_Mutation_p.L652I	p.L3112I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			64	9540	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3112			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9334C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.036996|3.036996	0.54896|0.54896	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13|.	5.23|5.23	5.23|5.23	0.72850|0.72850	EF-hand domain, type 1 (1);|.	0.629831|.	0.11896|.	U|.	0.519141|.	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999997|0.999997	P;P;D;D;D;D;B;B;B;P;P;B;P;B;B;D|.	0.65815|.	0.786;0.778;0.995;0.986;0.995;0.995;0.022;0.009;0.179;0.902;0.88;0.194;0.897;0.018;0.102;0.965|.	D;P;D;D;D;D;B;B;B;P;P;B;D;B;P;D|.	0.87578|.	0.974;0.887;0.998;0.992;0.998;0.998;0.148;0.083;0.279;0.849;0.688;0.291;0.97;0.128;0.472;0.988|.	T|T	0.56329|0.56329	-0.7997|-0.7997	10|5	0.33940|.	T|.	0.23|.	.|.	16.6745|16.6745	0.85275|0.85275	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;3104;3112;3108;1771;1768;652;652;652;652;652;2989;44;44;44;44|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	I|N	3104;1771;1768;44;808;3108;3112;652;652;3112;2989;652;652;44;652;44;44|840	ENSP00000367997:L44I;ENSP00000350765:L808I;ENSP00000367948:L3108I;ENSP00000354923:L3112I;ENSP00000352894:L652I;ENSP00000340057:L652I;ENSP00000367979:L652I;ENSP00000444119:L652I;ENSP00000367974:L44I;ENSP00000417123:L652I;ENSP00000354464:L44I;ENSP00000367951:L44I|.	ENSP00000340057:L652I|.	L|T	-|-	1|2	0|0	DMD|DMD	31151112|31151112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.284000|5.284000	0.65627|0.65627	2.196000|2.196000	0.70406|0.70406	0.540000|0.540000	0.68198|0.68198	CTC|ACT		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		68	87	1	0	1.3913e-53	1	1.6195e-53	68	87				
TRIM68	55128	broad.mit.edu	37	11	4626621	4626621	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:4626621G>T	ENST00000300747.5	-	2	403	c.114C>A	c.(112-114)agC>agA	p.S38R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	38					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGAGAGACAGCTGTGGCAGA	0.577																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(112-114)agC>agA		tripartite motif containing 68							76.0	74.0	75.0					11																	4626621		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626621G>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.114C>A	11.37:g.4626621G>T	ENSP00000300747:p.Ser38Arg						p.S38R	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	403	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	38					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.114C>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398899	0.25291	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.08370	3.1;3.1	4.56	3.55	0.40652	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.556195	0.16428	N	0.214840	T	0.07324	0.0185	N	0.20357	0.565	0.33336	D	0.569272	B;P	0.37548	0.321;0.599	B;B	0.40982	0.137;0.345	T	0.22417	-1.0217	10	0.34782	T	0.22	.	12.165	0.54125	0.0:0.1748:0.8252:0.0	.	38;38	E9PR29;Q6AZZ1	.;TRI68_HUMAN	R	38	ENSP00000300747:S38R;ENSP00000436112:S38R	ENSP00000300747:S38R	S	-	3	2	TRIM68	4583197	0.147000	0.22687	0.988000	0.46212	0.491000	0.33493	0.392000	0.20801	2.458000	0.83093	0.549000	0.68633	AGC		0.577	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		4	226	1	0	0.150653	1	0.152036	4	226				
TTC17	55761	broad.mit.edu	37	11	43425546	43425546	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:43425546A>T	ENST00000039989.4	+	11	1346		c.e11-1		TTC17_ENST00000299240.6_Splice_Site|TTC17_ENST00000526774.1_Splice_Site	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17						actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCATTTTCTAGTTTGGTGAG	0.333																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e11-1		tetratricopeptide repeat domain 17							84.0	80.0	81.0					11																	43425546		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43425546A>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1333-1A>T	11.37:g.43425546A>T						TTC17_ENST00000526774.1_Splice_Site|TTC17_ENST00000299240.6_Splice_Site		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			11	1346	+								G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37		CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757289	0.69648	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC17	43382122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.321000	0.72881	2.202000	0.70862	0.477000	0.44152	.		0.333	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Intron	4	87	0	0	0	1	0	4	87				
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1						aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.e8-1		mitochondrial fission regulator 1							119.0	130.0	126.0					8																	66621209		2203	4300	6503	SO:0001630	splice_region_variant	9650					mitochondrion|plasma membrane		g.chr8:66621209A>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.934-1A>T	8.37:g.66621209A>T						MTFR1_ENST00000458689.2_Splice_Site		NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		8	1059	+								E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Splice_Site	SNP	ENST00000262146.4	37		CCDS6182.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638666	0.47153	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000518800	.	.	.	4.11	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.912	0.41411	0.9131:0.0:0.0869:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTFR1	66783763	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.010000	0.88615	1.866000	0.54105	0.533000	0.62120	.		0.403	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	Intron	4	87	0	0	0	1	0	4	87				
RMI1	80010	broad.mit.edu	37	9	86615864	86615864	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:86615864A>T	ENST00000325875.3	+	3	296		c.e3-1			NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1						DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTTGTTTTCAGGTAATAGAT	0.294																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.e3-1		RecQ mediated genome instability 1							33.0	37.0	36.0					9																	86615864		2126	4269	6395	SO:0001630	splice_region_variant	80010				DNA replication	nucleus		g.chr9:86615864A>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.-36-1A>T	9.37:g.86615864A>T								NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	296	+								Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Splice_Site	SNP	ENST00000325875.3	37		CCDS6669.1																																																																																				0.294	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	Intron	3	35	0	0	0	1	0	3	35				
TAS2R31	259290	broad.mit.edu	37	12	11183341	11183341	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:11183341T>A	ENST00000390675.2	-	1	665	c.594A>T	c.(592-594)ttA>ttT	p.L198F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	198					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GAGAACAGATTAACAGCAAAA	0.438																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(592-594)ttA>ttT		taste receptor, type 2, member 31							132.0	136.0	135.0					12																	11183341		2203	4299	6502	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183341T>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.594A>T	12.37:g.11183341T>A	ENSP00000375093:p.Leu198Phe					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.L198F	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	665	-			198					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.594A>T	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.149804	0.37923	.	.	ENSG00000256436	ENST00000390675	T	0.03272	3.99	2.62	-0.166	0.13351	.	.	.	.	.	T	0.18759	0.0450	M	0.93808	3.46	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07966	-1.0745	9	0.87932	D	0	.	2.963	0.05899	0.0:0.1581:0.2571:0.5848	.	198	P59538	T2R31_HUMAN	F	198	ENSP00000375093:L198F	ENSP00000375093:L198F	L	-	3	2	TAS2R31	11074608	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.809000	0.04510	-0.133000	0.11537	0.163000	0.16589	TTA		0.438	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		8	557	0	0	0	1	0	8	557				
ATM	472	broad.mit.edu	37	11	108124598	108124598	+	Silent	SNP	T	T	C	rs587782544		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:108124598T>C	ENST00000452508.2	+	14	2145	c.1956T>C	c.(1954-1956)ttT>ttC	p.F652F	ATM_ENST00000278616.4_Silent_p.F652F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	652					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGAACTATTTCTTCAGACAA	0.348			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1954-1956)ttT>ttC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							88.0	88.0	88.0					11																	108124598		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108124598T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1956T>C	11.37:g.108124598T>C		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.F652F	p.F652F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	13	2341	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	652					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.1956T>C	CCDS31669.1																																																																																				0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	115	0	0	0	1	0	4	115				
AADACL3	126767	broad.mit.edu	37	1	12785730	12785730	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12785730G>C	ENST00000359318.5	+	4	1025	c.820G>C	c.(820-822)Gac>Cac	p.D274H	AADACL3_ENST00000332530.3_Missense_Mutation_p.D204H	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	274							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGAAGATGACATAGTGTC	0.507																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(610-612)Gac>Cac		arylacetamide deacetylase-like 3							105.0	105.0	105.0					1																	12785730		2072	4215	6287	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785730G>C		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.820G>C	1.37:g.12785730G>C	ENSP00000352268:p.Asp274His					AADACL3_ENST00000359318.5_Missense_Mutation_p.D274H	p.D204H	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	836	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	274					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.610G>C	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484217	0.44147	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.14144	2.53;2.53	5.56	1.48	0.22813	Alpha/beta hydrolase fold-3 (1);	0.899096	0.09639	N	0.775167	T	0.20333	0.0489	L	0.39898	1.24	0.09310	N	1	D;P	0.53619	0.961;0.942	D;P	0.64687	0.928;0.831	T	0.17561	-1.0365	10	0.34782	T	0.22	-2.7368	1.9439	0.03352	0.2942:0.1242:0.4542:0.1274	.	274;204	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	H	204;274	ENSP00000333352:D204H;ENSP00000352268:D274H	ENSP00000333352:D204H	D	+	1	0	AADACL3	12708317	0.008000	0.16893	0.000000	0.03702	0.080000	0.17528	1.614000	0.36911	0.018000	0.15052	-0.494000	0.04653	GAC		0.507	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		89	309	0	0	0	1	0	89	309				
WDTC1	23038	broad.mit.edu	37	1	27621085	27621085	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:27621085G>C	ENST00000319394.3	+	9	1373	c.838G>C	c.(838-840)Ggc>Cgc	p.G280R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	280					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGCCCCAATGGCACAGAGCT	0.552																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(838-840)Ggc>Cgc		WD and tetratricopeptide repeats 1							97.0	82.0	87.0					1																	27621085		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27621085G>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.838G>C	1.37:g.27621085G>C	ENSP00000317971:p.Gly280Arg					WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	9	1373	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	280					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.838G>C		.	.	.	.	.	.	.	.	.	.	G	28.8	4.948366	0.92593	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.85013	-1.93;-1.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93290	0.6667	10	0.66056	D	0.02	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	280;280	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	R	280	ENSP00000317971:G280R;ENSP00000355317:G280R	ENSP00000317971:G280R	G	+	1	0	WDTC1	27493672	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.476000	0.97823	2.769000	0.95229	0.563000	0.77884	GGC		0.552	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		32	59	0	0	0	1	0	32	59				
CAST	831	broad.mit.edu	37	5	96101025	96101025	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:96101025T>A	ENST00000341926.3	+	24	1946	c.1784T>A	c.(1783-1785)gTa>gAa	p.V595E	CAST_ENST00000515663.1_Missense_Mutation_p.V318E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000395813.1_Missense_Mutation_p.V678E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E			P20810	ICAL_HUMAN	calpastatin	595					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GAAGATAAAGTAAAGGTaaaa	0.348																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2032-2034)gTa>gAa		calpastatin							52.0	52.0	52.0					5																	96101025		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96101025T>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1784T>A	5.37:g.96101025T>A	ENSP00000339914:p.Val595Glu					CAST_ENST00000395812.2_Missense_Mutation_p.V637E|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.V573E|CAST_ENST00000515663.1_Missense_Mutation_p.V318E|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000509903.1_Missense_Mutation_p.V560E|CAST_ENST00000508830.1_Missense_Mutation_p.V678E|CAST_ENST00000341926.3_Missense_Mutation_p.V595E|CAST_ENST00000508608.1_Missense_Mutation_p.V641E|CAST_ENST00000325674.7_Missense_Mutation_p.V643E|CAST_ENST00000511049.1_Missense_Mutation_p.V580E|CAST_ENST00000338252.3_Missense_Mutation_p.V582E|CAST_ENST00000508579.1_Missense_Mutation_p.V310E|CAST_ENST00000510756.1_Missense_Mutation_p.V656E|CAST_ENST00000511782.1_Missense_Mutation_p.V581E|CAST_ENST00000504465.1_Missense_Mutation_p.V523E|CAST_ENST00000359176.4_Missense_Mutation_p.V659E	p.V678E			P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	26	2219	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	595					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2033T>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	22.0|22.0|22.0	4.234820|4.234820|4.234820	0.79800|0.79800|0.79800	.|.|.	.|.|.	ENSG00000153113|ENSG00000153113|ENSG00000153113	ENST00000510500|ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663|ENST00000437034	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.23950|.	.|1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88|.	5.8|5.8|5.8	5.8|5.8|5.8	0.92144|0.92144|0.92144	.|.|.	.|0.316482|.	.|0.31472|.	.|N|.	.|0.007594|.	T|T|.	0.80686|0.80686|.	0.4670|0.4670|.	M|M|M	0.89414|0.89414|0.89414	3.03|3.03|3.03	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.998;1.0;0.999|.	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.91635|.	.|0.999;0.996;0.967;0.984;0.967;0.992;0.989;0.999;0.998;0.989;0.998;0.989;0.999;0.994;0.981;0.999|.	D|D|.	0.84109|0.84109|.	0.0400|0.0400|.	5|10|.	.|0.40728|.	.|T|.	.|0.16|.	-10.4551|-10.4551|-10.4551	15.1375|15.1375|15.1375	0.72579|0.72579|0.72579	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|523;641;318;346;317;580;560;573;554;595;643;637;659;656;678;582|.	.|E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.|.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	R|E|K	351|582;678;678;659;643;637;656;641;595;580;573;595;523;560;581;310;318|347	.|ENSP00000343421:V582E;ENSP00000425721:V678E;ENSP00000379158:V678E;ENSP00000352098:V659E;ENSP00000320319:V643E;ENSP00000379157:V637E;ENSP00000422176:V656E;ENSP00000422677:V641E;ENSP00000339914:V595E;ENSP00000421130:V580E;ENSP00000312523:V573E;ENSP00000422325:V595E;ENSP00000425670:V523E;ENSP00000426946:V560E;ENSP00000423638:V581E;ENSP00000425787:V310E;ENSP00000422929:V318E|.	.|ENSP00000312523:V573E|.	S|V|X	+|+|+	3|2|1	2|0|0	CAST|CAST|CAST	96126781|96126781|96126781	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	4.956000|4.956000|4.956000	0.63645|0.63645|0.63645	2.209000|2.209000|2.209000	0.71365|0.71365|0.71365	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AGT|GTA|TAA		0.348	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		8	82	0	0	0	1	0	8	82				
FLG2	388698	broad.mit.edu	37	1	152323924	152323924	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152323924A>C	ENST00000388718.5	-	3	6410	c.6338T>G	c.(6337-6339)gTg>gGg	p.V2113G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2113					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGTGCACTTCACTGTC	0.532																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6337-6339)gTg>gGg		filaggrin family member 2							481.0	441.0	455.0					1																	152323924		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152323924A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6338T>G	1.37:g.152323924A>C	ENSP00000373370:p.Val2113Gly					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.V2113G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6410	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2113					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6338T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	4.372	0.068643	0.08436	.	.	ENSG00000143520	ENST00000388718	T	0.03831	3.79	4.68	-9.35	0.00633	.	.	.	.	.	T	0.00300	0.0009	N	0.01009	-1.055	0.09310	N	1	B	0.18013	0.025	B	0.22601	0.04	T	0.48410	-0.9038	9	0.13470	T	0.59	1.2476	0.1367	0.00079	0.2849:0.1887:0.1695:0.3569	.	2113	Q5D862	FILA2_HUMAN	G	2113	ENSP00000373370:V2113G	ENSP00000373370:V2113G	V	-	2	0	FLG2	150590548	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.993000	0.03720	-2.676000	0.00411	-0.530000	0.04314	GTG		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		25	2251	0	0	0	1	0	25	2251				
LDHAL6B	92483	broad.mit.edu	37	15	59499176	59499176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:59499176A>T	ENST00000307144.4	+	1	135	c.37A>T	c.(37-39)Aga>Tga	p.R13*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	13					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GGCCAGCCAGAGAGTGAGCTC	0.587																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(37-39)Aga>Tga		lactate dehydrogenase A-like 6B	NADH(DB00157)						39.0	37.0	38.0					15																	59499176		2191	4290	6481	SO:0001587	stop_gained	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499176A>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.37A>T	15.37:g.59499176A>T	ENSP00000302393:p.Arg13*					MYO1E_ENST00000288235.4_Intron	p.R13*	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	135	+			13					Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	c.37A>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780536	0.49891	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.49	-1.85	0.07784	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.0825	0.03638	0.3868:0.3445:0.2687:0.0	.	.	.	.	X	13	.	ENSP00000302393:R13X	R	+	1	2	LDHAL6B	57286468	0.095000	0.21747	0.001000	0.08648	0.093000	0.18481	0.391000	0.20784	-0.315000	0.08703	0.254000	0.18369	AGA		0.587	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		7	19	0	0	0	1	0	7	19				
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(151-153)Gct>Act		transient receptor potential cation channel, subfamily C, member 7							96.0	108.0	104.0					5																	135692925		2141	4264	6405	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692925C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.151G>A	5.37:g.135692925C>T	ENSP00000426070:p.Ala51Thr					TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T|TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T	p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	433	-			51					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.151G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		177	228	0	0	0	1	0	177	228				
CPLX2	10814	broad.mit.edu	37	5	175306865	175306865	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:175306865G>T	ENST00000359546.4	+	5	865	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N|CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	74	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCTGAAGAAGAAGGAGGAGA	0.647																																						ENST00000359546.4																			0				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10						c.(220-222)aaG>aaT		complexin 2							25.0	30.0	28.0					5																	175306865		2200	4300	6500	SO:0001583	missense	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306865G>T	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.222G>T	5.37:g.175306865G>T	ENSP00000352544:p.Lys74Asn					CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N|CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N	p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	865	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	74			Interaction with the SNARE complex (By similarity).		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	c.222G>T	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	g	19.22	3.785293	0.70337	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	5.38	3.6	0.41247	.	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	M	0.89715	3.055	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.81722	-0.0803	9	0.72032	D	0.01	-3.5723	10.2542	0.43388	0.1638:0.0:0.8362:0.0	.	74	Q6PUV4	CPLX2_HUMAN	N	74	.	ENSP00000352544:K74N	K	+	3	2	CPLX2	175239471	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.843000	0.62838	0.659000	0.30945	0.552000	0.68991	AAG		0.647	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			79	45	1	0	9.35349e-44	1	1.07737e-43	79	45				
LPHN1	22859	broad.mit.edu	37	19	14273947	14273947	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:14273947C>T	ENST00000340736.6	-	6	978	c.681G>A	c.(679-681)aaG>aaA	p.K227K	LPHN1_ENST00000361434.3_Silent_p.K222K|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	227	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGTGCGCTCCTTGTTGTAGA	0.607																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(679-681)aaG>aaA		latrophilin 1							144.0	101.0	116.0					19																	14273947		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273947C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.681G>A	19.37:g.14273947C>T						LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.K222K|CTB-55O6.12_ENST00000592086.1_RNA	p.K227K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	978	-			227			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.681G>A	CCDS32928.1																																																																																				0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	147	0	0	0	1	0	3	147				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						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						TTGTTTTTTTAGTTGCAACTA	0.333																																						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.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T								NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	5	75	0	0	0	1	0	5	75				
SUPT6H	6830	broad.mit.edu	37	17	27008349	27008349	+	Silent	SNP	C	C	T	rs62066801		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27008349C>T	ENST00000314616.6	+	12	1708	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SUPT6H_ENST00000347486.4_Silent_p.I475I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	475	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				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)					GCCGAGACATCCCTAAGATGC	0.448																																						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.(1423-1425)atC>atT		suppressor of Ty 6 homolog (S. cerevisiae)							99.0	93.0	95.0					17																	27008349		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:27008349C>T	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.1425C>T	17.37:g.27008349C>T						SUPT6H_ENST00000347486.4_Silent_p.I475I	p.I475I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			12	1708	+	Lung NSC(42;0.00431)		475					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.1425C>T	CCDS32596.1																																																																																				0.448	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		4	331	0	0	0	1	0	4	331				
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:208062058C>T	ENST00000310833.7	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.R314H|CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	314					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(940-942)cGc>cAc		CD34 molecule		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	201.0	218.0	212.0		941,941	4.5	1.0	1	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD34	NM_001025109.1,NM_001773.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	314/386,314/329	208062058	1,13005	2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062058C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.941G>A	1.37:g.208062058C>T	ENSP00000310036:p.Arg314His					CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	p.R314H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			7	1262	-			314					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.941G>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605709	0.87157	0.0	1.16E-4	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.54	4.54	0.55810	.	0.125644	0.56097	D	0.000035	T	0.68247	0.2980	L	0.61036	1.89	0.49483	D	0.999791	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.71101	-0.4690	10	0.87932	D	0	-10.7555	13.0066	0.58707	0.0:1.0:0.0:0.0	.	179;314;314;156	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	H	314;314;156;179;284	ENSP00000310036:R314H;ENSP00000348916:R314H;ENSP00000356003:R156H;ENSP00000442874:R179H	ENSP00000310036:R314H	R	-	2	0	CD34	206128681	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	CGC		0.562	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		11	1204	0	0	0	1	0	11	1204				
AKAP4	8852	broad.mit.edu	37	X	49957789	49957789	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:49957789A>T	ENST00000376056.2	-	5	1698	c.1548T>A	c.(1546-1548)aaT>aaA	p.N516K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.N525K|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.N516K					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTCATCTTTATTGCTGCATG	0.473																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1546-1548)aaT>aaA		A kinase (PRKA) anchor protein 4							213.0	174.0	187.0					X																	49957789		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957789A>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1548T>A	X.37:g.49957789A>T	ENSP00000365224:p.Asn516Lys					AKAP4_ENST00000358526.2_Missense_Mutation_p.N525K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.N516K|AKAP4_ENST00000376058.2_Intron	p.N516K			Q5JQC9	AKAP4_HUMAN			5	1698	-	Ovarian(276;0.236)		525						Missense_Mutation	SNP	ENST00000376056.2	37	c.1548T>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	A	1.124	-0.654317	0.03480	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.06142	3.34;3.34;3.34	4.93	0.809	0.18725	A-kinase anchor 110kDa, C-terminal (1);	0.894265	0.09498	N	0.793978	T	0.05273	0.0140	L	0.44542	1.39	0.09310	N	1	B	0.28820	0.224	B	0.23419	0.046	T	0.42137	-0.9469	9	.	.	.	-5.2687	3.5439	0.07821	0.5773:0.1967:0.226:0.0	.	525	Q5JQC9	AKAP4_HUMAN	K	516;525;516	ENSP00000365224:N516K;ENSP00000351327:N525K;ENSP00000365232:N516K	.	N	-	3	2	AKAP4	49844529	0.003000	0.15002	0.021000	0.16686	0.086000	0.17979	0.232000	0.17891	0.564000	0.29238	0.427000	0.28365	AAT		0.473	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		9	721	0	0	0	1	0	9	721				
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e3-1		coiled-coil domain containing 18							115.0	105.0	108.0					1																	93649533		1810	4073	5883	SO:0001630	splice_region_variant	343099							g.chr1:93649533A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.135-1A>T	1.37:g.93649533A>T						CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site				Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	636	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	19.31	3.803472	0.70682	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000448243;ENST00000370276	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93422121	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.947000	0.49058	2.306000	0.77630	0.482000	0.46254	.		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	7	118	0	0	0	1	0	7	118				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2404-2406)Taa>Aaa		PR domain containing 4							98.0	100.0	99.0					12																	108127989		2203	4300	6503	SO:0001578	stop_lost	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108127989A>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2404T>A	12.37:g.108127989A>T							p.*802K	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2863	-			0					Q9UFA6	Nonstop_Mutation	SNP	ENST00000228437.5	37	c.2404T>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072663	0.93950	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	1.0:0.0:0.0:0.0	.	.	.	.	K	802	.	.	X	-	1	0	PRDM4	106652119	0.488000	0.25996	0.470000	0.27216	0.939000	0.58152	4.818000	0.62657	2.313000	0.78055	0.454000	0.30748	TAA		0.358	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		10	192	0	0	0	1	0	10	192				
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152281389C>T	ENST00000368799.1	-	3	6008	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				-|||	9	0.00179712	0.0053	0.0029	5008	,	,		29400	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5971-5973)gcG>gcA		filaggrin		C		29,4377	33.5+/-64.1	0,29,2174	584.0	465.0	505.0		5973	-7.1	0.0	1	dbSNP_134	505	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,29,6474	TT,TC,CC		0.0,0.6582,0.223		1991/4062	152281389	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281389C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5973G>A	1.37:g.152281389C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A1991A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6008	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1991			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5973G>A	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	1035	0	0	0	1	0	10	1035				
NVL	4931	broad.mit.edu	37	1	224463162	224463162	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:224463162T>A	ENST00000281701.6	-	17	2222		c.e17-2		NVL_ENST00000391875.2_Splice_Site|NVL_ENST00000361463.3_Splice_Site|NVL_ENST00000469075.1_Splice_Site|NVL_ENST00000340871.4_Splice_Site|NVL_ENST00000482491.1_Splice_Site	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like							membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCAACATACTAAACATACAC	0.368																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.e17-2		nuclear VCP-like							94.0	89.0	91.0					1																	224463162		2203	4300	6503	SO:0001630	splice_region_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224463162T>A	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1963-2A>T	1.37:g.224463162T>A						NVL_ENST00000391875.2_Splice_Site|NVL_ENST00000340871.4_Splice_Site|NVL_ENST00000361463.3_Splice_Site|NVL_ENST00000482491.1_Splice_Site|NVL_ENST00000469075.1_Splice_Site		NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	17	2222	-								B4DMC4|B4DP98|Q96EM7	Splice_Site	SNP	ENST00000281701.6	37		CCDS1541.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517189	0.64634	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469968;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8485	0.70277	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NVL	222529785	1.000000	0.71417	0.929000	0.37066	0.542000	0.35054	7.595000	0.82710	1.980000	0.57719	0.460000	0.39030	.		0.368	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	Intron	11	442	0	0	0	1	0	11	442				
CDH6	1004	broad.mit.edu	37	5	31317480	31317480	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:31317480A>T	ENST00000265071.2	+	10	1777		c.e10-1		CDH6_ENST00000514738.1_Splice_Site	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTTCTCTTAGTTGATTCAG	0.368																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.e10-1		cadherin 6, type 2, K-cadherin (fetal kidney)							69.0	64.0	66.0					5																	31317480		2203	4300	6503	SO:0001630	splice_region_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317480A>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1513-1A>T	5.37:g.31317480A>T						CDH6_ENST00000514738.1_Splice_Site		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			10	1777	+								A8K5H5|Q9BWS0	Splice_Site	SNP	ENST00000265071.2	37		CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781191	0.70222	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7327	0.69393	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH6	31353237	1.000000	0.71417	0.917000	0.36280	0.892000	0.51952	8.670000	0.91168	2.119000	0.64992	0.528000	0.53228	.		0.368	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	Intron	7	220	0	0	0	1	0	7	220				
POLK	51426	broad.mit.edu	37	5	74889874	74889874	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:74889874G>A	ENST00000241436.4	+	12	1700	c.1528G>A	c.(1528-1530)Ggt>Agt	p.G510S	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420S|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGGCTTATGGGTATGACTTT	0.353								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.e12+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							111.0	109.0	110.0					5																	74889874		2202	4300	6502	SO:0001630	splice_region_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74889874G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1528+1G>A	5.37:g.74889874G>A						POLK_ENST00000380481.3_Splice_Site_p.G420_splice|POLK_ENST00000508526.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron	p.G510_splice	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	12	1700	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	510					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Splice_Site	SNP	ENST00000241436.4	37	c.1528_splice	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587397	0.96590	.	.	ENSG00000122008	ENST00000241436;ENST00000380481	D;D	0.82344	-1.6;-1.6	5.83	5.83	0.93111	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94982	0.8126	10	0.87932	D	0	-17.3401	20.1238	0.97972	0.0:0.0:1.0:0.0	.	510	Q9UBT6	POLK_HUMAN	S	510;420	ENSP00000241436:G510S;ENSP00000369848:G420S	ENSP00000241436:G510S	G	+	1	0	POLK	74925630	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.790000	0.99075	2.756000	0.94617	0.585000	0.79938	GGT		0.353	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	Missense_Mutation	116	57	0	0	0	1	0	116	57				
SEPT12	124404	broad.mit.edu	37	16	4834040	4834040	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4834040T>C	ENST00000268231.8	-	5	667	c.404A>G	c.(403-405)gAg>gGg	p.E135G	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	135	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCGTATTGCTCGTTGATGTA	0.622																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(403-405)gAg>gGg		septin 12							185.0	161.0	169.0					16																	4834040		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4834040T>C	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.404A>G	16.37:g.4834040T>C	ENSP00000268231:p.Glu135Gly					SEPT12_ENST00000396693.5_Intron	p.E135G	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			5	667	-			135					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.404A>G	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847336	0.32606	.	.	ENSG00000140623	ENST00000268231	T	0.55588	0.51	4.53	0.987	0.19790	.	0.456909	0.24226	N	0.040389	T	0.49167	0.1541	M	0.80422	2.495	0.35814	D	0.824106	B	0.12013	0.005	B	0.17979	0.02	T	0.49263	-0.8958	10	0.59425	D	0.04	.	5.1743	0.15127	0.0:0.1714:0.1675:0.6611	.	135	Q8IYM1	SEP12_HUMAN	G	135	ENSP00000268231:E135G	ENSP00000268231:E135G	E	-	2	0	SEPT12	4774041	0.999000	0.42202	0.976000	0.42696	0.467000	0.32768	4.093000	0.57714	-0.001000	0.14495	0.260000	0.18958	GAG		0.622	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		4	426	0	0	0	1	0	4	426				
RIF1	55183	broad.mit.edu	37	2	152314353	152314353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:152314353C>G	ENST00000243326.5	+	23	3214	c.2731C>G	c.(2731-2733)Caa>Gaa	p.Q911E	RIF1_ENST00000453091.2_Missense_Mutation_p.Q911E|RIF1_ENST00000430328.2_Missense_Mutation_p.Q911E|RIF1_ENST00000428287.2_Missense_Mutation_p.Q911E|RIF1_ENST00000444746.2_Missense_Mutation_p.Q911E			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTTCTTGAACAACTCTCCCC	0.363																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2731-2733)Caa>Gaa		RAP1 interacting factor homolog (yeast)							91.0	90.0	90.0					2																	152314353		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152314353C>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2731C>G	2.37:g.152314353C>G	ENSP00000243326:p.Gln911Glu					RIF1_ENST00000444746.2_Missense_Mutation_p.Q911E|RIF1_ENST00000453091.2_Missense_Mutation_p.Q911E|RIF1_ENST00000428287.2_Missense_Mutation_p.Q911E|RIF1_ENST00000430328.2_Missense_Mutation_p.Q911E	p.Q911E			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	23	3214	+			911					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2731C>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490595	0.44249	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	6.03	6.03	0.97812	.	0.688639	0.15646	N	0.251648	T	0.46639	0.1403	N	0.24115	0.695	0.80722	D	1	B;B	0.20550	0.015;0.046	B;B	0.14578	0.008;0.011	T	0.33701	-0.9858	10	0.20519	T	0.43	0.5703	11.4551	0.50176	0.1396:0.7257:0.1347:0.0	.	911;911	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	E	911	ENSP00000390181:Q911E;ENSP00000414615:Q911E;ENSP00000415691:Q911E;ENSP00000243326:Q911E;ENSP00000416123:Q911E	ENSP00000243326:Q911E	Q	+	1	0	RIF1	152022599	0.996000	0.38824	0.977000	0.42913	0.985000	0.73830	0.999000	0.29757	2.861000	0.98227	0.655000	0.94253	CAA		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	87	0	0	0	1	0	8	87				
CCDC181	57821	broad.mit.edu	37	1	169390632	169390632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:169390632A>T	ENST00000367806.3	-	3	1189	c.1037T>A	c.(1036-1038)cTa>cAa	p.L346Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.L346Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	346						nucleus (GO:0005634)											CTTTTCTTCTAGTTGTTTTTG	0.368																																						ENST00000545005.1																			0											c.(1036-1038)cTa>cAa		coiled-coil domain containing 181							63.0	60.0	61.0					1																	169390632		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390632A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1037T>A	1.37:g.169390632A>T	ENSP00000356780:p.Leu346Gln					CCDC181_ENST00000367805.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L346Q	p.L346Q							4	1544	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1037T>A		.	.	.	.	.	.	.	.	.	.	A	11.28	1.591928	0.28357	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.27402	1.86;1.86;1.86;1.67	5.32	4.17	0.49024	.	0.437819	0.23847	N	0.043981	T	0.39118	0.1066	M	0.69823	2.125	0.41978	D	0.990781	B;D;D	0.76494	0.328;0.999;0.999	B;D;D	0.65874	0.104;0.939;0.939	T	0.46091	-0.9216	9	0.62326	D	0.03	-8.322	11.4469	0.50129	0.8648:0.0:0.0:0.1352	.	346;346;346	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	346	ENSP00000356779:L346Q;ENSP00000356780:L346Q;ENSP00000442297:L346Q;ENSP00000411000:L346Q	ENSP00000356779:L346Q	L	-	2	0	C1orf114	167657256	0.120000	0.22244	0.003000	0.11579	0.156000	0.22039	3.047000	0.49854	0.825000	0.34637	0.374000	0.22700	CTA		0.368	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		8	169	0	0	0	1	0	8	169				
ZFHX3	463	broad.mit.edu	37	16	72831569	72831569	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:72831569G>A	ENST00000268489.5	-	9	5684	c.5012C>T	c.(5011-5013)gCt>gTt	p.A1671V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A757V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1671					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCAATGCCAGCACTGCTTGG	0.542																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5011-5013)gCt>gTt		zinc finger homeobox 3							128.0	106.0	114.0					16																	72831569		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831569G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5012C>T	16.37:g.72831569G>A	ENSP00000268489:p.Ala1671Val					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A757V	p.A1671V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5684	-		Ovarian(137;0.13)	1671					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5012C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	g	1.400	-0.578278	0.03854	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73258	-0.73;-0.71	5.87	1.55	0.23275	.	0.460652	0.18047	N	0.153425	T	0.42877	0.1222	N	0.08118	0	0.23681	N	0.99712	B	0.02656	0.0	B	0.04013	0.001	T	0.20571	-1.0271	10	0.13470	T	0.59	.	6.6947	0.23193	0.2071:0.1274:0.6655:0.0	.	1671	Q15911	ZFHX3_HUMAN	V	1671;757	ENSP00000268489:A1671V;ENSP00000438926:A757V	ENSP00000268489:A1671V	A	-	2	0	ZFHX3	71389070	1.000000	0.71417	0.555000	0.28281	0.002000	0.02628	4.636000	0.61339	0.503000	0.28060	-0.726000	0.03593	GCT		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		5	455	0	0	0	1	0	5	455				
AP1S3	130340	broad.mit.edu	37	2	224640714	224640714	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:224640714T>A	ENST00000446015.2	-	3	228	c.195A>T	c.(193-195)ttA>ttT	p.L65F	AP1S3_ENST00000423110.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396654.2_Missense_Mutation_p.L65F|AP1S3_ENST00000409375.1_Missense_Mutation_p.L65F|AP1S3_ENST00000443700.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396653.2_Intron			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	65					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGCAAAAATATAAACTAGCAT	0.368																																						ENST00000443700.1																			0				NS(1)|breast(1)|lung(2)	4						c.(193-195)ttA>ttT		adaptor-related protein complex 1, sigma 3 subunit							72.0	64.0	67.0					2																	224640714		1874	4110	5984	SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224640714T>A	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.195A>T	2.37:g.224640714T>A	ENSP00000388738:p.Leu65Phe					AP1S3_ENST00000396654.2_Missense_Mutation_p.L65F|AP1S3_ENST00000409375.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396653.2_Intron|AP1S3_ENST00000446015.2_Missense_Mutation_p.L65F|AP1S3_ENST00000423110.1_Missense_Mutation_p.L65F	p.L65F			Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	346	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	65					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	ENST00000446015.2	37	c.195A>T		.	.	.	.	.	.	.	.	.	.	T	21.1	4.104588	0.77096	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000446015;ENST00000409375;ENST00000423110	.	.	.	6.17	3.81	0.43845	Clathrin adaptor complex, small chain (1);Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.87452	0.2402	9	0.87932	D	0	.	8.5903	0.33684	0.0:0.2872:0.0:0.7128	.	65;65	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	F	65	.	ENSP00000379891:L65F	L	-	3	2	AP1S3	224348958	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.511000	0.22739	0.569000	0.29329	0.533000	0.62120	TTA		0.368	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			5	113	0	0	0	1	0	5	113				
VPS13C	54832	broad.mit.edu	37	15	62168046	62168046	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:62168046T>A	ENST00000261517.5	-	76	10298		c.e76-2		VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000558919.1_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCAAGAACTAAAAAAGAAA	0.289																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.e76-2		vacuolar protein sorting 13 homolog C (S. cerevisiae)							56.0	55.0	55.0					15																	62168046		2203	4295	6498	SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62168046T>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10225-2A>T	15.37:g.62168046T>A						VPS13C_ENST00000558919.1_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site		NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			76	10298	-									Splice_Site	SNP	ENST00000261517.5	37		CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937801	0.52972	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6632	0.68888	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	59955338	1.000000	0.71417	0.940000	0.37924	0.584000	0.36387	7.647000	0.83462	1.873000	0.54277	0.383000	0.25322	.		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Intron	4	32	0	0	0	1	0	4	32				
CASQ1	844	broad.mit.edu	37	1	160160577	160160577	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:160160577G>A	ENST00000368078.3	+	1	232	c.36G>A	c.(34-36)gtG>gtA	p.V12V	CASQ1_ENST00000368079.3_Silent_p.V6V			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	12					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGAGCTGTGCCGGGTCTGC	0.627																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(16-18)gtG>gtA		calsequestrin 1 (fast-twitch, skeletal muscle)							58.0	52.0	54.0					1																	160160577		2203	4300	6503	SO:0001819	synonymous_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160577G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.36G>A	1.37:g.160160577G>A						CASQ1_ENST00000368078.3_Silent_p.V12V	p.V6V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	293	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		12					B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	c.18G>A	CCDS1198.2																																																																																				0.627	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		20	120	0	0	0	1	0	20	120				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A						OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site		NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	8	204	0	0	0	1	0	8	204				
ANKRD52	283373	broad.mit.edu	37	12	56642010	56642010	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56642010T>A	ENST00000267116.7	-	18	1898		c.e18-2			NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52											endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTTGTAGGCCTGGCAAGGTGC	0.612																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.e18-2		ankyrin repeat domain 52							71.0	71.0	71.0					12																	56642010		2117	4236	6353	SO:0001630	splice_region_variant	283373						protein binding	g.chr12:56642010T>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1777-2A>T	12.37:g.56642010T>A								NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	1898	-								A6NE79|B1Q2K2	Splice_Site	SNP	ENST00000267116.7	37		CCDS44920.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.008908	0.54361	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2155	0.59856	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD52	54928277	1.000000	0.71417	0.986000	0.45419	0.490000	0.33462	7.592000	0.82676	2.034000	0.60081	0.260000	0.18958	.		0.612	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	Intron	4	409	0	0	0	1	0	4	409				
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.I707I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAGCAAAATTAACCAAACCA	0.458																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2119-2121)atT>atA		zinc finger protein 462							175.0	160.0	165.0					9																	109688314		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688314T>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2121T>A	9.37:g.109688314T>A						ZNF462_ENST00000457913.1_Silent_p.I707I	p.I707I			Q96JM2	ZN462_HUMAN			3	2410	+			707					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.2121T>A	CCDS35096.1																																																																																				0.458	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	305	0	0	0	1	0	5	305				
EDEM2	55741	broad.mit.edu	37	20	33722751	33722751	+	Splice_Site	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:33722751G>C	ENST00000374492.3	-	6	597	c.492C>G	c.(490-492)gcC>gcG	p.A164A	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Splice_Site_p.A123A|EDEM2_ENST00000374491.3_Splice_Site_p.A127A	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	164					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTCTGAAAGGCTGAACAAT	0.542																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.e10-1		ER degradation enhancer, mannosidase alpha-like 2							68.0	62.0	64.0					20																	33722751		2203	4300	6503	SO:0001630	splice_region_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722751G>C	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.491-1C>G	20.37:g.33722751G>C						EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Splice_Site_p.A127_splice|EDEM2_ENST00000374492.3_Splice_Site_p.A164_splice	p.A123_splice			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1090	-			164					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Splice_Site	SNP	ENST00000374492.3	37	c.367_splice	CCDS13247.1																																																																																				0.542	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217	Silent	10	247	0	0	0	1	0	10	247				
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:149783718C>T	ENST00000369167.1	-	1	196	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597																																						ENST00000427880.2																			2	Substitution - Missense(2)	p.G54D(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gGc>gAc		histone cluster 2, H2bf							157.0	145.0	149.0					1																	149783718		2203	4297	6500	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783718C>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.161G>A	1.37:g.149783718C>T	ENSP00000358164:p.Gly54Asp					HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D	p.G54D			Q5QNW6	H2B2F_HUMAN			1	207	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.161G>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056130	0.93793	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.69435	-0.4;-0.4;-0.4	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000147	D	0.86810	0.6022	H	0.98487	4.245	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.81914	0.995;0.99;0.964	D	0.91519	0.5233	10	0.87932	D	0	.	14.9173	0.70807	0.0:1.0:0.0:0.0	.	54;54;54	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	54	ENSP00000445831:G54D;ENSP00000407461:G54D;ENSP00000358164:G54D	ENSP00000358164:G54D	G	-	2	0	HIST2H2BF	148050342	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.994000	0.76251	2.283000	0.76528	0.184000	0.17185	GGC		0.597	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		12	1028	0	0	0	1	0	12	1028				
PDLIM4	8572	broad.mit.edu	37	5	131598428	131598428	+	Missense_Mutation	SNP	G	G	T	rs138635559	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:131598428G>T	ENST00000253754.3	+	2	284	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	74	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTGCCACGATCACCTCAC	0.597																																						ENST00000253754.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10						c.(220-222)Gat>Tat		PDZ and LIM domain 4							97.0	69.0	78.0					5																	131598428		2203	4300	6503	SO:0001583	missense	8572						protein binding|zinc ion binding	g.chr5:131598428G>T	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.220G>T	5.37:g.131598428G>T	ENSP00000253754:p.Asp74Tyr					PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y|P4HA2_ENST00000471826.1_Intron	p.D74Y	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	284	+			74			PDZ.		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	c.220G>T	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091780	0.55968	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.39997	1.6;1.6;1.05	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.175857	0.49305	D	0.000154	T	0.61324	0.2338	L	0.59967	1.855	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.986;0.995;0.955	T	0.57545	-0.7793	10	0.40728	T	0.16	-25.7237	17.141	0.86752	0.0:0.0:1.0:0.0	.	74;15;74	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	Y	74;74;15	ENSP00000253754:D74Y;ENSP00000368303:D74Y;ENSP00000411753:D15Y	ENSP00000253754:D74Y	D	+	1	0	PDLIM4	131626327	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	6.552000	0.73914	2.642000	0.89623	0.655000	0.94253	GAT		0.597	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		23	76	1	0	4.43304e-23	1	4.97586e-23	23	76				
TNRC6B	23112	broad.mit.edu	37	22	40662685	40662685	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:40662685T>A	ENST00000454349.2	+	5	2662	c.2451T>A	c.(2449-2451)aaT>aaA	p.N817K	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.N817K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	817	Interaction with argonaute proteins.				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						ATTCCTGGAATAAACAACACC	0.592																																						ENST00000454349.2																			0				breast(1)	1						c.(2449-2451)aaT>aaA		trinucleotide repeat containing 6B							66.0	81.0	76.0					22																	40662685		2063	4211	6274	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662685T>A	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.2451T>A	22.37:g.40662685T>A	ENSP00000401946:p.Asn817Lys					TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.N817K|TNRC6B_ENST00000301923.9_Intron	p.N817K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2662	+			817					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2451T>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.13|18.13	3.554482|3.554482	0.65425|0.65425	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.11712	.|2.76;2.75	5.35|5.35	-0.331|-0.331	0.12679|0.12679	.|.	.|0.369559	.|0.31461	.|N	.|0.007612	T|T	0.18718|0.18718	0.0449|0.0449	L|L	0.43152|0.43152	1.355|1.355	0.33224|0.33224	D|D	0.555042|0.555042	.|B;D;D	.|0.61080	.|0.1;0.981;0.989	.|B;D;D	.|0.70487	.|0.024;0.932;0.969	T|T	0.10177|0.10177	-1.0641|-1.0641	5|10	.|0.21540	.|T	.|0.41	-0.1435|-0.1435	11.4258|11.4258	0.50009|0.50009	0.0:0.5744:0.0:0.4256|0.0:0.5744:0.0:0.4256	.|.	.|817;817;817	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	K|K	560|817	.|ENSP00000401946:N817K;ENSP00000338371:N817K	.|ENSP00000338371:N817K	I|N	+|+	2|3	0|2	TNRC6B|TNRC6B	38992631|38992631	0.999000|0.999000	0.42202|0.42202	0.992000|0.992000	0.48379|0.48379	0.969000|0.969000	0.65631|0.65631	0.642000|0.642000	0.24735|0.24735	-0.146000|-0.146000	0.11274|0.11274	0.459000|0.459000	0.35465|0.35465	ATA|AAT		0.592	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	220	0	0	0	1	0	5	220				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu						p.M255L	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		8	665	0	0	0	1	0	8	665				
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:113374871A>T	ENST00000478658.1	-	5	5675	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000316407.4_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1886						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5656-5658)atT>atA		KIAA2018							112.0	106.0	108.0					3																	113374871		1915	4134	6049	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374871A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5658T>A	3.37:g.113374871A>T						KIAA2018_ENST00000478658.1_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron	p.I1886I	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6068	-			1886					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.5658T>A	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	132	0	0	0	1	0	5	132				
MGEA5	10724	broad.mit.edu	37	10	103559214	103559214	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:103559214T>A	ENST00000361464.3	-	9	1591		c.e9-2		MGEA5_ENST00000370094.3_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000439817.1_Splice_Site	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGCCTACCTACAAAAATAA	0.348																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.e9-2		meningioma expressed antigen 5 (hyaluronidase)							58.0	66.0	63.0					10																	103559214		2200	4299	6499	SO:0001630	splice_region_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103559214T>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1196-2A>T	10.37:g.103559214T>A						MGEA5_ENST00000439817.1_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000370094.3_Splice_Site		NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1591	-		Colorectal(252;0.207)						B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Splice_Site	SNP	ENST00000361464.3	37		CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069606	0.55539	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MGEA5	103549204	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.161000	0.77505	2.367000	0.80283	0.528000	0.53228	.		0.348	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215	Intron	5	97	0	0	0	1	0	5	97				
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:111694794A>T	ENST00000358835.3	-	14	5218	c.4764T>A	c.(4762-4764)agT>agA	p.S1588R	REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000435970.1_Missense_Mutation_p.S1510R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(4528-4530)agT>agA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							176.0	184.0	181.0					6																	111694794		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694794A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4764T>A	6.37:g.111694794A>T	ENSP00000351697:p.Ser1588Arg					REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R	p.S1510R			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5346	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1588					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.4530T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	8.135	0.783964	0.16189	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01538	4.88;4.88;4.88;4.79	6.04	4.86	0.63082	Ribonuclease H-like (1);	0.338132	0.33534	N	0.004805	T	0.00524	0.0017	N	0.25647	0.755	0.24738	N	0.993058	B	0.11235	0.004	B	0.06405	0.002	T	0.50021	-0.8876	10	0.33141	T	0.24	-0.7701	5.553	0.17101	0.7325:0.0:0.1342:0.1333	.	1588	O60673	DPOLZ_HUMAN	R	1588;1588;1588;1510	ENSP00000357792:S1588R;ENSP00000357795:S1588R;ENSP00000351697:S1588R;ENSP00000402003:S1510R	ENSP00000351697:S1588R	S	-	3	2	REV3L	111801487	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	2.554000	0.45845	1.065000	0.40693	0.460000	0.39030	AGT		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	187	0	0	0	1	0	5	187				
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily D, member 1							150.0	149.0	149.0					17																	56232618		2037	4214	6251	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232618A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.104A>T	17.37:g.56232618A>T	ENSP00000365451:p.Tyr35Phe						p.Y35F	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	125	+			35					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.104A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.787754	0.49997	.	.	ENSG00000141194	ENST00000268912	T	0.04406	3.63	5.63	5.63	0.86233	.	0.000000	0.37437	U	0.002095	T	0.17874	0.0429	M	0.78344	2.41	0.09310	N	1	D	0.55385	0.971	P	0.57324	0.818	T	0.04128	-1.0975	10	0.87932	D	0	-16.5865	13.7938	0.63157	1.0:0.0:0.0:0.0	.	35	Q15615	OR4D1_HUMAN	F	35	ENSP00000365451:Y35F	ENSP00000365451:Y35F	Y	+	2	0	OR4D1	53587617	0.997000	0.39634	0.586000	0.28679	0.233000	0.25261	4.265000	0.58865	2.142000	0.66516	0.443000	0.29094	TAT		0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			5	420	0	0	0	1	0	5	420				
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	rs545954539		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1822-1824)cGa>cAa		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						53.0	53.0	53.0					12																	6457292		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457292C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1757G>A	12.37:g.6457292C>T	ENSP00000228916:p.Arg586Gln					SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q	p.R608Q			P37088	SCNNA_HUMAN			13	2263	-			586					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1823G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA		0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			6	65	0	0	0	1	0	6	65				
ZNF560	147741	broad.mit.edu	37	19	9578180	9578180	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9578180A>T	ENST00000301480.4	-	10	1656	c.1443T>A	c.(1441-1443)agT>agA	p.S481R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTCCTGTGTTACTTCTTCTAT	0.408																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1441-1443)agT>agA		zinc finger protein 560							204.0	219.0	214.0					19																	9578180		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578180A>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1443T>A	19.37:g.9578180A>T	ENSP00000301480:p.Ser481Arg						p.S481R	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1656	-			481					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1443T>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	5.459	0.269781	0.10349	.	.	ENSG00000198028	ENST00000301480	T	0.42131	0.98	1.91	-3.83	0.04269	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21674	0.0522	N	0.17594	0.5	0.18873	N	0.999985	B	0.06786	0.001	B	0.04013	0.001	T	0.13656	-1.0501	9	0.87932	D	0	.	3.8012	0.08758	0.3353:0.335:0.0:0.3296	.	481	Q96MR9	ZN560_HUMAN	R	481	ENSP00000301480:S481R	ENSP00000301480:S481R	S	-	3	2	ZNF560	9439180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.053000	0.01400	-1.710000	0.01397	-0.644000	0.03951	AGT		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		12	454	0	0	0	1	0	12	454				
DCLK1	9201	broad.mit.edu	37	13	36383156	36383156	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:36383156C>A	ENST00000360631.3	-	13	1976	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	DCLK1_ENST00000379893.1_Splice_Site_p.G282*|DCLK1_ENST00000255448.4_Splice_Site_p.G589*			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCCCATACCCACGGAATGGA	0.478																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.e13+1		doublecortin-like kinase 1							94.0	82.0	86.0					13																	36383156		2203	4300	6503	SO:0001630	splice_region_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36383156C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1766+1G>T	13.37:g.36383156C>A						DCLK1_ENST00000379893.1_Splice_Site_p.G282_splice|DCLK1_ENST00000360631.3_Splice_Site_p.G589_splice	p.G589_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	13	1976	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	589			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Splice_Site	SNP	ENST00000360631.3	37	c.1766_splice		.	.	.	.	.	.	.	.	.	.	C	41	8.858504	0.98980	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3955	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	281;589;589;282;571	.	ENSP00000255448:G589X	G	-	1	0	DCLK1	35281156	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.992000	0.70609	2.589000	0.87451	0.557000	0.71058	GGA		0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	Nonsense_Mutation	5	251	1	0	0.00198382	1	0.00205868	5	251				
KAT6B	23522	broad.mit.edu	37	10	76748798	76748798	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:76748798T>A	ENST00000287239.4	+	13	3046	c.2557T>A	c.(2557-2559)Tat>Aat	p.Y853N	KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	853	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCAGCAGAAGTATAATGTCTC	0.448																																						ENST00000287239.4																			0											c.(2557-2559)Tat>Aat		K(lysine) acetyltransferase 6B							158.0	156.0	157.0					10																	76748798		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76748798T>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2557T>A	10.37:g.76748798T>A	ENSP00000287239:p.Tyr853Asn					KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N	p.Y853N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			13	3046	+			853			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2557T>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245887	0.39697	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79141	-1.17;-1.17;-1.24;-1.17;-1.21	5.85	4.71	0.59529	.	0.150617	0.30879	N	0.008689	D	0.82379	0.5024	L	0.49513	1.565	0.58432	D	0.999999	D;P;D	0.71674	0.997;0.915;0.998	P;B;P	0.62491	0.903;0.403;0.835	T	0.82633	-0.0361	10	0.59425	D	0.04	-10.4689	11.9333	0.52860	0.0:0.0683:0.0:0.9317	.	670;561;853	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	561;561;853;561;670	ENSP00000361810:Y561N;ENSP00000361809:Y561N;ENSP00000287239:Y853N;ENSP00000361799:Y561N;ENSP00000361796:Y670N	ENSP00000287239:Y853N	Y	+	1	0	KAT6B	76418804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.022000	0.39626	0.528000	0.53228	TAT		0.448	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		42	197	0	0	0	1	0	42	197				
USP11	8237	broad.mit.edu	37	X	47099251	47099251	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:47099251G>A	ENST00000218348.3	+	4	609	c.609G>A	c.(607-609)cgG>cgA	p.R203R	USP11_ENST00000377107.2_Silent_p.R160R	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	203					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCTTGTCCGGCACAATGATT	0.498																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(478-480)cgG>cgA		ubiquitin specific peptidase 11							214.0	155.0	175.0					X																	47099251		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099251G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.609G>A	X.37:g.47099251G>A						USP11_ENST00000218348.3_Silent_p.R203R	p.R160R			P51784	UBP11_HUMAN			4	834	+			203	A -> R (in Ref. 3; BAC20463).		DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.480G>A	CCDS14277.1																																																																																				0.498	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		5	590	0	0	0	1	0	5	590				
NR6A1	2649	broad.mit.edu	37	9	127289057	127289057	+	Splice_Site	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:127289057C>T	ENST00000487099.2	-	8	1359		c.e8+1		NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CAGCCACTCACCTTGATTTAG	0.512																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.e8+1		nuclear receptor subfamily 6, group A, member 1							181.0	156.0	164.0					9																	127289057		2203	4300	6503	SO:0001630	splice_region_variant	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127289057C>T	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1201+1G>A	9.37:g.127289057C>T						NR6A1_ENST00000416460.2_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000373584.3_Splice_Site		NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			8	1359	-								O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Splice_Site	SNP	ENST00000487099.2	37		CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.041080	0.93685	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4774	0.90798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR6A1	126328878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.228000	0.78079	2.665000	0.90641	0.655000	0.94253	.		0.512	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		Intron	6	301	0	0	0	1	0	6	301				
GLCCI1	113263	broad.mit.edu	37	7	8126006	8126006	+	Silent	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:8126006T>G	ENST00000223145.5	+	8	2039	c.1482T>G	c.(1480-1482)gtT>gtG	p.V494V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTGACCGTTGAGCAGCTCT	0.557																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1480-1482)gtT>gtG		glucocorticoid induced transcript 1							191.0	209.0	203.0					7																	8126006		2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8126006T>G	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1482T>G	7.37:g.8126006T>G							p.V494V	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2039	+		Ovarian(82;0.0608)	494					A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.1482T>G	CCDS34601.1																																																																																				0.557	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		176	570	0	0	0	1	0	176	570				
UBA7	7318	broad.mit.edu	37	3	49847308	49847308	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:49847308G>T	ENST00000333486.3	-	15	2002	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	615					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATGCCGGGCCCACTGTGG	0.587																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1843-1845)gCc>gAc		ubiquitin-like modifier activating enzyme 7							89.0	95.0	93.0					3																	49847308		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847308G>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1844C>A	3.37:g.49847308G>T	ENSP00000333266:p.Ala615Asp						p.A615D	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2002	-			615					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1844C>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482713	0.96307	.	.	ENSG00000182179	ENST00000333486	T	0.47177	0.85	6.07	6.07	0.98685	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.048738	0.85682	D	0.000000	T	0.79534	0.4462	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84602	0.0673	10	0.87932	D	0	-20.715	18.8245	0.92111	0.0:0.0:1.0:0.0	.	615	P41226	UBA7_HUMAN	D	615	ENSP00000333266:A615D	ENSP00000333266:A615D	A	-	2	0	UBA7	49822312	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	6.299000	0.72770	2.884000	0.98904	0.655000	0.94253	GCC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		71	32	1	0	6.5469e-37	1	7.48217e-37	71	32				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T								NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	5	74	0	0	0	1	0	5	74				
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6826-6828)acG>acA		phosphodiesterase 4D interacting protein							256.0	282.0	273.0					1																	144857634		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857634C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6420G>A	1.37:g.144857634C>T						PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000524974.1_5'UTR	p.T2276T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	42	6866	-			2140					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6828G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		111	641	0	0	0	1	0	111	641				
TTN	7273	broad.mit.edu	37	2	179600277	179600277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:179600277C>T	ENST00000591111.1	-	48	14169	c.13945G>A	c.(13945-13947)Gct>Act	p.A4649T	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A4966T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12399	Ig-like 26.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCCAGCCTCATTTGAA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14896-14898)Gct>Act		titin							42.0	41.0	41.0					2																	179600277		1862	4109	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600277C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13945G>A	2.37:g.179600277C>T	ENSP00000465570:p.Ala4649Thr					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN_ENST00000591111.1_Missense_Mutation_p.A4649T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	p.A4966T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	15120	-			4649			Ig-like 30.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14896G>A		.	.	.	.	.	.	.	.	.	.	C	15.58	2.875736	0.51695	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80460	0.4627	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80450	-0.1377	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	4649	Q8WZ42	TITIN_HUMAN	T	3722	ENSP00000343764:A3722T	ENSP00000343764:A3722T	A	-	1	0	TTN	179308522	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	32	0	0	0	1	0	31	32				
SLC30A7	148867	broad.mit.edu	37	1	101427382	101427382	+	Splice_Site	SNP	A	A	T	rs5776552		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:101427382A>T	ENST00000370112.4	+	9	1029		c.e9-1		SLC30A7_ENST00000357650.4_Splice_Site	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7						cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CCTTTTCCTTAGTGTTATTCC	0.368																																					NSCLC(91;473 1491 3102 16827 21633)	ENST00000370112.4																			0				endometrium(3)|large_intestine(2)|lung(10)	15						c.e9-1		solute carrier family 30 (zinc transporter), member 7							155.0	159.0	157.0					1																	101427382		2203	4300	6503	SO:0001630	splice_region_variant	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101427382A>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.843-1A>T	1.37:g.101427382A>T						SLC30A7_ENST00000357650.4_Splice_Site		NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	9	1029	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)						B2R949|D3DT61|Q8TCH2	Splice_Site	SNP	ENST00000370112.4	37		CCDS776.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738797	0.69304	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5419	0.76057	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A7	101199970	1.000000	0.71417	0.934000	0.37439	0.970000	0.65996	8.746000	0.91604	2.072000	0.62099	0.528000	0.53228	.		0.368	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496	Intron	6	93	0	0	0	1	0	6	93				
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Splice_Site	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.e13-1		alpha-2-macroglobulin-like 1							74.0	73.0	73.0					12																	8998036		1867	4096	5963	SO:0001630	splice_region_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8998036A>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1477-1A>T	12.37:g.8998036A>T						A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			13	1656	+									Splice_Site	SNP	ENST00000299698.7	37		CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286896	0.40494	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000536789;ENST00000539547;ENST00000545692	.	.	.	4.0	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9493	0.24536	0.804:0.0:0.196:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	A2ML1	8889303	1.000000	0.71417	0.856000	0.33681	0.964000	0.63967	4.210000	0.58500	0.884000	0.36064	0.459000	0.35465	.		0.428	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	Intron	8	201	0	0	0	1	0	8	201				
LTBP2	4053	broad.mit.edu	37	14	74973489	74973489	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:74973489G>A	ENST00000261978.4	-	27	4331	c.3945C>T	c.(3943-3945)agC>agT	p.S1315S	LTBP2_ENST00000556690.1_Silent_p.S1271S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1315	Cys-rich.|EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAAGCCGTGGCTGCCACACA	0.597																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3943-3945)agC>agT		latent transforming growth factor beta binding protein 2							103.0	72.0	83.0					14																	74973489		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74973489G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3945C>T	14.37:g.74973489G>A						LTBP2_ENST00000556690.1_Silent_p.S1271S	p.S1315S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	27	4331	-			1315			Cys-rich.|EGF-like 15; calcium-binding (Potential).		Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.3945C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	9.066	0.995689	0.19043	.	.	ENSG00000119681	ENST00000556206	.	.	.	4.71	2.86	0.33363	.	.	.	.	.	T	0.61110	0.2321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56547	-0.7961	4	.	.	.	.	10.7427	0.46162	0.1549:0.0:0.8451:0.0	.	.	.	.	S	207	.	.	P	-	1	0	LTBP2	74043242	0.921000	0.31238	0.992000	0.48379	0.846000	0.48090	1.396000	0.34531	0.585000	0.29608	0.561000	0.74099	CCA		0.597	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		16	35	0	0	0	1	0	16	35				
PLTP	5360	broad.mit.edu	37	20	44531163	44531163	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:44531163G>T	ENST00000477313.1	-	10	1617	c.1023C>A	c.(1021-1023)ggC>ggA	p.G341G	PLTP_ENST00000420868.2_Silent_p.G246G|PLTP_ENST00000542937.1_Silent_p.G361G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000372431.3_Silent_p.G341G			P55058	PLTP_HUMAN	phospholipid transfer protein	341					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGATGGTGGTGCCAGAGGGCT	0.627																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1081-1083)ggC>ggA		phospholipid transfer protein							60.0	54.0	56.0					20																	44531163		2203	4300	6503	SO:0001819	synonymous_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44531163G>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1023C>A	20.37:g.44531163G>T						PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000477313.1_Silent_p.G341G|PLTP_ENST00000420868.2_Silent_p.G246G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000372431.3_Silent_p.G341G	p.G361G			P55058	PLTP_HUMAN			10	1617	-		Myeloproliferative disorder(115;0.0122)	341					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.1083C>A	CCDS13386.1																																																																																				0.627	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		49	140	1	0	1.62263e-30	1	1.84963e-30	49	140				
MAP1B	4131	broad.mit.edu	37	5	71495925	71495925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:71495925C>T	ENST00000296755.7	+	5	7041	c.6743C>T	c.(6742-6744)cCa>cTa	p.P2248L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2248					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAAAAGCCAGGTACAAAG	0.488																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6742-6744)cCa>cTa		microtubule-associated protein 1B							104.0	107.0	106.0					5																	71495925		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495925C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6743C>T	5.37:g.71495925C>T	ENSP00000296755:p.Pro2248Leu						p.P2248L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	7041	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2248					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6743C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782718	0.31502	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	6.03	6.03	0.97812	.	0.087376	0.50627	D	0.000112	T	0.03695	0.0105	L	0.38175	1.15	0.51012	D	0.999902	P;B	0.35551	0.509;0.01	B;B	0.30495	0.116;0.005	T	0.43327	-0.9398	10	0.62326	D	0.03	-11.8486	9.2493	0.37545	0.2148:0.7154:0.0:0.0698	.	2122;2248	A2BDK6;P46821	.;MAP1B_HUMAN	L	2248	ENSP00000296755:P2248L	ENSP00000296755:P2248L	P	+	2	0	MAP1B	71531681	0.847000	0.29606	0.999000	0.59377	0.985000	0.73830	1.394000	0.34509	2.861000	0.98227	0.655000	0.94253	CCA		0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		5	692	0	0	0	1	0	5	692				
EHD3	30845	broad.mit.edu	37	2	31484438	31484438	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:31484438T>C	ENST00000322054.5	+	5	1224	c.939T>C	c.(937-939)tcT>tcC	p.S313S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	313					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATCAGCTCTCTGAAGAAGG	0.562																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(937-939)tcT>tcC		EH-domain containing 3							139.0	126.0	130.0					2																	31484438		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484438T>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.939T>C	2.37:g.31484438T>C						EHD3_ENST00000541626.1_Intron	p.S313S	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1224	+	Acute lymphoblastic leukemia(172;0.155)		313					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.939T>C	CCDS1774.1																																																																																				0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		115	580	0	0	0	1	0	115	580				
XIRP2	129446	broad.mit.edu	37	2	168106925	168106925	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:168106925T>A	ENST00000409195.1	+	9	9112	c.9023T>A	c.(9022-9024)gTa>gAa	p.V3008E	XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2833					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGAAAAAGTAAAAGAAGAA	0.333																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9022-9024)gTa>gAa		xin actin-binding repeat containing 2							65.0	65.0	65.0					2																	168106925		1833	4069	5902	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106925T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9023T>A	2.37:g.168106925T>A	ENSP00000386840:p.Val3008Glu					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2786E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3008E	p.V3008E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9112	+			2833					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9023T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281317	0.59758	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02787	4.16;4.16;4.16	5.88	5.88	0.94601	.	0.362772	0.30940	N	0.008572	T	0.04861	0.0131	L	0.44542	1.39	0.35161	D	0.770687	P;P;P	0.49559	0.877;0.925;0.925	B;P;P	0.44990	0.276;0.466;0.466	T	0.53767	-0.8392	10	0.27082	T	0.32	-1.0103	15.2773	0.73750	0.0:0.0:0.0:1.0	.	2833;2833;2786	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3008;3008;2786;422	ENSP00000386840:V3008E;ENSP00000295237:V3008E;ENSP00000387255:V2786E	ENSP00000295237:V3008E	V	+	2	0	XIRP2	167815171	0.973000	0.33851	0.981000	0.43875	0.919000	0.55068	4.106000	0.57804	2.253000	0.74438	0.455000	0.32223	GTA		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	122	0	0	0	1	0	5	122				
GULP1	51454	broad.mit.edu	37	2	189458666	189458666	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:189458666G>A	ENST00000409580.1	+	13	1557		c.e13-1		GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CTGTTTTACAGGAGGGGTTCA	0.338																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.e13-1		GULP, engulfment adaptor PTB domain containing 1							89.0	92.0	91.0					2																	189458666		2203	4300	6503	SO:0001630	splice_region_variant	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189458666G>A	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.844-1G>A	2.37:g.189458666G>A						GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site				Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		13	1557	+								B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Splice_Site	SNP	ENST00000409580.1	37		CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400570	0.83120	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609;ENST00000433052	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7667	0.91876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GULP1	189166911	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	.		0.338	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315	Intron	17	62	0	0	0	1	0	17	62				
PRKDC	5591	broad.mit.edu	37	8	48690437	48690437	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:48690437T>A	ENST00000523565.1	-	84	11909		c.e84-2		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						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)	TGGCAGAAACTAAACAAGAAA	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.e85-2	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							53.0	53.0	53.0					8																	48690437		1956	4161	6117	SO:0001630	splice_region_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.chr8:48690437T>A		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		ENST00000523565.1:c.1600-2A>T	8.37:g.48690437T>A						PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site		NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			85	11907	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)						P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37			.	.	.	.	.	.	.	.	.	.	T	13.12	2.143044	0.37825	.	.	ENSG00000253729	ENST00000314191;ENST00000338368;ENST00000536429	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7616	0.78087	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48852990	1.000000	0.71417	0.992000	0.48379	0.084000	0.17831	7.575000	0.82447	2.121000	0.65114	0.533000	0.62120	.		0.423	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron	5	45	0	0	0	1	0	5	45				
FAM180A	389558	broad.mit.edu	37	7	135419056	135419056	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:135419056G>A	ENST00000338588.3	-	3	454	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FAM180A_ENST00000415751.1_Silent_p.A63A|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	63						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCTCAAGTTCGGCCAGCAGGA	0.532																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(187-189)gcC>gcT		family with sequence similarity 180, member A							54.0	54.0	54.0					7																	135419056		2203	4300	6503	SO:0001819	synonymous_variant	389558					extracellular region		g.chr7:135419056G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.189C>T	7.37:g.135419056G>A						FAM180A_ENST00000415751.1_Silent_p.A63A	p.A63A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	454	-			63					B2RP85	Silent	SNP	ENST00000338588.3	37	c.189C>T	CCDS5841.1																																																																																				0.532	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		5	477	0	0	0	1	0	5	477				
GOLIM4	27333	broad.mit.edu	37	3	167750471	167750471	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:167750471T>G	ENST00000470487.1	-	9	1702	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	338	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTTCTGTGCTCCTCTTCCAC	0.552																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1012-1014)gAg>gCg		golgi integral membrane protein 4							176.0	164.0	168.0					3																	167750471		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750471T>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1013A>C	3.37:g.167750471T>G	ENSP00000417354:p.Glu338Ala					GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	p.E338A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			9	1702	-			338			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1013A>C	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453888	0.84209	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.24	5.24	0.73138	.	0.094831	0.64402	D	0.000001	T	0.71771	0.3379	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.63046	0.984;0.992	P;P	0.57152	0.701;0.814	T	0.69892	-0.5022	9	0.12103	T	0.63	-21.2002	14.832	0.70156	0.0:0.0:0.0:1.0	.	310;338	F8W785;O00461	.;GOLI4_HUMAN	A	338;310	.	ENSP00000309893:E310A	E	-	2	0	GOLIM4	169233165	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.365000	0.66116	1.993000	0.58246	0.449000	0.29647	GAG		0.552	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			219	95	0	0	0	1	0	219	95				
CENPE	1062	broad.mit.edu	37	4	104098121	104098121	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:104098121A>T	ENST00000265148.3	-	14	1414	c.1325T>A	c.(1324-1326)aTa>aAa	p.I442K	CENPE_ENST00000380026.3_Missense_Mutation_p.I442K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	442					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTGTTGGTATATTAAATTG	0.284																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(1324-1326)aTa>aAa		centromere protein E, 312kDa							92.0	89.0	90.0					4																	104098121		2200	4286	6486	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104098121A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1325T>A	4.37:g.104098121A>T	ENSP00000265148:p.Ile442Lys					CENPE_ENST00000380026.3_Missense_Mutation_p.I442K	p.I442K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	14	1414	-			442					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.1325T>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562234	0.27915	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.54071	0.59;0.59;0.59	5.4	1.18	0.20946	.	.	.	.	.	T	0.32194	0.0821	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.11329	0.006;0.004	T	0.16719	-1.0393	9	0.21540	T	0.41	.	3.0846	0.06273	0.5346:0.2607:0.078:0.1267	.	442;442	Q02224-3;Q02224	.;CENPE_HUMAN	K	442	ENSP00000265148:I442K;ENSP00000369365:I442K;ENSP00000423981:I442K	ENSP00000265148:I442K	I	-	2	0	CENPE	104317570	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.276000	0.18716	0.843000	0.35070	0.533000	0.62120	ATA		0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	22	0	0	0	1	0	3	22				
CPOX	1371	broad.mit.edu	37	3	98307628	98307628	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:98307628G>A	ENST00000264193.2	-	4	1100	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	294			V -> I (in dbSNP:rs2228056). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7849704, ECO:0000269|Ref.3}.		heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGTGAAAATGGACAGCGTCTT	0.433																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(880-882)gtC>gtT		coproporphyrinogen oxidase							120.0	109.0	113.0					3																	98307628		2203	4300	6503	SO:0001819	synonymous_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98307628G>A	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.882C>T	3.37:g.98307628G>A							p.V294V	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			4	1100	-			294		V -> I (in dbSNP:rs2228056).			A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Silent	SNP	ENST00000264193.2	37	c.882C>T	CCDS2932.1																																																																																				0.433	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		7	57	0	0	0	1	0	7	57				
ITIH2	3698	broad.mit.edu	37	10	7786826	7786826	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:7786826A>T	ENST00000358415.4	+	19	2647	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	827					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTGTTTTACTTCATCGTG	0.418																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2479-2481)ttA>ttT		inter-alpha-trypsin inhibitor heavy chain 2							152.0	141.0	145.0					10																	7786826		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786826A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2481A>T	10.37:g.7786826A>T	ENSP00000351190:p.Leu827Phe					ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	p.L827F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			19	2647	+			827					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2481A>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666846	0.67814	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.16743	2.32;2.32	5.79	0.193	0.15139	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.37598	0.1009	M	0.86028	2.79	0.48236	D	0.999614	D	0.67145	0.996	D	0.70935	0.971	T	0.13098	-1.0522	10	0.87932	D	0	-8.9701	6.583	0.22605	0.3904:0.0:0.4775:0.1321	.	827	P19823	ITIH2_HUMAN	F	827;816	ENSP00000351190:L827F;ENSP00000368906:L816F	ENSP00000351190:L827F	L	+	3	2	ITIH2	7826832	0.997000	0.39634	0.965000	0.40720	0.859000	0.49053	0.372000	0.20467	0.022000	0.15160	0.482000	0.46254	TTA		0.418	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		4	112	0	0	0	1	0	4	112				
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(973-975)agT>agA		carboxypeptidase B2 (plasma)							163.0	157.0	159.0					13																	46632338		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632338A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.975T>A	13.37:g.46632338A>T	ENSP00000181383:p.Ser325Arg					CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.S325R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	991	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	325				Cleavage; by thrombin.	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.975T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	7.261	0.605207	0.14002	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11821	2.74;2.74	5.86	5.02	0.67125	Peptidase M14, carboxypeptidase A (2);	0.353337	0.40144	N	0.001172	T	0.09512	0.0234	N	0.25485	0.75	0.35046	D	0.760221	B;B	0.26708	0.157;0.149	B;B	0.22880	0.038;0.042	T	0.24119	-1.0169	10	0.27785	T	0.31	.	10.0135	0.42001	0.0723:0.1365:0.7911:0.0	.	288;325	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	R	325;288	ENSP00000181383:S325R;ENSP00000400714:S288R	ENSP00000181383:S325R	S	-	3	2	CPB2	45530339	0.017000	0.18338	0.998000	0.56505	0.183000	0.23260	0.024000	0.13555	1.487000	0.48415	-0.146000	0.13790	AGT		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		9	321	0	0	0	1	0	9	321				
B9D1	27077	broad.mit.edu	37	17	19250621	19250621	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:19250621A>C	ENST00000261499.4	-	5	508	c.365T>G	c.(364-366)tTt>tGt	p.F122C	MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C|B9D1_ENST00000477478.2_Missense_Mutation_p.L98V|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C|B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	122	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCTGGGACAAACATGGGGAT	0.463																																						ENST00000477478.2																			0				large_intestine(3)|urinary_tract(1)	4						c.(292-294)Ttg>Gtg		B9 protein domain 1							135.0	121.0	126.0					17																	19250621		2203	4300	6503	SO:0001583	missense	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19250621A>C	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.365T>G	17.37:g.19250621A>C	ENSP00000261499:p.Phe122Cys					B9D1_ENST00000261499.4_Missense_Mutation_p.F122C|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C|B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C	p.L98V			Q9UPM9	B9D1_HUMAN			5	625	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		0			B9.		Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.292T>G	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474337	0.84640	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89717	0.3916	10	0.66056	D	0.02	.	13.3685	0.60698	1.0:0.0:0.0:0.0	.	122	Q9UPM9	B9D1_HUMAN	C	122;122;122;122;113	ENSP00000378977:F122C;ENSP00000261499:F122C;ENSP00000378978:F122C;ENSP00000268841:F122C;ENSP00000410835:F113C	ENSP00000261499:F122C	F	-	2	0	B9D1	19191214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.986000	0.88173	2.197000	0.70478	0.533000	0.62120	TTT		0.463	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		23	210	0	0	0	1	0	23	210				
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T	rs539491304		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000369543.2_Silent_p.T545T|TRIM33_ENST00000450349.2_Silent_p.T153T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1633-1635)acT>acA		tripartite motif containing 33							329.0	310.0	316.0					1																	114968131		2203	4300	6503	SO:0001819	synonymous_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968131A>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1635T>A	1.37:g.114968131A>T						TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1718	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	545			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.1635T>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	A	1.505	-0.551091	0.03996	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	-7.91	0.01165	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.28657	N	0.906343	.	.	.	.	.	.	T	0.22765	-1.0207	4	.	.	.	-1.6547	0.3179	0.00298	0.3705:0.158:0.215:0.2564	.	.	.	.	Q	282	.	.	L	-	2	0	TRIM33	114769654	0.345000	0.24835	0.755000	0.31263	0.205000	0.24178	-0.705000	0.05052	-1.148000	0.02847	-1.721000	0.00707	CTA		0.428	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		7	492	0	0	0	1	0	7	492				
FLG2	388698	broad.mit.edu	37	1	152325874	152325874	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152325874C>T	ENST00000388718.5	-	3	4460	c.4388G>A	c.(4387-4389)gGg>gAg	p.G1463E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1463					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGTCTCCCATGAACTGT	0.498																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4387-4389)gGg>gAg		filaggrin family member 2							432.0	384.0	400.0					1																	152325874		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325874C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4388G>A	1.37:g.152325874C>T	ENSP00000373370:p.Gly1463Glu					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1463E	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4460	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1463					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4388G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	6.382	0.438516	0.12104	.	.	ENSG00000143520	ENST00000388718	T	0.03717	3.83	2.97	-3.01	0.05463	.	.	.	.	.	T	0.00496	0.0016	N	0.11131	0.1	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.47611	-0.9104	9	0.30078	T	0.28	-5.231	0.5758	0.00703	0.1747:0.3138:0.1714:0.34	.	1463	Q5D862	FILA2_HUMAN	E	1463	ENSP00000373370:G1463E	ENSP00000373370:G1463E	G	-	2	0	FLG2	150592498	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.079000	0.11357	-0.630000	0.05567	-0.749000	0.03505	GGG		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		13	1509	0	0	0	1	0	13	1509				
ZNF223	7766	broad.mit.edu	37	19	44571310	44571310	+	Silent	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:44571310T>A	ENST00000434772.3	+	5	1584	c.1329T>A	c.(1327-1329)cgT>cgA	p.R443R	ZNF223_ENST00000591793.1_Silent_p.R553R	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GGTCATACCGTAAAGACCAAC	0.393																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1657-1659)cgT>cgA		zinc finger protein 223							82.0	84.0	83.0					19																	44571310		2203	4300	6503	SO:0001819	synonymous_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571310T>A	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1329T>A	19.37:g.44571310T>A						ZNF223_ENST00000434772.3_Silent_p.R443R	p.R553R			Q9UK11	ZN223_HUMAN			7	1742	+		Prostate(69;0.0352)	443					Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	c.1659T>A	CCDS12635.1																																																																																				0.393	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			5	220	0	0	0	1	0	5	220				
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:53644453C>A	ENST00000334197.7	-	5	1696	c.1628G>T	c.(1627-1629)tGt>tTt	p.C543F	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.C544F|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1630-1632)tGt>tTt		zinc finger protein 347							154.0	150.0	152.0					19																	53644453		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644453C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1628G>T	19.37:g.53644453C>A	ENSP00000334146:p.Cys543Phe					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543F	p.C544F	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2057	-			543					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1631G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991879	0.54041	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85088	-1.94;-1.94	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94391	0.8196	H	0.97023	3.925	0.40464	D	0.98027	D;D	0.89917	0.998;1.0	P;D	0.76071	0.799;0.987	D	0.96051	0.9031	9	0.87932	D	0	.	13.2379	0.59979	0.0:1.0:0.0:0.0	.	544;543	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	543;544	ENSP00000334146:C543F;ENSP00000405218:C544F	ENSP00000334146:C543F	C	-	2	0	ZNF347	58336265	0.995000	0.38212	0.006000	0.13384	0.018000	0.09664	3.807000	0.55591	1.700000	0.51204	0.655000	0.94253	TGT		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		145	253	1	0	3.29649e-51	1	3.81699e-51	145	253				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		9	71	0	0	0	1	0	9	71				
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein						calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCCTGAAAACTAAAGTAAAAG	0.453																																						ENST00000262713.2																			0											c.e4-2		ajuba LIM protein							139.0	148.0	145.0					14																	23445729		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445729T>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1177-2A>T	14.37:g.23445729T>A						AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site		NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			4	1552	-								A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589107	0.66105	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6896	0.62537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JUB	22515569	1.000000	0.71417	0.925000	0.36789	0.783000	0.44284	7.311000	0.78958	2.126000	0.65437	0.482000	0.46254	.		0.453	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Intron	9	321	0	0	0	1	0	9	321				
RSL1D1	26156	broad.mit.edu	37	16	11933633	11933633	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:11933633A>T	ENST00000571133.1	-	8	1137	c.1065T>A	c.(1063-1065)gtT>gtA	p.V355V	RSL1D1_ENST00000542106.1_Silent_p.V135V	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	355					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTGTTGCTTTAACTTGGGCTT	0.408																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(1063-1065)gtT>gtA		ribosomal L1 domain containing 1							321.0	276.0	291.0					16																	11933633		2197	4300	6497	SO:0001819	synonymous_variant	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11933633A>T	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1065T>A	16.37:g.11933633A>T						RSL1D1_ENST00000542106.1_Silent_p.V135V	p.V355V	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			8	1137	-			355					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Silent	SNP	ENST00000571133.1	37	c.1065T>A	CCDS10551.1																																																																																				0.408	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		7	401	0	0	0	1	0	7	401				
DOCK4	9732	broad.mit.edu	37	7	111580247	111580247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:111580247G>A	ENST00000437633.1	-	11	1151	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.R299*|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	299					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCAAAGGGTCGTCGGTACTGG	0.443																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(895-897)Cga>Tga		dedicator of cytokinesis 4							189.0	196.0	194.0					7																	111580247		1972	4143	6115	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111580247G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.895C>T	7.37:g.111580247G>A	ENSP00000404179:p.Arg299*					DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R299*|DOCK4_ENST00000476846.1_5'UTR	p.R299*			Q8N1I0	DOCK4_HUMAN			11	1167	-		Acute lymphoblastic leukemia(1;0.0441)	299					O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.895C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464867	0.97590	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.	.	.	6.06	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9257	0.52819	0.0:0.1107:0.4317:0.4576	.	.	.	.	X	287;299;299;287;298	.	ENSP00000345432:R287X	R	-	1	2	DOCK4	111367483	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	2.915000	0.48805	0.100000	0.17581	0.655000	0.94253	CGA		0.443	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	774	0	0	0	1	0	6	774				
DPEP2	64174	broad.mit.edu	37	16	68021768	68021768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:68021768C>A	ENST00000572888.1	-	9	1843	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DPEP2_ENST00000412757.2_Missense_Mutation_p.R398I|DPEP2_ENST00000393847.1_Missense_Mutation_p.R398I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	398					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCCACTTGTCTGAAGACCCG	0.567																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1192-1194)aGa>aTa		dipeptidase 2							124.0	126.0	125.0					16																	68021768		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021768C>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1193G>T	16.37:g.68021768C>A	ENSP00000458977:p.Arg398Ile					DPEP2_ENST00000393847.1_Missense_Mutation_p.R398I|DPEP2_ENST00000572888.1_Missense_Mutation_p.R398I	p.R398I			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	11	1858	-		Ovarian(137;0.192)	398					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.1193G>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072790	0.36566	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.26067	1.76;1.76	5.47	2.11	0.27256	.	0.973377	0.08495	N	0.937302	T	0.50582	0.1624	H	0.94306	3.52	0.09310	N	0.999999	B;B	0.25850	0.136;0.112	B;B	0.41764	0.366;0.251	T	0.54268	-0.8319	10	0.72032	D	0.01	4.8258	7.581	0.27965	0.0:0.6582:0.0:0.3418	.	398;311	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	I	398;398;311	ENSP00000377430:R398I;ENSP00000412549:R398I	ENSP00000314702:R311I	R	-	2	0	DPEP2	66579269	0.000000	0.05858	0.002000	0.10522	0.522000	0.34438	0.149000	0.16243	0.687000	0.31509	0.563000	0.77884	AGA		0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		18	747	1	0	5.35267e-07	1	5.77248e-07	18	747				
UQCRFS1	7386	broad.mit.edu	37	19	29698751	29698751	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:29698751G>A	ENST00000304863.4	-	2	951	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	177					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GTTCTATGACGCACAAACAGG	0.453																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(529-531)Cgt>Tgt		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							115.0	121.0	119.0					19																	29698751		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698751G>A	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.529C>T	19.37:g.29698751G>A	ENSP00000306397:p.Arg177Cys						p.R177C	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	Lung(7;0.092)		2	951	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		177					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.529C>T	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720384	0.68959	.	.	ENSG00000169021	ENST00000304863	T	0.51071	0.72	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.093553	0.85682	D	0.000000	T	0.79736	0.4497	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.86812	0.1999	10	0.87932	D	0	.	18.2067	0.89857	0.0:0.0:1.0:0.0	.	177	P47985	UCRI_HUMAN	C	177	ENSP00000306397:R177C	ENSP00000306397:R177C	R	-	1	0	UQCRFS1	34390591	1.000000	0.71417	0.989000	0.46669	0.523000	0.34469	6.388000	0.73195	2.540000	0.85666	0.462000	0.41574	CGT		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		5	424	0	0	0	1	0	5	424				
NSUN2	54888	broad.mit.edu	37	5	6605421	6605421	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:6605421G>A	ENST00000264670.6	-	15	2013	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W|NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	568					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGCACATTCCGCAACTCCTTA	0.478																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1702-1704)Cgg>Tgg		NOP2/Sun RNA methyltransferase family, member 2							198.0	194.0	195.0					5																	6605421		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605421G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1702C>T	5.37:g.6605421G>A	ENSP00000264670:p.Arg568Trp					NSUN2_ENST00000506139.1_Missense_Mutation_p.R533W|NSUN2_ENST00000539938.1_Missense_Mutation_p.R332W	p.R568W	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			15	2013	-			568					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1702C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186816	0.57909	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.65549	-0.16;-0.16;-0.16	5.36	-4.21	0.03812	.	0.047192	0.85682	D	0.000000	T	0.80396	0.4615	M	0.88377	2.95	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.977;0.997	D	0.84366	0.0541	10	0.87932	D	0	-35.1638	19.9151	0.97057	0.0:0.0:0.3569:0.6431	.	533;568	B4DQW2;Q08J23	.;NSUN2_HUMAN	W	568;332;533	ENSP00000264670:R568W;ENSP00000444338:R332W;ENSP00000420957:R533W	ENSP00000264670:R568W	R	-	1	2	NSUN2	6658421	0.723000	0.28027	0.073000	0.20177	0.463000	0.32649	0.158000	0.16422	-0.617000	0.05664	-0.311000	0.09066	CGG		0.478	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		5	486	0	0	0	1	0	5	486				
SSRP1	6749	broad.mit.edu	37	11	57097569	57097569	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57097569C>T	ENST00000278412.2	-	12	1745	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	493	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACTCACTCCTCTGCCACAT	0.498																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1477-1479)gaG>gaA		structure specific recognition protein 1							208.0	177.0	188.0					11																	57097569		2201	4296	6497	SO:0001819	synonymous_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57097569C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1479G>A	11.37:g.57097569C>T							p.E493E	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			12	1745	-			493			Asp/Glu-rich (acidic).		Q5BJG8	Silent	SNP	ENST00000278412.2	37	c.1479G>A	CCDS7952.1																																																																																				0.498	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		19	100	0	0	0	1	0	19	100				
UTRN	7402	broad.mit.edu	37	6	144780343	144780343	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:144780343A>G	ENST00000367545.3	+	20	2560	c.2560A>G	c.(2560-2562)Aaa>Gaa	p.K854E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	854	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTTCACCCCAAAATTGAAAT	0.502																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2560-2562)Aaa>Gaa		utrophin							71.0	66.0	68.0					6																	144780343		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780343A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2560A>G	6.37:g.144780343A>G	ENSP00000356515:p.Lys854Glu						p.K854E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	20	2560	+		Ovarian(120;0.218)	854			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2560A>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	9.109	1.006103	0.19199	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.34859	1.34	5.44	4.25	0.50352	.	0.867765	0.09920	N	0.738635	T	0.09949	0.0244	N	0.14661	0.345	0.38034	D	0.935269	B	0.21309	0.054	B	0.18263	0.021	T	0.12344	-1.0551	10	0.17832	T	0.49	.	10.7699	0.46316	0.6118:0.3882:0.0:0.0	.	854	P46939	UTRO_HUMAN	E	854	ENSP00000356515:K854E	ENSP00000356499:K854E	K	+	1	0	UTRN	144822036	0.010000	0.17322	0.069000	0.20011	0.090000	0.18270	1.390000	0.34464	2.197000	0.70478	0.528000	0.53228	AAA		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			18	35	0	0	0	1	0	18	35				
CCDC112	153733	broad.mit.edu	37	5	114607212	114607212	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:114607212G>T	ENST00000512261.1	-	8	1197	c.781C>A	c.(781-783)Caa>Aaa	p.Q261K	CCDC112_ENST00000395557.4_Missense_Mutation_p.Q261K|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q344K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	261										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ttttgcttttgattatcctct	0.338																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1030-1032)Caa>Aaa		coiled-coil domain containing 112							157.0	145.0	149.0					5																	114607212		2201	4300	6501	SO:0001583	missense	153733							g.chr5:114607212G>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.781C>A	5.37:g.114607212G>T	ENSP00000423712:p.Gln261Lys					CCDC112_ENST00000506442.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000512261.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q261K	p.Q344K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1317	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	261					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1030C>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259162	0.39896	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.22945	1.93;2.28;2.26;2.28	6.03	5.14	0.70334	.	0.453195	0.25971	N	0.027125	T	0.28234	0.0697	L	0.56769	1.78	0.25198	N	0.990077	B;B;B	0.31548	0.328;0.328;0.328	B;B;B	0.34242	0.178;0.178;0.178	T	0.20907	-1.0261	10	0.11485	T	0.65	-3.3333	16.8498	0.85991	0.0:0.1286:0.8714:0.0	.	261;344;261	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	344;261;261;261	ENSP00000368931:Q344K;ENSP00000423712:Q261K;ENSP00000424876:Q261K;ENSP00000378925:Q261K	ENSP00000368931:Q344K	Q	-	1	0	CCDC112	114635111	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.145000	0.64839	1.518000	0.48934	0.655000	0.94253	CAA		0.338	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		4	76	1	0	2.56e-06	1	2.74732e-06	4	76				
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000452095.2_Intron|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e4-1		transcription factor 12							118.0	121.0	120.0					15																	57355946		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355946A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.149-1A>T	15.37:g.57355946A>T						TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Splice_Site		NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	452	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37		CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.877044	0.51801	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9021	0.63812	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55143238	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	5.768000	0.68858	2.213000	0.71641	0.477000	0.44152	.		0.363	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	7	167	0	0	0	1	0	7	167				
STARD7	56910	broad.mit.edu	37	2	96861119	96861119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:96861119C>T	ENST00000337288.5	-	2	842	c.459G>A	c.(457-459)tgG>tgA	p.W153*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	153	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TTGGGCGCCGCCACAGCTTAA	0.498																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(457-459)tgG>tgA		StAR-related lipid transfer (START) domain containing 7							112.0	87.0	95.0					2																	96861119		2203	4300	6503	SO:0001587	stop_gained	56910					mitochondrion		g.chr2:96861119C>T	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.459G>A	2.37:g.96861119C>T	ENSP00000338030:p.Trp153*					STARD7_ENST00000462501.1_5'UTR	p.W153*	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN			2	842	-			153			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Nonsense_Mutation	SNP	ENST00000337288.5	37	c.459G>A	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	39	7.870970	0.98537	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4484	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	153;52	.	ENSP00000338030:W153X	W	-	3	0	STARD7	96224846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.206000	0.72154	2.885000	0.99019	0.655000	0.94253	TGG		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			4	24	0	0	0	1	0	4	24				
TTN	7273	broad.mit.edu	37	2	179398587	179398587	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:179398587C>T	ENST00000591111.1	-	308	98056	c.97832G>A	c.(97831-97833)aGa>aAa	p.R32611K	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34252K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25379K|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31684K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25312K|TTN_ENST00000460472.2_Missense_Mutation_p.R25187K|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32611					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGAGTCTCATTGTGTC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(102754-102756)aGa>aAa		titin							79.0	74.0	75.0					2																	179398587		1889	4103	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398587C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97832G>A	2.37:g.179398587C>T	ENSP00000465570:p.Arg32611Lys					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25187K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31684K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32611K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25312K|TTN_ENST00000342175.6_Missense_Mutation_p.R25379K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA	p.R34252K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102979	-			32611					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.102755G>A		.	.	.	.	.	.	.	.	.	.	C	12.21	1.869417	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.21;0.2;0.19	5.6	5.6	0.85130	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45034	0.1322	N	0.08118	0	0.42305	D	0.992194	B;B;B;B	0.32071	0.214;0.214;0.214;0.355	B;B;B;B	0.24974	0.031;0.031;0.031;0.057	T	0.52245	-0.8601	9	0.87932	D	0	.	19.2083	0.93744	0.0:1.0:0.0:0.0	.	25187;25312;25379;32611	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31684;25187;25379;25312;25184	ENSP00000343764:R31684K;ENSP00000434586:R25187K;ENSP00000340554:R25379K;ENSP00000352154:R25312K	ENSP00000340554:R25379K	R	-	2	0	TTN	179106833	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.815000	0.48018	2.641000	0.89580	0.491000	0.48974	AGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	146	0	0	0	1	0	8	146				
HFM1	164045	broad.mit.edu	37	1	91818686	91818686	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:91818686A>G	ENST00000370425.3	-	15	1851	c.1753T>C	c.(1753-1755)Tat>Cat	p.Y585H	HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H|HFM1_ENST00000462405.1_5'Flank|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	585	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCATGATGATAAGCAGCACCA	0.328																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1753-1755)Tat>Cat		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							90.0	82.0	85.0					1																	91818686		1821	4078	5899	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818686A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1753T>C	1.37:g.91818686A>G	ENSP00000359454:p.Tyr585His					HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H|HFM1_ENST00000294696.5_5'UTR	p.Y585H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1851	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	585			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1753T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395686	0.83011	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.57273	0.41;0.41	5.93	5.93	0.95920	Helicase, C-terminal (3);	0.000000	0.38720	U	0.001583	T	0.63522	0.2518	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.66520	-0.5903	10	0.59425	D	0.04	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	264;585	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	585;264;269;618	ENSP00000359454:Y585H;ENSP00000359453:Y264H	ENSP00000359450:Y269H	Y	-	1	0	HFM1	91591274	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.877000	0.92386	2.263000	0.75096	0.533000	0.62120	TAT		0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		12	40	0	0	0	1	0	12	40				
CCDC181	57821	broad.mit.edu	37	1	169391451	169391451	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:169391451T>C	ENST00000367806.3	-	3	370	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	CCDC181_ENST00000545005.1_Missense_Mutation_p.Q73R|CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	73						nucleus (GO:0005634)											GACCTCATCCTGCAAAGATTT	0.398																																						ENST00000545005.1																			0											c.(217-219)cAg>cGg		coiled-coil domain containing 181							95.0	86.0	89.0					1																	169391451		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391451T>C	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.218A>G	1.37:g.169391451T>C	ENSP00000356780:p.Gln73Arg					CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.Q73R	p.Q73R							4	725	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.218A>G		.	.	.	.	.	.	.	.	.	.	T	3.438	-0.114660	0.06881	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.27	4.14	0.48551	.	0.498747	0.22337	N	0.061391	T	0.05318	0.0141	N	0.22421	0.69	0.22552	N	0.998992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16041	-1.0416	9	0.54805	T	0.06	-6.1116	7.8629	0.29520	0.0:0.1619:0.0:0.8381	.	73;73;73	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	R	73	ENSP00000356779:Q73R;ENSP00000356780:Q73R;ENSP00000442297:Q73R;ENSP00000411000:Q73R	ENSP00000356779:Q73R	Q	-	2	0	C1orf114	167658075	0.989000	0.36119	0.816000	0.32577	0.006000	0.05464	1.349000	0.33998	0.843000	0.35070	0.460000	0.39030	CAG		0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		3	214	0	0	0	1	0	3	214				
HRC	3270	broad.mit.edu	37	19	49657184	49657184	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:49657184C>T	ENST00000252825.4	-	1	1497	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	HRC_ENST00000595625.1_Silent_p.Q437Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	437					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCTGGGGGCCTGGTGGCCAA	0.552																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1309-1311)caG>caA		histidine rich calcium binding protein							98.0	91.0	93.0					19																	49657184		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657184C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1311G>A	19.37:g.49657184C>T						HRC_ENST00000595625.1_Silent_p.Q437Q	p.Q437Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1497	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	437					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1311G>A	CCDS12759.1																																																																																				0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		5	211	0	0	0	1	0	5	211				
TMPRSS12	283471	broad.mit.edu	37	12	51281283	51281283	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:51281283T>A	ENST00000398458.3	+	5	1066	c.1034T>A	c.(1033-1035)cTa>cAa	p.L345Q	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	345						integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTCATCTTACTAGCAACAACA	0.338																																						ENST00000398458.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(1033-1035)cTa>cAa		transmembrane (C-terminal) protease, serine 12							117.0	119.0	118.0					12																	51281283		1834	4080	5914	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51281283T>A	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.1034T>A	12.37:g.51281283T>A	ENSP00000381476:p.Leu345Gln					TMPRSS12_ENST00000551456.1_3'UTR	p.L345Q	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN			5	1066	+			345					B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.1034T>A	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.048617	0.55110	.	.	ENSG00000186452	ENST00000398458	D	0.90261	-2.64	4.74	4.74	0.60224	.	0.791326	0.10714	N	0.642534	D	0.89602	0.6762	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81134	-0.1071	10	0.87932	D	0	-2.3273	10.5482	0.45072	0.0:0.0:0.0:1.0	.	345	Q86WS5	TMPSC_HUMAN	Q	345	ENSP00000381476:L345Q	ENSP00000381476:L345Q	L	+	2	0	TMPRSS12	49567550	0.438000	0.25602	0.015000	0.15790	0.149000	0.21700	1.314000	0.33597	1.983000	0.57843	0.377000	0.23210	CTA		0.338	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		5	145	0	0	0	1	0	5	145				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.e3-2		related RAS viral (r-ras) oncogene homolog 2							81.0	85.0	84.0					11																	14316410		2200	4294	6494	SO:0001630	splice_region_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316410T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.197-2A>T	11.37:g.14316410T>A						RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site		NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-								B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37		CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814905	0.70912	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7521	0.69533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14272986	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.503000	0.81632	2.031000	0.59945	0.482000	0.46254	.		0.398	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	15	188	0	0	0	1	0	15	188				
OSBPL1A	114876	broad.mit.edu	37	18	21739723	21739723	+	IGR	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:21739723C>A	ENST00000319481.3	-	0	4195				CABYR_ENST00000415309.2_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Missense_Mutation_p.P179T|CABYR_ENST00000399496.3_Missense_Mutation_p.P277T|CABYR_ENST00000399499.1_Missense_Mutation_p.P277T|CABYR_ENST00000581397.1_Missense_Mutation_p.P277T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458																																						ENST00000399496.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(829-831)Cct>Act		calcium binding tyrosine-(Y)-phosphorylation regulated							89.0	89.0	89.0					18																	21739723		2203	4300	6503	SO:0001628	intergenic_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21739723C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739723C>A						RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Missense_Mutation_p.P277T|CABYR_ENST00000399499.1_Missense_Mutation_p.P277T|CABYR_ENST00000327201.6_Missense_Mutation_p.P179T|CABYR_ENST00000415309.2_Intron	p.P277T	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN			5	994	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		0					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.829C>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245847	0.59103	.	.	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.62105	0.05;0.05	4.85	4.85	0.62838	.	.	.	.	.	T	0.67552	0.2905	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.70842	-0.4762	9	0.87932	D	0	.	11.6838	0.51474	0.0:0.9145:0.0:0.0855	.	277	O75952-3	.	T	277;179;277	ENSP00000382419:P277T;ENSP00000382421:P277T	ENSP00000317095:P179T	P	+	1	0	CABYR	19993721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.595000	0.36708	2.227000	0.72691	0.563000	0.77884	CCT		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		32	484	1	0	0.000279167	1	0.000293159	32	484				
GAK	2580	broad.mit.edu	37	4	898459	898459	+	Missense_Mutation	SNP	C	C	T	rs146710139		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:898459C>T	ENST00000314167.4	-	5	601	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	GAK_ENST00000511163.1_Missense_Mutation_p.R85Q	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	164	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CGGCTTCTGCCGGTGCATGTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19855	0.0		0.001	False		,,,				2504	0.0					ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(490-492)cGg>cAg		cyclin G associated kinase		C	GLN/ARG	0,4406		0,0,2203	53.0	53.0	53.0		491	-0.4	0.7	4	dbSNP_134	53	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GAK	NM_005255.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	164/1312	898459	4,13002	2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:898459C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.491G>A	4.37:g.898459C>T	ENSP00000314499:p.Arg164Gln					GAK_ENST00000511163.1_Missense_Mutation_p.R85Q	p.R164Q	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	5	601	-			164			Protein kinase.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.491G>A	CCDS3340.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.05	1.822054	0.32237	0.0	4.65E-4	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.20069	2.1;2.1	4.31	-0.397	0.12423	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.275476	0.38837	N	0.001556	T	0.06416	0.0165	N	0.04063	-0.285	0.22412	N	0.999126	B;B;P	0.36392	0.065;0.127;0.551	B;B;B	0.24848	0.031;0.013;0.056	T	0.38134	-0.9675	10	0.26408	T	0.33	-7.5396	8.6023	0.33751	0.0:0.1738:0.0:0.8262	.	85;164;60	E9PGR2;O14976;Q59HA5	.;GAK_HUMAN;.	Q	164;85	ENSP00000314499:R164Q;ENSP00000421361:R85Q	ENSP00000314499:R164Q	R	-	2	0	GAK	888459	0.998000	0.40836	0.680000	0.29994	0.136000	0.21042	1.153000	0.31676	-0.379000	0.07906	-0.390000	0.06520	CGG		0.602	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		4	73	0	0	0	1	0	4	73				
ACSS2	55902	broad.mit.edu	37	20	33513922	33513922	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:33513922A>G	ENST00000360596.2	+	16	1952	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	ACSS2_ENST00000336325.4_Missense_Mutation_p.T531A|ACSS2_ENST00000253382.5_Missense_Mutation_p.T594A|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	581					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGCTGAGTACAGCAGAGGT	0.577																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1741-1743)Aca>Gca		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						117.0	96.0	103.0					20																	33513922		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33513922A>G	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1741A>G	20.37:g.33513922A>G	ENSP00000353804:p.Thr581Ala					ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.T531A|ACSS2_ENST00000253382.5_Missense_Mutation_p.T594A	p.T581A	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			16	1952	+			581					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1741A>G	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210072	0.79240	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.50548	0.74;2.82;2.82	4.99	4.99	0.66335	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.971	T	0.78427	-0.2208	10	0.87932	D	0	-13.687	14.9129	0.70773	1.0:0.0:0.0:0.0	.	594;581	Q5QPH3;Q9NR19	.;ACSA_HUMAN	A	531;581;579;289;594	ENSP00000337190:T531A;ENSP00000353804:T581A;ENSP00000253382:T594A	ENSP00000253382:T594A	T	+	1	0	ACSS2	32977583	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.071000	0.93980	2.119000	0.64992	0.456000	0.33151	ACA		0.577	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		4	613	0	0	0	1	0	4	613				
HSP90AB1	3326	broad.mit.edu	37	6	44218220	44218220	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:44218220G>A	ENST00000371554.1	+	6	1055	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	281					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGATCAGGAAGAACTAAACAA	0.423																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(841-843)Gaa>Aaa		heat shock protein 90kDa alpha (cytosolic), class B member 1							80.0	77.0	78.0					6																	44218220		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44218220G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.841G>A	6.37:g.44218220G>A	ENSP00000360609:p.Glu281Lys					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K	p.E281K			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1055	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		281					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.841G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072379	0.76415	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.10005	2.92;2.92;2.92	4.41	4.41	0.53225	ATPase-like, ATP-binding domain (1);	0.000000	0.64402	U	0.000002	T	0.16599	0.0399	M	0.78344	2.41	0.80722	D	1	P;P;B	0.50369	0.934;0.616;0.359	P;B;B	0.50049	0.629;0.444;0.261	T	0.03060	-1.1077	10	0.72032	D	0.01	-17.0994	17.0182	0.86425	0.0:0.0:1.0:0.0	.	243;271;281	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	K	281	ENSP00000360709:E281K;ENSP00000325875:E281K;ENSP00000360609:E281K	ENSP00000325875:E281K	E	+	1	0	HSP90AB1	44326198	1.000000	0.71417	0.881000	0.34555	0.748000	0.42578	9.773000	0.98989	2.018000	0.59344	0.460000	0.39030	GAA		0.423	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		52	103	0	0	0	1	0	52	103				
SMC3	9126	broad.mit.edu	37	10	112335137	112335137	+	Silent	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:112335137A>G	ENST00000361804.4	+	4	300	c.174A>G	c.(172-174)ccA>ccG	p.P58P	snoU13_ENST00000458966.1_RNA|SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	58					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATCTTCGTCCAGAACAGCGGT	0.299																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(172-174)ccA>ccG		structural maintenance of chromosomes 3							138.0	133.0	135.0					10																	112335137		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335137A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.174A>G	10.37:g.112335137A>G						SMC3_ENST00000462899.1_3'UTR	p.P58P	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	300	+		Breast(234;0.0848)|Lung NSC(174;0.238)	58					A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.174A>G	CCDS31285.1																																																																																				0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		8	14	0	0	0	1	0	8	14				
STAT2	6773	broad.mit.edu	37	12	56742758	56742758	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56742758C>T	ENST00000314128.4	-	17	1549	c.1526G>A	c.(1525-1527)gGc>gAc	p.G509D	STAT2_ENST00000557235.1_Missense_Mutation_p.G505D|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	509					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGGCCTCGGCCAACATAGGA	0.562																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1525-1527)gGc>gAc		signal transducer and activator of transcription 2, 113kDa							74.0	74.0	74.0					12																	56742758		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742758C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1526G>A	12.37:g.56742758C>T	ENSP00000315768:p.Gly509Asp					STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.G505D	p.G509D			P52630	STAT2_HUMAN			17	1549	-			509					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1526G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096317	0.36952	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337	D;D	0.88201	-2.35;-2.35	4.89	-0.229	0.13094	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.697586	0.14051	N	0.344775	D	0.89684	0.6786	M	0.80616	2.505	0.09310	N	1	B;P	0.40000	0.162;0.698	B;P	0.45276	0.135;0.475	T	0.82619	-0.0368	10	0.62326	D	0.03	-1.7748	10.0929	0.42458	0.0:0.5505:0.0:0.4495	.	505;509	G3V2M6;P52630	.;STAT2_HUMAN	D	509;505;311	ENSP00000315768:G509D;ENSP00000450751:G505D	ENSP00000315768:G509D	G	-	2	0	STAT2	55029025	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.102000	0.10956	-0.145000	0.11294	0.563000	0.77884	GGC		0.562	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		5	369	0	0	0	1	0	5	369				
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.e25-1		importin 11							124.0	119.0	121.0					5																	61846192		2203	4299	6502	SO:0001630	splice_region_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61846192A>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2251-1A>T	5.37:g.61846192A>T						IPO11_ENST00000409296.3_Splice_Site		NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	25	2419	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)						A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Splice_Site	SNP	ENST00000325324.6	37		CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273101	0.80580	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553;ENST00000511713	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1999	0.73126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO11	61881949	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.268000	0.89876	2.088000	0.63022	0.528000	0.53228	.		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	Intron	4	69	0	0	0	1	0	4	69				
IFNLR1	163702	broad.mit.edu	37	1	24485612	24485612	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:24485612G>T	ENST00000327535.1	-	6	743	c.731C>A	c.(730-732)gCa>gAa	p.A244E	IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374421.3_Missense_Mutation_p.A244E|IFNLR1_ENST00000374419.1_Missense_Mutation_p.A161E	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	244					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CACACCCCCTGCGGCAATTAC	0.527																																						ENST00000327535.1																			0											c.(730-732)gCa>gAa		interferon, lambda receptor 1							68.0	68.0	68.0					1																	24485612		2203	4300	6503	SO:0001583	missense	163702							g.chr1:24485612G>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.731C>A	1.37:g.24485612G>T	ENSP00000327824:p.Ala244Glu					IFNLR1_ENST00000374421.3_Missense_Mutation_p.A244E|IFNLR1_ENST00000374419.1_Missense_Mutation_p.A161E|IFNLR1_ENST00000327575.2_Intron	p.A244E	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					6	743	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.731C>A	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301083	0.40694	.	.	ENSG00000185436	ENST00000327535;ENST00000374421;ENST00000374419	.	.	.	5.56	-8.28	0.01013	.	1.741270	0.02457	N	0.086150	T	0.35624	0.0938	N	0.24115	0.695	0.09310	N	1	B;B	0.31125	0.309;0.231	B;B	0.27715	0.081;0.082	T	0.30592	-0.9973	9	0.51188	T	0.08	3.96	18.4824	0.90817	0.8585:0.0:0.1415:0.0	.	244;244	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	E	244;244;161	.	ENSP00000327824:A244E	A	-	2	0	IL28RA	24358199	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.019000	0.03622	-1.664000	0.01479	-0.258000	0.10820	GCA		0.527	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		5	197	1	0	0.000602214	1	0.000627901	5	197				
VWF	7450	broad.mit.edu	37	12	6220099	6220099	+	Missense_Mutation	SNP	C	C	T	rs140044866	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6220099C>T	ENST00000261405.5	-	4	510	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	VWF_ENST00000572068.1_Missense_Mutation_p.V123M	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	86	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAAGATACACGGAGAGGCTC	0.408																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(256-258)Gtg>Atg		von Willebrand factor	Antihemophilic Factor(DB00025)	C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	142.0	136.0	138.0		256	5.2	1.0	12	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense	VWF	NM_000552.3	21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	86/2814	6220099	3,13003	2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6220099C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.256G>A	12.37:g.6220099C>T	ENSP00000261405:p.Val86Met					VWF_ENST00000572068.1_Missense_Mutation_p.V123M	p.V86M	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			4	510	-			86			VWFD 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.256G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158206	0.57368	4.54E-4	1.16E-4	ENSG00000110799	ENST00000261405	T	0.65732	-0.17	5.19	5.19	0.71726	von Willebrand factor, type D domain (3);	0.000000	0.33457	N	0.004892	T	0.79776	0.4504	M	0.86740	2.835	0.42692	D	0.993585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.82368	-0.0492	10	0.72032	D	0.01	.	10.3038	0.43667	0.1497:0.7055:0.1448:0.0	.	86;123;86	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	M	86	ENSP00000261405:V86M	ENSP00000261405:V86M	V	-	1	0	VWF	6090360	0.310000	0.24527	0.998000	0.56505	0.843000	0.47879	0.244000	0.18124	2.706000	0.92434	0.561000	0.74099	GTG		0.408	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	398	0	0	0	1	0	4	398				
WIPI2	26100	broad.mit.edu	37	7	5270558	5270558	+	Missense_Mutation	SNP	A	A	G	rs144773383		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5270558A>G	ENST00000288828.4	+	13	1577	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V|WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V|WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	449					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCACCCGCCCATGATTCTTCG	0.597																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(1345-1347)Atg>Gtg		WD repeat domain, phosphoinositide interacting 2							67.0	56.0	60.0					7																	5270558		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5270558A>G		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1345A>G	7.37:g.5270558A>G	ENSP00000288828:p.Met449Val					WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V|WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V	p.M449V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	13	1577	+		Ovarian(82;0.0175)	449					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.1345A>G	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763976	0.15914	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.39229	1.39;1.4;1.39;1.41;1.09	5.95	5.95	0.96441	.	0.050364	0.85682	D	0.000000	T	0.24392	0.0591	N	0.13098	0.295	0.41443	D	0.987937	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.11767	-1.0574	10	0.02654	T	1	-47.6617	14.9948	0.71421	1.0:0.0:0.0:0.0	.	432;420;431;438;449	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	V	449;431;438;420;379;432	ENSP00000288828:M449V;ENSP00000384945:M431V;ENSP00000385297:M438V;ENSP00000371821:M420V;ENSP00000429654:M379V	ENSP00000288828:M449V	M	+	1	0	WIPI2	5237084	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.046000	0.64226	2.279000	0.76181	0.533000	0.62120	ATG		0.597	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		35	82	0	0	0	1	0	35	82				
PIK3C2G	5288	broad.mit.edu	37	12	18435372	18435372	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:18435372T>A	ENST00000266497.5	+	1	395	c.357T>A	c.(355-357)aaT>aaA	p.N119K	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N119K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	119					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACCTCAAAATACGAATAAAG	0.403																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(355-357)aaT>aaA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							74.0	74.0	74.0					12																	18435372		1836	4082	5918	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435372T>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.357T>A	12.37:g.18435372T>A	ENSP00000266497:p.Asn119Lys					PIK3C2G_ENST00000266497.5_Missense_Mutation_p.N119K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N119K|RERGL_ENST00000541632.1_Intron	p.N119K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			2	473	+		Hepatocellular(102;0.194)	119					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.357T>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	7.965	0.747836	0.15710	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.59772	1.58;0.24;0.24;0.24	4.7	-4.54	0.03452	.	2.421410	0.02130	N	0.056283	T	0.36771	0.0979	L	0.27053	0.805	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.18561	0.022;0.01	T	0.15723	-1.0427	10	0.09590	T	0.72	0.6115	6.0044	0.19539	0.0:0.2486:0.267:0.4844	.	119;119	F5H369;O75747	.;P3C2G_HUMAN	K	119	ENSP00000443850:N119K;ENSP00000404845:N119K;ENSP00000266497:N119K;ENSP00000445381:N119K	ENSP00000266497:N119K	N	+	3	2	PIK3C2G	18326639	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.310000	0.08135	-0.873000	0.04032	0.482000	0.46254	AAT		0.403	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		5	178	0	0	0	1	0	5	178				
SEPT12	124404	broad.mit.edu	37	16	4833698	4833698	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4833698G>T	ENST00000268231.8	-	6	845	c.582C>A	c.(580-582)gcC>gcA	p.A194A	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Silent_p.A148A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	194	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGTCGGCCCTGGCAATCACGG	0.687																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(580-582)gcC>gcA		septin 12							45.0	49.0	47.0					16																	4833698		2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833698G>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.582C>A	16.37:g.4833698G>T						SEPT12_ENST00000396693.5_Silent_p.A148A	p.A194A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			6	845	-			194					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.582C>A	CCDS10522.1																																																																																				0.687	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		6	119	1	0	0.00621372	1	0.00640289	6	119				
ZNF781	163115	broad.mit.edu	37	19	38160704	38160704	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:38160704G>A	ENST00000590008.1	-	5	1198	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.P116S|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTTATAAGGTTTCTCACCA	0.378																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(346-348)Cct>Tct		zinc finger protein 781							124.0	122.0	123.0					19																	38160704		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160704G>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.346C>T	19.37:g.38160704G>A	ENSP00000466370:p.Pro116Ser					ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.P116S	p.P116S	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1094	-			116					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.346C>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025858	0.54683	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.28454	1.61	2.23	1.16	0.20824	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46054	0.1373	L	0.55481	1.735	0.23893	N	0.996545	D	0.89917	1.0	D	0.85130	0.997	T	0.15435	-1.0437	9	0.72032	D	0.01	.	8.1914	0.31370	0.1489:0.0:0.8511:0.0	.	116	Q8N8C0	ZN781_HUMAN	S	116	ENSP00000351391:P116S	ENSP00000351391:P116S	P	-	1	0	ZNF781	42852544	1.000000	0.71417	0.020000	0.16555	0.013000	0.08279	4.869000	0.63028	1.218000	0.43458	0.543000	0.68304	CCT		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		25	342	0	0	0	1	0	25	342				
VPS52	6293	broad.mit.edu	37	6	33235518	33235518	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:33235518T>A	ENST00000445902.2	-	10	1152		c.e10-2		VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000482399.1_Splice_Site	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTCATACTAAGGAAAGAG	0.473																																						ENST00000482399.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.e9-2		vacuolar protein sorting 52 homolog (S. cerevisiae)							237.0	250.0	245.0					6																	33235518		1511	2709	4220	SO:0001630	splice_region_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235518T>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.934-2A>T	6.37:g.33235518T>A						VPS52_ENST00000445902.2_Splice_Site|VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000478934.1_Intron				Q8N1B4	VPS52_HUMAN			9	1530	-								A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Splice_Site	SNP	ENST00000445902.2	37		CCDS4770.2	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473735	0.63737	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4855	0.55871	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS52	33343496	1.000000	0.71417	0.941000	0.38009	0.845000	0.48019	6.085000	0.71343	2.273000	0.75805	0.523000	0.50628	.		0.473	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	Intron	7	370	0	0	0	1	0	7	370				
RGPD8	727851	broad.mit.edu	37	2	113147073	113147073	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:113147073A>T	ENST00000302558.3	-	20	3640	c.3449T>A	c.(3448-3450)tTt>tAt	p.F1150Y	RGPD8_ENST00000409750.1_Missense_Mutation_p.F1010Y	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1150	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGTTTTAAATTTTGCTGC	0.453																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3448-3450)tTt>tAt		RANBP2-like and GRIP domain containing 8							11.0	10.0	11.0					2																	113147073		687	1575	2262	SO:0001583	missense	727851							g.chr2:113147073A>T	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3449T>A	2.37:g.113147073A>T	ENSP00000306637:p.Phe1150Tyr					RGPD8_ENST00000409750.1_Missense_Mutation_p.F1010Y	p.F1150Y	NM_001164463.1	NP_001157935.1					20	3640	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.3449T>A	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	11.57	1.676696	0.29783	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.56941	0.43;0.43	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.76062	0.3935	H	0.94925	3.6	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	T	0.78455	-0.2197	9	0.87932	D	0	-25.9267	8.205	0.31449	1.0:0.0:0.0:0.0	.	1150	O14715	RGPD8_HUMAN	Y	1150;1010	ENSP00000306637:F1150Y;ENSP00000386511:F1010Y	ENSP00000306637:F1150Y	F	-	2	0	RGPD8	112863544	1.000000	0.71417	0.999000	0.59377	0.563000	0.35712	9.020000	0.93667	1.068000	0.40764	0.128000	0.15822	TTT		0.453	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		5	161	0	0	0	1	0	5	161				
SF3B1	23451	broad.mit.edu	37	2	198265662	198265662	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:198265662T>A	ENST00000335508.6	-	18	2588		c.e18-2		SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAACTAACTAAAAAGAACA	0.338			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.e18-2		splicing factor 3b, subunit 1, 155kDa							49.0	49.0	49.0					2																	198265662		2201	4299	6500	SO:0001630	splice_region_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265662T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2497-2A>T	2.37:g.198265662T>A								NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2588	-								E9PCH3	Splice_Site	SNP	ENST00000335508.6	37		CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367229	0.82463	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF3B1	197973907	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.936000	0.87665	2.326000	0.78906	0.533000	0.62120	.		0.338	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		Intron	6	42	0	0	0	1	0	6	42				
PHF12	57649	broad.mit.edu	37	17	27250942	27250942	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27250942T>C	ENST00000332830.4	-	4	1510	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	PHF12_ENST00000582655.1_5'UTR|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.T234A|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A|RP11-20B24.5_ENST00000580782.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGTGCAGTGGTACAAGTCAGT	0.562																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(700-702)Acc>Gcc		PHD finger protein 12							52.0	49.0	50.0					17																	27250942		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27250942T>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.700A>G	17.37:g.27250942T>C	ENSP00000329933:p.Thr234Ala					PHF12_ENST00000332830.4_Missense_Mutation_p.T234A|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A|PHF12_ENST00000582655.1_5'UTR	p.T234A			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		4	1046	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		234			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.700A>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371357	0.82573	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94576	-3.44;-3.46;-3.46	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	L	0.53249	1.67	0.80722	D	1	P;P;D;D;P	0.67145	0.93;0.919;0.972;0.996;0.93	P;P;P;D;P	0.65140	0.676;0.699;0.69;0.932;0.676	D	0.93794	0.7095	10	0.17369	T	0.5	-9.5897	15.3307	0.74208	0.0:0.0:0.0:1.0	.	216;234;234;234;234	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	A	234	ENSP00000329933:T234A;ENSP00000368157:T234A;ENSP00000268756:T234A	ENSP00000268756:T234A	T	-	1	0	PHF12	24275068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.298000	0.77334	0.528000	0.53228	ACC		0.562	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		32	39	0	0	0	1	0	32	39				
PLXNC1	10154	broad.mit.edu	37	12	94637785	94637785	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:94637785T>A	ENST00000258526.4	+	12	2621	c.2372T>A	c.(2371-2373)tTa>tAa	p.L791*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	791					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACATGAATTAAAAGGAAAC	0.328																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2371-2373)tTa>tAa		plexin C1							106.0	100.0	102.0					12																	94637785		2202	4300	6502	SO:0001587	stop_gained	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94637785T>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2372T>A	12.37:g.94637785T>A	ENSP00000258526:p.Leu791*						p.L791*	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			12	2621	+			791					Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.2372T>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	41	8.784681	0.98952	.	.	ENSG00000136040	ENST00000258526	.	.	.	5.56	1.89	0.25635	.	1.020180	0.07824	N	0.960217	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	4.1288	0.10139	0.175:0.2433:0.0:0.5817	.	.	.	.	X	791	.	ENSP00000258526:L791X	L	+	2	0	PLXNC1	93161916	0.000000	0.05858	0.125000	0.21846	0.976000	0.68499	-0.026000	0.12392	0.484000	0.27630	0.482000	0.46254	TTA		0.328	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			5	108	0	0	0	1	0	5	108				
GPR65	8477	broad.mit.edu	37	14	88477819	88477819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:88477819G>A	ENST00000267549.3	+	2	1186	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	210					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTACCAAGCTGTGCGGCACAA	0.423																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(628-630)Gtg>Atg		G protein-coupled receptor 65							59.0	58.0	59.0					14																	88477819		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477819G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.628G>A	14.37:g.88477819G>A	ENSP00000267549:p.Val210Met					RP11-300J18.2_ENST00000554433.1_RNA	p.V210M	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	1186	+			210					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.628G>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441428	0.83993	.	.	ENSG00000140030	ENST00000267549	T	0.40756	1.02	6.16	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.129596	0.34580	N	0.003849	T	0.67757	0.2927	M	0.84948	2.725	0.47276	D	0.999371	D	0.89917	1.0	D	0.79108	0.992	T	0.71748	-0.4499	10	0.87932	D	0	.	14.9931	0.71406	0.0674:0.0:0.9326:0.0	.	210	Q8IYL9	PSYR_HUMAN	M	210	ENSP00000267549:V210M	ENSP00000267549:V210M	V	+	1	0	GPR65	87547572	1.000000	0.71417	0.987000	0.45799	0.860000	0.49131	4.527000	0.60573	2.937000	0.99478	0.650000	0.86243	GTG		0.423	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			15	109	0	0	0	1	0	15	109				
KCNU1	157855	broad.mit.edu	37	8	36766970	36766970	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:36766970G>A	ENST00000399881.3	+	21	2285	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	750					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAGCTGAAGGACATAGTGTT	0.463																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2248-2250)Gac>Aac		potassium channel, subfamily U, member 1							171.0	169.0	170.0					8																	36766970		1881	4102	5983	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766970G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2248G>A	8.37:g.36766970G>A	ENSP00000382770:p.Asp750Asn						p.D750N	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2285	+			750						Missense_Mutation	SNP	ENST00000399881.3	37	c.2248G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426375	0.62733	.	.	ENSG00000215262	ENST00000399881	T	0.42131	0.98	5.8	5.8	0.92144	.	0.263650	0.24742	U	0.035965	T	0.57961	0.2089	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.56343	0.796	T	0.57248	-0.7844	10	0.46703	T	0.11	-14.7559	15.181	0.72960	0.0:0.1406:0.8594:0.0	.	750	A8MYU2	KCNU1_HUMAN	N	750	ENSP00000382770:D750N	ENSP00000382770:D750N	D	+	1	0	KCNU1	36886128	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.381000	0.52455	2.745000	0.94114	0.655000	0.94253	GAC		0.463	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		41	494	0	0	0	1	0	41	494				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe						p.L32F	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		11	431	0	0	0	1	0	11	431				
TIE1	7075	broad.mit.edu	37	1	43782915	43782915	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:43782915A>C	ENST00000372476.3	+	15	2534	c.2455A>C	c.(2455-2457)Acc>Ccc	p.T819P	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.T464P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	819					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTGACACTTACCCGGCGGCC	0.612																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2455-2457)Acc>Ccc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							67.0	64.0	65.0					1																	43782915		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43782915A>C	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2455A>C	1.37:g.43782915A>C	ENSP00000361554:p.Thr819Pro					TIE1_ENST00000433781.2_Missense_Mutation_p.T464P|TIE1_ENST00000473014.1_3'UTR	p.T819P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			15	2534	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	819					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2455A>C	CCDS482.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971978	0.74246	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.75938	-0.94;-0.98	5.1	5.1	0.69264	.	0.000000	0.39341	N	0.001384	T	0.78387	0.4275	L	0.38175	1.15	0.54753	D	0.999988	D;D;D	0.65815	0.981;0.981;0.995	P;P;P	0.61592	0.77;0.77;0.891	T	0.79497	-0.1779	10	0.49607	T	0.09	.	14.8868	0.70575	1.0:0.0:0.0:0.0	.	774;464;819	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	P	819;222;102;464	ENSP00000361554:T819P;ENSP00000411728:T464P	ENSP00000361553:T222P	T	+	1	0	TIE1	43555502	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	7.007000	0.76335	1.914000	0.55421	0.528000	0.53228	ACC		0.612	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	199	0	0	0	1	0	6	199				
FGF6	2251	broad.mit.edu	37	12	4543521	4543521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:4543521G>T	ENST00000228837.2	-	3	530	c.487C>A	c.(487-489)Ctc>Atc	p.L163I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	163					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|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)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGGGCAGGAGGGTTTCTCTG	0.522																																						ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(487-489)Ctc>Atc		fibroblast growth factor 6							221.0	205.0	211.0					12																	4543521		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4543521G>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.487C>A	12.37:g.4543521G>T	ENSP00000228837:p.Leu163Ile						p.L163I	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		3	530	-			163					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.487C>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793444	0.31685	.	.	ENSG00000111241	ENST00000228837	D	0.81499	-1.5	4.99	4.08	0.47627	.	0.133667	0.50627	N	0.000115	T	0.72724	0.3496	L	0.49126	1.545	0.47862	D	0.999533	B	0.12630	0.006	B	0.28849	0.095	T	0.64351	-0.6428	10	0.29301	T	0.29	.	4.5892	0.12299	0.0871:0.1526:0.603:0.1573	.	163	P10767	FGF6_HUMAN	I	163	ENSP00000228837:L163I	ENSP00000228837:L163I	L	-	1	0	FGF6	4413782	0.952000	0.32445	1.000000	0.80357	0.990000	0.78478	0.765000	0.26546	1.038000	0.40049	0.655000	0.94253	CTC		0.522	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		4	485	1	0	1.23904e-05	1	1.32004e-05	4	485				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T						SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site		NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	5	281	0	0	0	1	0	5	281				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	13	454	0	0	0	1	0	13	454				
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e20-1		kinesin family member 15							81.0	81.0	81.0					3																	44856401		2203	4300	6503	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856401A>T	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2384-1A>T	3.37:g.44856401A>T						KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2532	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884123	0.72410	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4799	0.75517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44831405	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.323000	0.79105	2.200000	0.70718	0.482000	0.46254	.		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	9	81	0	0	0	1	0	9	81				
UMODL1	89766	broad.mit.edu	37	21	43523851	43523851	+	Intron	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:43523851C>T	ENST00000408910.2	+	9	1299				C21orf128_ENST00000329015.2_Missense_Mutation_p.D128N|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron|UMODL1_ENST00000408989.2_Intron	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTCGGTCGTCAGGTGCCTCC	0.582																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000329015.2																			0				lung(4)	4						c.(382-384)Gac>Aac		chromosome 21 open reading frame 128							117.0	113.0	114.0					21																	43523851		692	1591	2283	SO:0001627	intron_variant	150147							g.chr21:43523851C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1300-127C>T	21.37:g.43523851C>T						UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron	p.D128N							2	533	-								C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.382G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551055	0.27739	.	.	ENSG00000184385	ENST00000329015	T	0.55930	0.49	2.76	-3.6	0.04570	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	8	0.87932	D	0	.	4.3483	0.11143	0.0:0.4323:0.2028:0.3649	.	128	Q8N2C9	CU128_HUMAN	N	128	ENSP00000328495:D128N	ENSP00000328495:D128N	D	-	1	0	C21orf128	42396920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.630000	0.05502	-0.715000	0.04968	-1.170000	0.01741	GAC		0.582	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			3	7	0	0	0	1	0	3	7				
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2488-2490)gaA>gaG		zinc finger protein 208							66.0	72.0	70.0					19																	22155346		2117	4255	6372	SO:0001819	synonymous_variant	7757							g.chr19:22155346T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2490A>G	19.37:g.22155346T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.E830E	NM_007153.3	NP_009084.2					4	2638	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2490A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	97	0	0	0	1	0	3	97				
ANKRD20A8P	729171	broad.mit.edu	37	2	95497757	95497757	+	RNA	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:95497757C>G	ENST00000432432.2	-	0	1086					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTCACCTTCTCCTTGTCCATT	0.473																																						ENST00000432432.2																			0																																																			729171							g.chr2:95497757C>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95497757C>G								NR_040113.1						0	1086	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.473	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			159	197	0	0	0	1	0	159	197				
MRPL1	65008	broad.mit.edu	37	4	78873727	78873727	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:78873727T>A	ENST00000315567.8	+	9	1273	c.944T>A	c.(943-945)gTa>gAa	p.V315E		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	315					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CCTAAAGAAGTAAAAAATGAA	0.348																																						ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(943-945)gTa>gAa		mitochondrial ribosomal protein L1							129.0	124.0	126.0					4																	78873727		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78873727T>A	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.944T>A	4.37:g.78873727T>A	ENSP00000315017:p.Val315Glu						p.V315E	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			9	1273	+			315					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.944T>A	CCDS3583.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.014|0.014|0.014	-1.586097|-1.586097|-1.586097	0.00872|0.00872|0.00872	.|.|.	.|.|.	ENSG00000169288|ENSG00000169288|ENSG00000169288	ENST00000538314|ENST00000315567|ENST00000504901	.|T|.	.|0.30182|.	.|1.54|.	5.85|5.85|5.85	-3.37|-3.37|-3.37	0.04898|0.04898|0.04898	.|.|.	.|1.587550|.	.|0.03399|.	.|N|.	.|0.202996|.	.|T|.	.|0.16385|.	.|0.0394|.	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.22412|0.22412|0.22412	N|N|N	0.999121|0.999121|0.999121	.|B|.	.|0.02656|.	.|0.0|.	.|B|.	.|0.01281|.	.|0.0|.	.|T|.	.|0.25813|.	.|-1.0121|.	.|10|.	.|0.18276|.	.|T|.	.|0.48|.	.|-0.3753|-0.3753	0.415|0.415|0.415	0.00447|0.00447|0.00447	0.2614:0.1442:0.2413:0.353|0.2614:0.1442:0.2413:0.353|0.2614:0.1442:0.2413:0.353	.|.|.	.|315|.	.|Q9BYD6|.	.|RM01_HUMAN|.	.|E|K	-1|315|109	.|ENSP00000315017:V315E|.	.|ENSP00000315017:V315E|.	.|V|X	+|+|+	.|2|1	.|0|0	MRPL1|MRPL1|MRPL1	79092751|79092751|79092751	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.272000|0.272000|0.272000	0.24630|0.24630|0.24630	0.097000|0.097000|0.097000	0.18754|0.18754|0.18754	-1.134000|-1.134000|-1.134000	0.03228|0.03228|0.03228	-0.390000|-0.390000|-0.390000	0.07774|0.07774|0.07774	-0.299000|-0.299000|-0.299000	0.09455|0.09455|0.09455	.|GTA|TAA		0.348	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		4	57	0	0	0	1	0	4	57				
WDFY1	57590	broad.mit.edu	37	2	224744951	224744951	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:224744951T>A	ENST00000233055.4	-	11	1167		c.e11-2		WDFY1_ENST00000462702.1_5'Flank	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1							cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GAAGTCCGACTAACAAGAGAA	0.443																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.e11-2		WD repeat and FYVE domain containing 1							99.0	94.0	96.0					2																	224744951		2203	4300	6503	SO:0001630	splice_region_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224744951T>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1065-2A>T	2.37:g.224744951T>A								NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	11	1167	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)						Q53S17|Q9H9D5|Q9P2B3	Splice_Site	SNP	ENST00000233055.4	37		CCDS33387.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362791	0.82353	.	.	ENSG00000085449	ENST00000233055	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY1	224453195	1.000000	0.71417	0.994000	0.49952	0.879000	0.50718	7.426000	0.80270	2.160000	0.67779	0.528000	0.53228	.		0.443	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	Intron	8	349	0	0	0	1	0	8	349				
PIGZ	80235	broad.mit.edu	37	3	196678778	196678778	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:196678778C>A	ENST00000412723.1	-	2	271	c.125G>T	c.(124-126)aGc>aTc	p.S42I	PIGZ_ENST00000443835.1_Missense_Mutation_p.S42I	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	42					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TCGGAGCAGGCTGAGACCACC	0.567																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(124-126)aGc>aTc		phosphatidylinositol glycan anchor biosynthesis, class Z							134.0	112.0	119.0					3																	196678778		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678778C>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.125G>T	3.37:g.196678778C>A	ENSP00000413405:p.Ser42Ile					PIGZ_ENST00000443835.1_Missense_Mutation_p.S42I	p.S42I	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	271	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		42					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.125G>T	CCDS3324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.64|11.64	1.697910|1.697910	0.30142|0.30142	.|.	.|.	ENSG00000119227|ENSG00000119227	ENST00000413127|ENST00000412723;ENST00000443835	.|T	.|0.11604	.|2.76	4.69|4.69	3.8|3.8	0.43715|0.43715	.|.	.|0.791331	.|0.11546	.|N	.|0.553283	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.25825|0.25825	0.765|0.765	0.26572|0.26572	N|N	0.973539|0.973539	.|B	.|0.22146	.|0.065	.|B	.|0.22880	.|0.042	T|T	0.34700|0.34700	-0.9818|-0.9818	5|10	.|0.22706	.|T	.|0.39	-2.1608|-2.1608	9.7721|9.7721	0.40595|0.40595	0.1576:0.69:0.1525:0.0|0.1576:0.69:0.1525:0.0	.|.	.|42	.|Q86VD9	.|PIGZ_HUMAN	H|I	8|42	.|ENSP00000413405:S42I	.|ENSP00000413405:S42I	Q|S	-|-	3|2	2|0	PIGZ|PIGZ	198163175|198163175	0.946000|0.946000	0.32159|0.32159	0.852000|0.852000	0.33557|0.33557	0.615000|0.615000	0.37417|0.37417	1.822000|1.822000	0.39052|0.39052	1.085000|1.085000	0.41206|0.41206	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.567	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		3	79	1	0	0.004672	1	0.00482554	3	79				
TCHHL1	126637	broad.mit.edu	37	1	152059571	152059571	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152059571A>T	ENST00000368806.1	-	3	651	c.587T>A	c.(586-588)aTa>aAa	p.I196K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	196							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTTGTTTGTATATCTTGAGC	0.433																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(586-588)aTa>aAa		trichohyalin-like 1							160.0	143.0	149.0					1																	152059571		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059571A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.587T>A	1.37:g.152059571A>T	ENSP00000357796:p.Ile196Lys						p.I196K	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	651	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		196					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.587T>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.023684	0.35701	.	.	ENSG00000182898	ENST00000368806	T	0.24908	1.83	5.39	1.72	0.24424	.	1.945960	0.02837	N	0.127486	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.20955	0.032	T	0.21008	-1.0258	10	0.06099	T	0.92	0.0919	4.3175	0.11000	0.648:0.1714:0.1806:0.0	.	196	Q5QJ38	TCHL1_HUMAN	K	196	ENSP00000357796:I196K	ENSP00000357796:I196K	I	-	2	0	TCHHL1	150326195	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.181000	0.16880	0.035000	0.15519	0.460000	0.39030	ATA		0.433	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		5	283	0	0	0	1	0	5	283				
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:133948799A>T	ENST00000370784.4	+	2	516		c.e2-1		FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000445123.1_Splice_Site	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338																																						ENST00000445123.1																			0				endometrium(2)|kidney(1)|lung(2)	5						c.e3-1		family with sequence similarity 122C							60.0	60.0	60.0					X																	133948799		2202	4300	6502	SO:0001630	splice_region_variant	159091							g.chrX:133948799A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.111-1A>T	X.37:g.133948799A>T						FAM122C_ENST00000370784.4_Splice_Site|FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site				Q6P4D5	F222C_HUMAN			3	274	+	Acute lymphoblastic leukemia(192;0.000127)							F5H036|Q8WVK9	Splice_Site	SNP	ENST00000370784.4	37		CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	10.31	1.313542	0.23908	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7226	0.46048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM122C	133776465	1.000000	0.71417	0.663000	0.29738	0.151000	0.21798	4.668000	0.61568	1.800000	0.52685	0.466000	0.42574	.		0.338	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819	Intron	4	85	0	0	0	1	0	4	85				
ITPR2	3709	broad.mit.edu	37	12	26774093	26774093	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:26774093C>T	ENST00000381340.3	-	26	3841	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1142					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTGACTTTCCCCTATTTCTCC	0.408																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3424-3426)gGg>gAg		inositol 1,4,5-trisphosphate receptor, type 2							378.0	357.0	363.0					12																	26774093		1895	4129	6024	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26774093C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3425G>A	12.37:g.26774093C>T	ENSP00000370744:p.Gly1142Glu						p.G1142E	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			26	3841	-	Colorectal(261;0.0847)		1142					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3425G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259827	0.23051	.	.	ENSG00000123104	ENST00000381340	D	0.91464	-2.85	4.82	3.93	0.45458	.	0.466841	0.24384	N	0.038991	D	0.82706	0.5095	L	0.44542	1.39	0.23720	N	0.997023	B	0.02656	0.0	B	0.08055	0.003	T	0.63242	-0.6681	10	0.02654	T	1	.	8.8225	0.35034	0.0:0.7707:0.15:0.0793	.	1142	Q14571	ITPR2_HUMAN	E	1142	ENSP00000370744:G1142E	ENSP00000370744:G1142E	G	-	2	0	ITPR2	26665360	0.158000	0.22850	0.590000	0.28732	0.719000	0.41307	2.544000	0.45761	1.252000	0.44001	0.650000	0.86243	GGG		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	842	0	0	0	1	0	6	842				
ZNF280A	129025	broad.mit.edu	37	22	22869587	22869587	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:22869587G>T	ENST00000302097.3	-	2	620	c.368C>A	c.(367-369)cCt>cAt	p.P123H	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTATAACCAGGTTCAGATGA	0.483																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(367-369)cCt>cAt		zinc finger protein 280A							87.0	83.0	84.0					22																	22869587		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869587G>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.368C>A	22.37:g.22869587G>T	ENSP00000302855:p.Pro123His						p.P123H	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	620	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	123						Missense_Mutation	SNP	ENST00000302097.3	37	c.368C>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329626	0.24167	.	.	ENSG00000169548	ENST00000302097	T	0.26810	1.71	3.62	-1.29	0.09288	.	.	.	.	.	T	0.19327	0.0464	L	0.49778	1.585	0.09310	N	1	B	0.20671	0.047	B	0.22880	0.042	T	0.37478	-0.9704	9	0.87932	D	0	3.2572	1.8591	0.03185	0.1082:0.1766:0.3537:0.3615	.	123	P59817	Z280A_HUMAN	H	123	ENSP00000302855:P123H	ENSP00000302855:P123H	P	-	2	0	ZNF280A	21199587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.481000	0.22260	-0.127000	0.11661	0.650000	0.86243	CCT		0.483	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		5	276	1	0	0.184627	1	0.18547	5	276				
UNC45B	146862	broad.mit.edu	37	17	33495211	33495211	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:33495211C>T	ENST00000268876.5	+	10	1380	c.1283C>T	c.(1282-1284)gCa>gTa	p.A428V	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.A428V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A428V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A428V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A428V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGATGGTGGCACTATGTGGC	0.592																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1282-1284)gCa>gTa		unc-45 homolog B (C. elegans)							125.0	92.0	103.0					17																	33495211		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495211C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1283C>T	17.37:g.33495211C>T	ENSP00000268876:p.Ala428Val					UNC45B_ENST00000433649.1_Missense_Mutation_p.A428V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A428V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A428V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A428V	p.A428V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1380	+		Ovarian(249;0.17)	428					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1283C>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641582	0.87859	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.50548	1.52;0.78;1.52;0.74	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.55743	1.74	0.33391	D	0.576162	D;D;D	0.69078	0.992;0.982;0.997	D;P;D	0.70716	0.97;0.814;0.953	T	0.66488	-0.5911	10	0.31617	T	0.26	-26.4122	17.8675	0.88800	0.0:1.0:0.0:0.0	.	428;428;428	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	428	ENSP00000378071:A428V;ENSP00000268876:A428V;ENSP00000412840:A428V;ENSP00000367710:A428V	ENSP00000268876:A428V	A	+	2	0	UNC45B	30519324	1.000000	0.71417	0.631000	0.29282	0.963000	0.63663	7.609000	0.82925	2.767000	0.95098	0.655000	0.94253	GCA		0.592	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		29	109	0	0	0	1	0	29	109				
DCDC1	341019	broad.mit.edu	37	11	30953424	30953424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:30953424C>A	ENST00000597505.1	-	20	2790	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	279					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCATATGGCTCTGTTGTCTTA	0.443																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(2791-2793)Gag>Tag		doublecortin domain containing 1							86.0	83.0	84.0					11																	30953424		2202	4299	6501	SO:0001587	stop_gained	341019				intracellular signal transduction			g.chr11:30953424C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2791G>T	11.37:g.30953424C>A	ENSP00000472625:p.Glu931*					DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_5'UTR	p.E931*			P59894	DCDC1_HUMAN			20	2790	-	Lung SC(675;0.225)		279					A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	ENST00000597505.1	37	c.2791G>T		.	.	.	.	.	.	.	.	.	.	C	19.49	3.837571	0.71373	.	.	ENSG00000170959	ENST00000339794;ENST00000437348	.	.	.	4.55	2.66	0.31614	.	1.017930	0.07864	N	0.966744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0017	8.3862	0.32501	0.0:0.8081:0.0:0.1919	.	.	.	.	X	10	.	ENSP00000341700:E10X	E	-	1	0	DCDC5	30910000	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	0.488000	0.22371	0.614000	0.30107	0.455000	0.32223	GAG		0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		59	30	1	0	1.1362e-29	1	1.2918e-29	59	30				
GON4L	54856	broad.mit.edu	37	1	155735152	155735152	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155735152A>T	ENST00000368331.1	-	21	4160	c.4112T>A	c.(4111-4113)gTa>gAa	p.V1371E	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.V1371E|GON4L_ENST00000271883.5_Missense_Mutation_p.V1371E|GON4L_ENST00000361040.5_Missense_Mutation_p.V1371E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1371					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTTTCGTTACTTCTCCAGC	0.502																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4111-4113)gTa>gAa		gon-4-like (C. elegans)							135.0	132.0	133.0					1																	155735152		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735152A>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4112T>A	1.37:g.155735152A>T	ENSP00000357315:p.Val1371Glu					GON4L_ENST00000361040.5_Missense_Mutation_p.V1371E|GON4L_ENST00000271883.5_Missense_Mutation_p.V1371E|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.V1371E	p.V1371E			Q3T8J9	GON4L_HUMAN			21	4234	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1371					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4112T>A		.	.	.	.	.	.	.	.	.	.	A	11.82	1.751378	0.31046	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.12672	2.87;2.87;2.87;2.66	4.82	-4.73	0.03259	.	1.357460	0.04877	N	0.447041	T	0.01800	0.0057	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.34015	0.435;0.19;0.002;0.003	B;B;B;B	0.31101	0.124;0.023;0.002;0.005	T	0.31166	-0.9953	10	0.02654	T	1	.	11.3893	0.49804	0.2181:0.6349:0.147:0.0	.	1371;567;1371;1371	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	E	1371	ENSP00000396117:V1371E;ENSP00000357315:V1371E;ENSP00000271883:V1371E;ENSP00000354322:V1371E	ENSP00000271883:V1371E	V	-	2	0	GON4L	154001776	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.141000	0.16076	-1.099000	0.03034	-1.136000	0.01936	GTA		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		8	665	0	0	0	1	0	8	665				
MAD1L1	8379	broad.mit.edu	37	7	2274853	2274853	+	5'Flank	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:2274853T>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Silent_p.V121V|MAD1L1_ENST00000402746.1_5'Flank|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000242257.8_Silent_p.V215V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGATGATCCTTACATTCTGGA	0.502																																						ENST00000242257.8																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(643-645)gtA>gtT		FtsJ RNA methyltransferase homolog 2 (E. coli)							116.0	107.0	110.0					7																	2274853		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2274853T>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2274853T>A	Exception_encountered					FTSJ2_ENST00000407040.1_Silent_p.V121V|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR	p.V215V	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	673	-		Ovarian(82;0.0253)	215					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.645A>T	CCDS43539.1																																																																																				0.502	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		54	51	0	0	0	1	0	54	51				
VHL	7428	broad.mit.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	A	rs5030812|rs5030811		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:10188200C>A	ENST00000256474.2	+	2	1183	c.343C>A	c.(343-345)Cac>Aac	p.H115N	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		20	Substitution - Missense(13)|Deletion - Frameshift(4)|Unknown(3)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)	kidney(19)|pancreas(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM961423|CM982005	VHL	M	rs5030811	c.(343-345)Cac>Aac		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							167.0	155.0	159.0					3																	10188200		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188200C>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.343C>A	3.37:g.10188200C>A	ENSP00000256474:p.His115Asn					VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.H115N	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1183	+			115		H -> Q (in VHLD; type II).|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.343C>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226834	0.58668	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99963	-9.61	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99966	0.9987	M	0.84511	2.7	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.94877	0.8035	10	0.72032	D	0.01	0.1733	16.3181	0.82935	0.0:1.0:0.0:0.0	.	115	P40337	VHL_HUMAN	N	115;33	ENSP00000256474:H115N	ENSP00000256474:H115N	H	+	1	0	VHL	10163200	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.806000	0.69150	2.530000	0.85305	0.563000	0.77884	CAC		0.532	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		127	75	1	0	1.02559e-39	1	1.17822e-39	127	75				
SUPT6H	6830	broad.mit.edu	37	17	27024072	27024072	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27024072T>G	ENST00000314616.6	+	30	4464	c.4181T>G	c.(4180-4182)cTg>cGg	p.L1394R	SUPT6H_ENST00000347486.4_Missense_Mutation_p.L1394R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1394	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	p.L1394R(1)		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)					GCCTTCAGCCTGGGAGCCACT	0.577																																						ENST00000314616.6																			1	Substitution - Missense(1)	p.L1394R(1)	kidney(1)	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.(4180-4182)cTg>cGg		suppressor of Ty 6 homolog (S. cerevisiae)							71.0	55.0	60.0					17																	27024072		2203	4300	6503	SO:0001583	missense	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.chr17:27024072T>G	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.4181T>G	17.37:g.27024072T>G	ENSP00000319104:p.Leu1394Arg					SUPT6H_ENST00000347486.4_Missense_Mutation_p.L1394R	p.L1394R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			30	4464	+	Lung NSC(42;0.00431)		1394			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.4181T>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750056	0.89753	.	.	ENSG00000109111	ENST00000314616	T	0.33438	1.41	5.94	5.94	0.96194	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74777	-0.3550	10	0.66056	D	0.02	-12.0622	16.3951	0.83601	0.0:0.0:0.0:1.0	.	1394	Q7KZ85	SPT6H_HUMAN	R	1394	ENSP00000319104:L1394R	ENSP00000319104:L1394R	L	+	2	0	SUPT6H	24048199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.272000	0.75746	0.460000	0.39030	CTG		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		9	248	0	0	0	1	0	9	248				
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Nonsense_Mutation	SNP	G	G	T	rs181896248		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:51975487G>T	ENST00000220478.3	+	4	656	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	85					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(253-255)Gaa>Taa		secretogranin III							146.0	157.0	153.0					15																	51975487		2195	4293	6488	SO:0001587	stop_gained	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975487G>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.253G>T	15.37:g.51975487G>T	ENSP00000220478:p.Glu85*					SCG3_ENST00000542355.2_5'UTR	p.E85*	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	656	+			85					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Nonsense_Mutation	SNP	ENST00000220478.3	37	c.253G>T	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	39	7.368084	0.98241	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.17	4.31	0.51392	.	0.561470	0.20641	N	0.088415	.	.	.	.	.	.	0.31076	N	0.712436	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9982	11.8228	0.52250	0.0668:0.1356:0.7976:0.0	.	.	.	.	X	85	.	ENSP00000220478:E85X	E	+	1	0	SCG3	49762779	1.000000	0.71417	0.629000	0.29254	0.994000	0.84299	3.117000	0.50407	0.941000	0.37499	0.655000	0.94253	GAA		0.373	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		23	203	1	0	2.21704e-12	1	2.43266e-12	23	203				
GDAP1	54332	broad.mit.edu	37	8	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:75276279G>A	ENST00000220822.7	+	6	834	c.754G>A	c.(754-756)Gct>Act	p.A252T	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.A184T	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	252	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGTCTCACTCGCTGTCACATT	0.498																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(754-756)Gct>Act		ganglioside induced differentiation associated protein 1							71.0	69.0	70.0					8																	75276279		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75276279G>A		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.754G>A	8.37:g.75276279G>A	ENSP00000220822:p.Ala252Thr					GDAP1_ENST00000434412.2_Missense_Mutation_p.A184T|GDAP1_ENST00000521096.1_3'UTR	p.A252T	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	834	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	252			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.754G>A	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889113	0.91889	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.94537	-3.45;-3.45	4.99	4.99	0.66335	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	L	0.42529	1.33	0.58432	D	0.999996	D	0.62365	0.991	P	0.55667	0.781	D	0.91604	0.5297	10	0.14656	T	0.56	-13.0359	18.8301	0.92135	0.0:0.0:1.0:0.0	.	252	Q8TB36	GDAP1_HUMAN	T	252;184	ENSP00000220822:A252T;ENSP00000417006:A184T	ENSP00000220822:A252T	A	+	1	0	GDAP1	75438834	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	9.092000	0.94157	2.767000	0.95098	0.655000	0.94253	GCT		0.498	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		3	120	0	0	0	1	0	3	120				
YTHDC2	64848	broad.mit.edu	37	5	112899724	112899724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:112899724G>A	ENST00000161863.4	+	20	2824	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	871					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATCCTTTTGTACTACCTAC	0.433																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2611-2613)Gta>Ata		YTH domain containing 2							187.0	179.0	182.0					5																	112899724		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112899724G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2611G>A	5.37:g.112899724G>A	ENSP00000161863:p.Val871Ile						p.V871I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	20	2824	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	871					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.2611G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938180	0.52972	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.29655	1.56	5.08	4.15	0.48705	Helicase-associated domain (2);	0.133715	0.50627	D	0.000110	T	0.23688	0.0573	N	0.16166	0.38	0.80722	D	1	B	0.27910	0.193	B	0.37091	0.241	T	0.09796	-1.0658	10	0.30854	T	0.27	.	15.275	0.73734	0.0:0.1406:0.8594:0.0	.	871	Q9H6S0	YTDC2_HUMAN	I	871;781	ENSP00000161863:V871I	ENSP00000161863:V871I	V	+	1	0	YTHDC2	112927623	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	5.338000	0.65947	2.529000	0.85273	0.655000	0.94253	GTA		0.433	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		8	960	0	0	0	1	0	8	960				
TXNDC15	79770	broad.mit.edu	37	5	134235301	134235301	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:134235301A>T	ENST00000358387.4	+	5	1634	c.1009A>T	c.(1009-1011)Att>Ttt	p.I337F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I314F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	337					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATTAGTTTTATTATGTATGC	0.408																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(1009-1011)Att>Ttt		thioredoxin domain containing 15							122.0	121.0	121.0					5																	134235301		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134235301A>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.1009A>T	5.37:g.134235301A>T	ENSP00000351157:p.Ile337Phe					TXNDC15_ENST00000546290.1_Missense_Mutation_p.I314F	p.I337F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1634	+			337					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.1009A>T	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.29|16.29|16.29	3.082318|3.082318|3.082318	0.55861|0.55861|0.55861	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000508779|ENST00000509954	T;T|.|.	0.51817|.|.	0.69;0.7|.|.	5.75|5.75|5.75	4.6|4.6|4.6	0.57074|0.57074|0.57074	.|.|.	0.099186|.|.	0.64402|.|.	D|.|.	0.000002|.|.	T|T|T	0.43743|0.43743|0.43743	0.1261|0.1261|0.1261	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.49130|0.49130|0.49130	D|D|D	0.999753|0.999753|0.999753	P|.|.	0.45902|.|.	0.868|.|.	P|.|.	0.45506|.|.	0.483|.|.	T|T|T	0.24941|0.24941|0.24941	-1.0146|-1.0146|-1.0146	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-15.6806|-15.6806|-15.6806	9.4045|9.4045|9.4045	0.38453|0.38453|0.38453	0.8077:0.0:0.1923:0.0|0.8077:0.0:0.1923:0.0|0.8077:0.0:0.1923:0.0	.|.|.	337|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	F|F|F	321;337;314|320|91	ENSP00000351157:I337F;ENSP00000443942:I314F|.|.	ENSP00000351157:I337F|.|.	I|L|Y	+|+|+	1|3|2	0|2|0	TXNDC15|TXNDC15|TXNDC15	134263200|134263200|134263200	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	3.159000|3.159000|3.159000	0.50731|0.50731|0.50731	1.016000|1.016000|1.016000	0.39470|0.39470|0.39470	-0.250000|-0.250000|-0.250000	0.11733|0.11733|0.11733	ATT|TTA|TAT		0.408	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		4	69	0	0	0	1	0	4	69				
DIP2B	57609	broad.mit.edu	37	12	51117016	51117016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:51117016C>A	ENST00000301180.5	+	27	3232	c.3198C>A	c.(3196-3198)tgC>tgA	p.C1066*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1066						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTATGGCTGCCTGTATGCGG	0.517																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3196-3198)tgC>tgA		DIP2 disco-interacting protein 2 homolog B (Drosophila)							163.0	139.0	147.0					12																	51117016		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51117016C>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3198C>A	12.37:g.51117016C>A	ENSP00000301180:p.Cys1066*						p.C1066*	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			27	3232	+			1066					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.3198C>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	39	7.771020	0.98480	.	.	ENSG00000066084	ENST00000301180	.	.	.	4.95	3.13	0.36017	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9297	11.6438	0.51249	0.0:0.7952:0.0:0.2048	.	.	.	.	X	1066	.	ENSP00000301180:C1066X	C	+	3	2	DIP2B	49403283	0.981000	0.34729	1.000000	0.80357	0.812000	0.45895	0.361000	0.20267	1.477000	0.48234	0.563000	0.77884	TGC		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		11	325	1	0	5.50884e-06	1	5.88322e-06	11	325				
PABPC3	5042	broad.mit.edu	37	13	25670434	25670434	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:25670434C>T	ENST00000281589.3	+	1	135	c.98C>T	c.(97-99)cCg>cTg	p.P33L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	33	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTTCAGCCCGGCAGGGCCC	0.617																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(97-99)cCg>cTg		poly(A) binding protein, cytoplasmic 3							76.0	74.0	75.0					13																	25670434		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670434C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.98C>T	13.37:g.25670434C>T	ENSP00000281589:p.Pro33Leu						p.P33L	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	135	+		Lung SC(185;0.0225)|Breast(139;0.0602)	33			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.98C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	8.258	0.810492	0.16537	.	.	ENSG00000151846	ENST00000281589	T	0.17370	2.28	0.546	-1.09	0.09904	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.182139	0.23983	U	0.042660	T	0.18130	0.0435	M	0.75447	2.3	0.46901	D	0.999247	B	0.25312	0.123	B	0.21151	0.033	T	0.03863	-1.0997	10	0.62326	D	0.03	.	8.5727	0.33578	0.0:0.7203:0.2797:0.0	.	33	Q9H361	PABP3_HUMAN	L	33	ENSP00000281589:P33L	ENSP00000281589:P33L	P	+	2	0	PABPC3	24568434	0.921000	0.31238	0.074000	0.20217	0.005000	0.04900	2.789000	0.47813	-1.905000	0.01090	-2.270000	0.00275	CCG		0.617	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		7	513	0	0	0	1	0	7	513				
PRAMEF10	343071	broad.mit.edu	37	1	12954436	12954436	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12954436G>A	ENST00000235347.4	-	3	926	c.847C>T	c.(847-849)Cac>Tac	p.H283Y		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	283					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTGCTCTTTGATA	0.453																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(847-849)Cac>Tac		PRAME family member 10							3.0	2.0	2.0					1																	12954436		812	1707	2519	SO:0001583	missense	343071							g.chr1:12954436G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.847C>T	1.37:g.12954436G>A	ENSP00000235347:p.His283Tyr						p.H283Y	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	926	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	283					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.847C>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	2.001	-0.429351	0.04701	.	.	ENSG00000187545	ENST00000235347	T	0.00949	5.51	1.57	1.57	0.23409	.	0.767706	0.12378	N	0.474125	T	0.01061	0.0035	L	0.42632	1.34	0.09310	N	1	B	0.16802	0.019	B	0.18871	0.023	T	0.43114	-0.9411	10	0.36615	T	0.2	.	6.6166	0.22780	0.0:0.0:1.0:0.0	.	283	O60809	PRA10_HUMAN	Y	283	ENSP00000235347:H283Y	ENSP00000235347:H283Y	H	-	1	0	PRAMEF10	12877023	0.001000	0.12720	0.002000	0.10522	0.251000	0.25915	0.005000	0.13129	1.176000	0.42840	0.194000	0.17425	CAC		0.453	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		243	115	0	0	0	1	0	243	115				
ZNF292	23036	broad.mit.edu	37	6	87970890	87970890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:87970890C>T	ENST00000369577.3	+	8	7586	c.7543C>T	c.(7543-7545)Cag>Tag	p.Q2515*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2515						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATGATTTTCAGGAAGATAA	0.299																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7543-7545)Cag>Tag		zinc finger protein 292							41.0	39.0	40.0					6																	87970890		1799	4055	5854	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970890C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7543C>T	6.37:g.87970890C>T	ENSP00000358590:p.Gln2515*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	p.Q2515*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7586	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2515					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.7543C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	43	9.827955	0.99273	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.76	4.88	0.63580	.	0.211843	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	16.1635	0.81734	0.1346:0.8654:0.0:0.0	.	.	.	.	X	2515;2510	.	ENSP00000342847:Q2510X	Q	+	1	0	ZNF292	88027609	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	2.208000	0.42797	1.410000	0.46936	0.591000	0.81541	CAG		0.299	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		6	23	0	0	0	1	0	6	23				
DNAJB4	11080	broad.mit.edu	37	1	78478852	78478852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:78478852T>C	ENST00000370763.5	+	2	586	c.329T>C	c.(328-330)aTt>aCt	p.I110T	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	110					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCTTTGAAATTTTCTTTGGA	0.448																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(328-330)aTt>aCt		DnaJ (Hsp40) homolog, subfamily B, member 4							128.0	133.0	132.0					1																	78478852		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478852T>C	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.329T>C	1.37:g.78478852T>C	ENSP00000359799:p.Ile110Thr					GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	p.I110T	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	586	+			110					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.329T>C	CCDS684.1	.	.	.	.	.	.	.	.	.	.	T	8.222	0.802791	0.16397	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.72942	-0.7;-0.7	5.38	4.24	0.50183	.	0.165132	0.56097	D	0.000026	T	0.35653	0.0939	N	0.25789	0.76	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19321	-1.0309	10	0.15066	T	0.55	.	11.2203	0.48851	0.0:0.0721:0.0:0.9279	.	110	Q9UDY4	DNJB4_HUMAN	T	110	ENSP00000399494:I110T;ENSP00000359799:I110T	ENSP00000359799:I110T	I	+	2	0	DNAJB4	78251440	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.110000	0.64622	0.867000	0.35654	0.524000	0.50904	ATT		0.448	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			81	278	0	0	0	1	0	81	278				
MET	4233	broad.mit.edu	37	7	116380002	116380002	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:116380002A>T	ENST00000318493.6	+	4	1579		c.e4-1		MET_ENST00000436117.2_Splice_Site|MET_ENST00000397752.3_Splice_Site|MET_ENST00000495962.1_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGCTGTTTAGGTTGTGGTT	0.388			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.e4-1		met proto-oncogene							230.0	204.0	212.0					7																	116380002		1846	4087	5933	SO:0001630	splice_region_variant	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116380002A>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1393-1A>T	7.37:g.116380002A>T						MET_ENST00000318493.6_Splice_Site|MET_ENST00000495962.1_Splice_Site|MET_ENST00000436117.2_Splice_Site		NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		4	1592	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37		CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023456	0.35701	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3378	0.83071	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116167238	1.000000	0.71417	0.997000	0.53966	0.178000	0.23041	7.107000	0.77047	2.255000	0.74692	0.533000	0.62120	.		0.388	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	8	404	0	0	0	1	0	8	404				
SUSD3	203328	broad.mit.edu	37	9	95840260	95840260	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:95840260G>A	ENST00000375472.3	+	3	446	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.R124Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	137						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGAGCAAGCGGCGGCGCTCC	0.607																																						ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(409-411)cGg>cAg		sushi domain containing 3							131.0	108.0	116.0					9																	95840260		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95840260G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.410G>A	9.37:g.95840260G>A	ENSP00000364621:p.Arg137Gln					SUSD3_ENST00000375469.1_Missense_Mutation_p.R124Q	p.R137Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			3	446	+			137					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.410G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	6.422	0.446064	0.12164	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.61742	0.08;0.48	5.16	-10.3	0.00346	.	1.183550	0.05918	N	0.632889	T	0.33760	0.0874	N	0.16790	0.44	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.22706	T	0.39	-2.6107	11.5063	0.50468	0.2048:0.223:0.5722:0.0	.	124;137	Q96L08-2;Q96L08	.;SUSD3_HUMAN	Q	137;124	ENSP00000364621:R137Q;ENSP00000364618:R124Q	ENSP00000364618:R124Q	R	+	2	0	SUSD3	94880081	0.267000	0.24122	0.000000	0.03702	0.003000	0.03518	0.192000	0.17096	-1.722000	0.01377	-1.701000	0.00721	CGG		0.607	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		5	757	0	0	0	1	0	5	757				
TMCO1	54499	broad.mit.edu	37	1	165712550	165712550	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:165712550T>A	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAA	0.383																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1							41.0	46.0	45.0					1																	165712550		2203	4300	6503	SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550T>A	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2A>T	1.37:g.165712550T>A						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	SNP	ENST00000392129.6	37			.	.	.	.	.	.	.	.	.	.	T	20.7	4.032513	0.75504	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2957	0.66311	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMCO1	163979174	1.000000	0.71417	0.972000	0.41901	0.846000	0.48090	7.606000	0.82863	2.269000	0.75478	0.533000	0.62120	.		0.383	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	7	51	0	0	0	1	0	7	51				
RAD23B	5887	broad.mit.edu	37	9	110086193	110086193	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:110086193G>A	ENST00000358015.3	+	8	1191	c.840G>A	c.(838-840)cgG>cgA	p.R280R	RAD23B_ENST00000416373.2_Silent_p.R208R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	280	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTTTTACGGAATCAGCCTC	0.358								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(838-840)cgG>cgA	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							143.0	140.0	141.0					9																	110086193		2202	4300	6502	SO:0001819	synonymous_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110086193G>A		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.840G>A	9.37:g.110086193G>A						RAD23B_ENST00000416373.2_Silent_p.R208R	p.R280R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			8	1191	+			280			STI1.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Silent	SNP	ENST00000358015.3	37	c.840G>A	CCDS6769.1																																																																																				0.358	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		7	133	0	0	0	1	0	7	133				
TARS	6897	broad.mit.edu	37	5	33453474	33453474	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:33453474G>A	ENST00000265112.3	+	4	721	c.410G>A	c.(409-411)tGt>tAt	p.C137Y	TARS_ENST00000541634.1_Missense_Mutation_p.C33Y|TARS_ENST00000455217.2_Missense_Mutation_p.C170Y|TARS_ENST00000414361.2_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.C137Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	137					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GAAGAAGATTGTACCTTGGAG	0.398																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(409-411)tGt>tAt		threonyl-tRNA synthetase	L-Threonine(DB00156)						117.0	120.0	119.0					5																	33453474		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33453474G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.410G>A	5.37:g.33453474G>A	ENSP00000265112:p.Cys137Tyr					TARS_ENST00000541634.1_Missense_Mutation_p.C33Y|TARS_ENST00000414361.2_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.C137Y|TARS_ENST00000455217.2_Missense_Mutation_p.C170Y	p.C137Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			4	721	+			137					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.410G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307347	0.81247	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.78	5.78	0.91487	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	H	0.97077	3.935	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.73380	0.98;0.967;0.98	T	0.60203	-0.7309	10	0.87932	D	0	-24.5043	20.0713	0.97726	0.0:0.0:1.0:0.0	.	170;33;137	B4DEG8;G3XAN9;P26639	.;.;SYTC_HUMAN	Y	137;137;33;170	ENSP00000424387:C137Y;ENSP00000265112:C137Y;ENSP00000438469:C33Y;ENSP00000387710:C170Y	ENSP00000265112:C137Y	C	+	2	0	TARS	33489231	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.564000	0.73969	2.751000	0.94390	0.585000	0.79938	TGT		0.398	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		4	219	0	0	0	1	0	4	219				
E2F8	79733	broad.mit.edu	37	11	19247052	19247052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:19247052C>T	ENST00000527884.1	-	12	2369	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	E2F8_ENST00000250024.4_Missense_Mutation_p.G713R|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	713					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCTGTTCCCGACAGGTACG	0.522																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2137-2139)Ggg>Agg		E2F transcription factor 8							79.0	74.0	76.0					11																	19247052		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247052C>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2137G>A	11.37:g.19247052C>T	ENSP00000434199:p.Gly713Arg					E2F8_ENST00000250024.4_Missense_Mutation_p.G713R|RP11-428C19.4_ENST00000527978.1_RNA	p.G713R	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			12	2369	-			713					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2137G>A	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267982	0.59540	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.21361	2.01;2.01	5.98	5.98	0.97165	.	0.639220	0.16959	N	0.192585	T	0.27798	0.0684	L	0.46157	1.445	0.29841	N	0.829239	D	0.61697	0.99	P	0.51055	0.657	T	0.16247	-1.0409	10	0.51188	T	0.08	-17.8016	10.0214	0.42046	0.0:0.7878:0.1394:0.0728	.	713	A0AVK6	E2F8_HUMAN	R	713	ENSP00000434199:G713R;ENSP00000250024:G713R	ENSP00000250024:G713R	G	-	1	0	E2F8	19203628	0.903000	0.30736	1.000000	0.80357	0.994000	0.84299	1.956000	0.40382	2.838000	0.97847	0.591000	0.81541	GGG		0.522	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	76	0	0	0	1	0	17	76				
VPS11	55823	broad.mit.edu	37	11	118948939	118948939	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:118948939C>T	ENST00000300793.6	+	12	1857	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	606					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGCTGAAAGCCTTCCTAGAGC	0.552																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(1813-1815)gcC>gcT		vacuolar protein sorting 11 homolog (S. cerevisiae)							151.0	151.0	151.0					11																	118948939		1992	4167	6159	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948939C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1815C>T	11.37:g.118948939C>T						VPS11_ENST00000527798.1_3'UTR	p.A605A	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	12	1857	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	606					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.1815C>T																																																																																					0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		48	260	0	0	0	1	0	48	260				
KIF16B	55614	broad.mit.edu	37	20	16407888	16407888	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:16407888T>A	ENST00000354981.2	-	15	1632		c.e15-2		KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATGAAGAACTAAAGTGGAAA	0.393																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.e15-2		kinesin family member 16B							62.0	61.0	61.0					20																	16407888		2203	4300	6503	SO:0001630	splice_region_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407888T>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1475-2A>T	20.37:g.16407888T>A						KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site		NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			15	1632	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751461	0.69533	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8336	0.78778	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF16B	16355888	1.000000	0.71417	0.975000	0.42487	0.648000	0.38561	8.040000	0.89188	2.153000	0.67306	0.528000	0.53228	.		0.393	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Intron	5	229	0	0	0	1	0	5	229				
ZNF772	400720	broad.mit.edu	37	19	57985282	57985282	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:57985282C>T	ENST00000343280.4	-	5	1090	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R277H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGAGTCTTTGCGGCTGAAGGT	0.488																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			1	Substitution - Missense(1)	p.R277H(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(829-831)cGc>cAc		zinc finger protein 772							111.0	106.0	108.0					19																	57985282		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985282C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.830G>A	19.37:g.57985282C>T	ENSP00000341165:p.Arg277His					ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron	p.R277H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	1090	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	277					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.830G>A	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798193	0.31777	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.01034	5.42;5.42;5.42	3.54	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	L	0.31578	0.945	0.80722	D	1	B;P;D	0.65815	0.437;0.492;0.995	B;B;D	0.63488	0.011;0.028;0.915	T	0.72431	-0.4296	9	0.18276	T	0.48	.	4.924	0.13883	0.0:0.7489:0.0:0.2511	.	165;236;277	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	H	277;165;236;202	ENSP00000341165:R277H;ENSP00000395967:R165H;ENSP00000348992:R236H	ENSP00000291809:R202H	R	-	2	0	ZNF772	62677094	0.000000	0.05858	1.000000	0.80357	0.861000	0.49209	-1.674000	0.01949	2.007000	0.58848	0.305000	0.20034	CGC		0.488	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		4	324	0	0	0	1	0	4	324				
RAMP2	10266	broad.mit.edu	37	17	40914403	40914403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40914403T>C	ENST00000253796.5	+	3	262	c.194T>C	c.(193-195)gTc>gCc	p.V65A	RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000587142.1_Missense_Mutation_p.V70A|RAMP2_ENST00000588576.1_Intron|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	65					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GAGACAGCTGTCCAATTTTGC	0.512																																						ENST00000253796.5																			0				endometrium(2)|lung(1)|stomach(1)	4						c.(193-195)gTc>gCc		receptor (G protein-coupled) activity modifying protein 2	Pramlintide(DB01278)						149.0	144.0	146.0					17																	40914403		2203	4300	6503	SO:0001583	missense	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40914403T>C	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.194T>C	17.37:g.40914403T>C	ENSP00000253796:p.Val65Ala					RAMP2_ENST00000587142.1_Missense_Mutation_p.V70A|RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000588576.1_Intron	p.V65A	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	3	262	+		Breast(137;0.000143)	65					A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	ENST00000253796.5	37	c.194T>C	CCDS11437.1	.	.	.	.	.	.	.	.	.	.	T	6.683	0.494626	0.12702	.	.	ENSG00000131477	ENST00000253796	T	0.40476	1.03	4.41	-1.6	0.08426	.	0.923693	0.09217	N	0.832442	T	0.22781	0.0550	N	0.12471	0.22	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.25433	-1.0132	10	0.25751	T	0.34	-37.5378	9.6121	0.39670	0.0:0.582:0.0:0.418	.	70;65	E7EM49;O60895	.;RAMP2_HUMAN	A	65	ENSP00000253796:V65A	ENSP00000253796:V65A	V	+	2	0	RAMP2	38167929	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.187000	0.09656	-0.207000	0.10187	0.402000	0.26972	GTC		0.512	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854		5	269	0	0	0	1	0	5	269				
METTL4	64863	broad.mit.edu	37	18	2547452	2547452	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:2547452T>A	ENST00000574538.1	-	6	1751	c.976A>T	c.(976-978)Act>Tct	p.T326S	METTL4_ENST00000319888.6_Missense_Mutation_p.T326S	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	326					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTCACCCAAGTAACAAGAAGA	0.408																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(976-978)Act>Tct		methyltransferase like 4							83.0	79.0	80.0					18																	2547452		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2547452T>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.976A>T	18.37:g.2547452T>A	ENSP00000458290:p.Thr326Ser					METTL4_ENST00000574538.1_Missense_Mutation_p.T326S	p.T326S			Q8N3J2	METL4_HUMAN			6	1774	-			326					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.976A>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800716	0.90538	.	.	ENSG00000101574	ENST00000319888	T	0.41758	0.99	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.75447	2.3	0.58432	D	0.999991	D;D	0.89917	0.996;1.0	D;D	0.80764	0.97;0.994	T	0.69591	-0.5104	10	0.87932	D	0	-26.8289	15.7396	0.77882	0.0:0.0:0.0:1.0	.	326;326	A8K1T6;Q8N3J2	.;METL4_HUMAN	S	326	ENSP00000320349:T326S	ENSP00000320349:T326S	T	-	1	0	METTL4	2537452	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.261000	0.78400	2.179000	0.69175	0.528000	0.53228	ACT		0.408	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		6	298	0	0	0	1	0	6	298				
WDR75	84128	broad.mit.edu	37	2	190334800	190334800	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:190334800A>T	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTTCCCTCTAGTGTTTGTAT	0.428																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.e17-1		WD repeat domain 75							142.0	148.0	146.0					2																	190334800		2203	4300	6503	SO:0001630	splice_region_variant	84128					nucleolus		g.chr2:190334800A>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1820-1A>T	2.37:g.190334800A>T								NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		17	1879	+								Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Splice_Site	SNP	ENST00000314761.4	37		CCDS2298.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549188	0.86127	.	.	ENSG00000115368	ENST00000314761	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR75	190043045	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.767000	0.91732	2.285000	0.76669	0.477000	0.44152	.		0.428	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	Intron	6	418	0	0	0	1	0	6	418				
CHMP2A	27243	broad.mit.edu	37	19	59063676	59063676	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:59063676C>T	ENST00000600118.1	-	2	723	c.298G>A	c.(298-300)Gca>Aca	p.A100T	CHMP2A_ENST00000312547.2_Missense_Mutation_p.A100T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A100T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	100	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCTTGTGCCATCGAGTTG	0.577																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(298-300)Gca>Aca		charged multivesicular body protein 2A							213.0	162.0	179.0					19																	59063676		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063676C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.298G>A	19.37:g.59063676C>T	ENSP00000469240:p.Ala100Thr					CHMP2A_ENST00000601220.1_Missense_Mutation_p.A100T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A100T	p.A100T			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	723	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	100			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.298G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688791	0.68271	.	.	ENSG00000130724	ENST00000312547	T	0.72725	-0.68	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.67700	2.07	0.80722	D	1	P	0.37688	0.605	B	0.33799	0.17	T	0.68618	-0.5361	10	0.33141	T	0.24	.	16.6217	0.84932	0.0:1.0:0.0:0.0	.	100	O43633	CHM2A_HUMAN	T	100	ENSP00000310440:A100T	ENSP00000310440:A100T	A	-	1	0	CHMP2A	63755488	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.020000	0.76419	2.606000	0.88127	0.650000	0.86243	GCA		0.577	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		5	450	0	0	0	1	0	5	450				
TCOF1	6949	broad.mit.edu	37	5	149749096	149749096	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149749096G>T	ENST00000504761.2	+	6	570	c.570G>T	c.(568-570)atG>atT	p.M190I	TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I|TCOF1_ENST00000451292.1_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	190					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGGGATGGTGTCAGCGG	0.627																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(568-570)atG>atT		Treacher Collins-Franceschetti syndrome 1							87.0	77.0	80.0					5																	149749096		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149749096G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.570G>T	5.37:g.149749096G>T	ENSP00000421655:p.Met190Ile					TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000504761.2_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I	p.M190I			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	678	+		all_hematologic(541;0.224)	190					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.570G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937672	0.34189	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.74209	-0.8;-0.8;-0.82;-0.82;-0.8;1.6;-0.8;-0.8;-0.8	3.36	0.471	0.16752	.	1.043690	0.07588	N	0.921452	T	0.67608	0.2911	L	0.57536	1.79	0.09310	N	1	P;B;P;P;B;B	0.36733	0.494;0.002;0.494;0.567;0.002;0.005	B;B;B;B;B;B	0.39217	0.294;0.002;0.294;0.154;0.002;0.004	T	0.54417	-0.8297	10	0.33141	T	0.24	-0.0424	3.4449	0.07477	0.2504:0.217:0.5326:0.0	.	190;190;190;190;190;190	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	I	190	ENSP00000400939:M190I;ENSP00000367028:M190I;ENSP00000409944:M190I;ENSP00000325223:M190I;ENSP00000406888:M190I;ENSP00000377811:M190I;ENSP00000390717:M190I;ENSP00000421655:M190I;ENSP00000427484:M190I	ENSP00000325223:M190I	M	+	3	0	TCOF1	149729289	0.064000	0.20934	0.019000	0.16419	0.509000	0.34042	0.613000	0.24299	0.085000	0.17107	0.462000	0.41574	ATG		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		43	124	1	0	1.36018e-38	1	1.55854e-38	43	124				
HERC2P4	100289574	broad.mit.edu	37	16	32163517	32163517	+	IGR	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:32163517C>T								RP11-1166P10.6 (67411 upstream) : HERC2P4 (17787 downstream)																							CGGGGTGATGCCAGTCACGGT	0.562																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	100289574							g.chr16:32163517C>T																													16.37:g.32163517C>T														0	65	-									RNA	SNP		37																																																																																					0	0.562									4	279	0	0	0	1	0	4	279				
SLC29A4	222962	broad.mit.edu	37	7	5330422	5330422	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5330422G>T	ENST00000396872.3	+	3	390	c.229G>T	c.(229-231)Gct>Tct	p.A77S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.A77S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.A77S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	77					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GATGCTGCTGGCTGGCGTGGG	0.607																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(229-231)Gct>Tct		solute carrier family 29 (equilibrative nucleoside transporter), member 4							106.0	79.0	88.0					7																	5330422		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330422G>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.229G>T	7.37:g.5330422G>T	ENSP00000380081:p.Ala77Ser					SLC29A4_ENST00000406453.3_Missense_Mutation_p.A77S|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A77S	p.A77S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	390	+		Ovarian(82;0.0175)	77					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.229G>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939426	0.92526	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	4.09	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.82323	2.585	0.80722	D	1	D;D	0.60160	0.972;0.987	P;P	0.56127	0.636;0.792	T	0.61446	-0.7061	10	0.59425	D	0.04	-6.1691	14.5557	0.68100	0.0:0.0:1.0:0.0	.	77;77	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	S	77	ENSP00000406803:A77S;ENSP00000380081:A77S;ENSP00000413271:A77S;ENSP00000297195:A77S;ENSP00000385845:A77S	ENSP00000297195:A77S	A	+	1	0	SLC29A4	5296948	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.890000	0.92477	1.834000	0.53371	0.556000	0.70494	GCT		0.607	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		4	154	1	0	2.21704e-12	1	2.43266e-12	4	154				
PBRM1	55193	broad.mit.edu	37	3	52662912	52662912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:52662912G>A	ENST00000296302.7	-	12	1442	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q449*			Q86U86	PB1_HUMAN	polybromo 1	481					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATCACACCTGCATAACTTGC	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1345-1347)Cag>Tag		polybromo 1							89.0	84.0	86.0					3																	52662912		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52662912G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1441C>T	3.37:g.52662912G>A	ENSP00000296302:p.Gln481*					PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*	p.Q449*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	11	1347	-			481			Bromo 3.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1345C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.065041	0.97251	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	0.9419	18.7389	0.91767	0.0:0.0:1.0:0.0	.	.	.	.	X	449;481;481;481;481;481;481;481;481;425	.	ENSP00000296302:Q481X	Q	-	1	0	PBRM1	52637952	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.476000	0.97823	2.430000	0.82344	0.563000	0.77884	CAG		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		41	59	0	0	0	1	0	41	59				
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(757-759)Att>Ttt		olfactory receptor, family 4, subfamily A, member 47							210.0	203.0	206.0					11																	48511101		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511101A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.757A>T	11.37:g.48511101A>T	ENSP00000412752:p.Ile253Phe						p.I253F	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	833	+			253						Missense_Mutation	SNP	ENST00000446524.1	37	c.757A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.88	2.071358	0.36566	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.112422	0.39759	N	0.001267	T	0.53254	0.1785	L	0.49256	1.55	0.34554	D	0.711651	D	0.71674	0.998	D	0.70935	0.971	T	0.66284	-0.5962	10	0.87932	D	0	.	7.5947	0.28041	0.8099:0.0:0.0:0.1901	.	253	Q6IF82	O4A47_HUMAN	F	253	ENSP00000412752:I253F	ENSP00000412752:I253F	I	+	1	0	OR4A47	48467677	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	0.243000	0.18106	1.692000	0.51112	0.172000	0.16884	ATT		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		9	645	0	0	0	1	0	9	645				
ATP1A1	476	broad.mit.edu	37	1	116932982	116932982	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:116932982A>G	ENST00000295598.5	+	9	1423	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	ATP1A1_ENST00000537345.1_Missense_Mutation_p.M391V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	391					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGTGGCCCACATGTGGTTTGA	0.507																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1171-1173)Atg>Gtg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						74.0	69.0	71.0					1																	116932982		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932982A>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1171A>G	1.37:g.116932982A>G	ENSP00000295598:p.Met391Val					ATP1A1_ENST00000295598.5_Missense_Mutation_p.M391V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V	p.M391V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	9	1534	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	391					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.1171A>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.272851	0.59649	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.77620	-1.11;-1.11;-1.11	4.87	4.87	0.63330	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.069535	0.85682	D	0.000000	T	0.43478	0.1249	N	0.02011	-0.69	0.80722	D	1	B;B	0.19200	0.028;0.034	B;B	0.31390	0.079;0.129	T	0.49495	-0.8934	10	0.38643	T	0.18	.	14.6423	0.68734	1.0:0.0:0.0:0.0	.	391;391	F5H3A1;P05023	.;AT1A1_HUMAN	V	391;391;390;360	ENSP00000295598:M391V;ENSP00000445306:M391V;ENSP00000358508:M360V	ENSP00000295598:M391V	M	+	1	0	ATP1A1	116734505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.305000	0.78891	2.068000	0.61886	0.528000	0.53228	ATG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		53	68	0	0	0	1	0	53	68				
CASP10	843	broad.mit.edu	37	2	202060612	202060612	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:202060612C>A	ENST00000272879.5	+	5	809	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000286186.6_Missense_Mutation_p.Q209K|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(625-627)Caa>Aaa		caspase 10, apoptosis-related cysteine peptidase							225.0	210.0	215.0					2																	202060612		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202060612C>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.625C>A	2.37:g.202060612C>A	ENSP00000272879:p.Gln209Lys					CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K|CASP10_ENST00000272879.5_Missense_Mutation_p.Q209K	p.Q209K	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			5	1060	+			209					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.625C>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507895	0.27036	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.44083	4.5;0.93;4.42;0.94;4.45;4.17;4.39	3.42	2.52	0.30459	.	1.988590	0.02064	N	0.051008	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B;B;B;B;B;P	0.37781	0.009;0.023;0.085;0.148;0.006;0.608	B;B;B;B;B;B	0.27380	0.009;0.013;0.01;0.053;0.006;0.079	T	0.23368	-1.0190	10	0.05351	T	0.99	.	8.9003	0.35490	0.0:0.7725:0.2275:0.0	.	209;209;209;209;209;209	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	K	209	ENSP00000286186:Q209K;ENSP00000353250:Q209K;ENSP00000272879:Q209K;ENSP00000363781:Q209K;ENSP00000237865:Q209K;ENSP00000314599:Q209K;ENSP00000396835:Q209K	ENSP00000272879:Q209K	Q	+	1	0	CASP10	201768857	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.171000	0.31896	0.992000	0.38840	0.655000	0.94253	CAA		0.433	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		260	770	1	0	4.27651e-76	1	5.00443e-76	260	770				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	497	0	0	0	1	0	6	497				
ANTXR1	84168	broad.mit.edu	37	2	69379378	69379378	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:69379378G>T	ENST00000303714.4	+	13	1351	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	ANTXR1_ENST00000409349.3_Missense_Mutation_p.W343C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	343					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTGGTTCTGGCCCCTCTGCT	0.567									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1027-1029)tgG>tgT		anthrax toxin receptor 1							190.0	136.0	155.0					2																	69379378		2203	4300	6503	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69379378G>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1029G>T	2.37:g.69379378G>T	ENSP00000301945:p.Trp343Cys					ANTXR1_ENST00000409349.3_Missense_Mutation_p.W343C	p.W343C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			13	1351	+			343					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1029G>T	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318003	0.81469	.	.	ENSG00000169604	ENST00000303714;ENST00000409349	T;T	0.54279	0.58;1.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78674	-0.2112	10	0.87932	D	0	-9.0857	17.5025	0.87735	0.0:0.0:1.0:0.0	.	343;343	Q9H6X2;Q9H6X2-2	ANTR1_HUMAN;.	C	343	ENSP00000301945:W343C;ENSP00000386494:W343C	ENSP00000301945:W343C	W	+	3	0	ANTXR1	69232882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.206000	0.95056	2.731000	0.93534	0.655000	0.94253	TGG		0.567	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		7	431	1	0	5.18039e-06	1	5.54592e-06	7	431				
CCDC47	57003	broad.mit.edu	37	17	61843526	61843526	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:61843526A>T	ENST00000225726.5	-	2	392	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	CCDC47_ENST00000582252.1_Missense_Mutation_p.F4I|CCDC47_ENST00000403162.3_Missense_Mutation_p.F4I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	4					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAAGTGTGGAAGGCTTTCATT	0.363																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(10-12)Ttc>Atc		coiled-coil domain containing 47							96.0	90.0	92.0					17																	61843526		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61843526A>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.10T>A	17.37:g.61843526A>T	ENSP00000225726:p.Phe4Ile					CCDC47_ENST00000582252.1_Missense_Mutation_p.F4I|CCDC47_ENST00000403162.3_Missense_Mutation_p.F4I	p.F4I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			2	392	-			4					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.10T>A	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048861	0.36181	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	4.92	-1.48	0.08745	.	0.377447	0.30269	N	0.010011	T	0.15349	0.0370	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08827	-1.0703	9	0.20519	T	0.43	0.2526	0.8221	0.01113	0.4648:0.1309:0.1508:0.2535	.	4;4	Q96A33-2;Q96A33	.;CCD47_HUMAN	I	4	.	ENSP00000225726:F4I	F	-	1	0	CCDC47	59197258	0.000000	0.05858	0.745000	0.31077	0.964000	0.63967	-0.247000	0.08866	-0.162000	0.10964	0.416000	0.27883	TTC		0.363	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		5	185	0	0	0	1	0	5	185				
MCTP1	79772	broad.mit.edu	37	5	94043228	94043228	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:94043228A>T	ENST00000515393.1	-	23	2972	c.2973T>A	c.(2971-2973)taT>taA	p.Y991*	MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	991					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTCTTTTATATGGGCTAT	0.453																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2971-2973)taT>taA		multiple C2 domains, transmembrane 1							148.0	143.0	145.0					5																	94043228		2203	4300	6503	SO:0001587	stop_gained	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94043228A>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2973T>A	5.37:g.94043228A>T	ENSP00000424126:p.Tyr991*					MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000514040.1_Intron|ANKRD32_ENST00000493934.1_Intron	p.Y991*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	23	2972	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	991					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Nonsense_Mutation	SNP	ENST00000515393.1	37	c.2973T>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	34	5.298539	0.95574	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216	.	.	.	5.66	3.2	0.36748	.	0.211585	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2733	8.4095	0.32636	0.6903:0.0:0.3097:0.0	.	.	.	.	X	991;684;507;770	.	ENSP00000308957:Y770X	Y	-	3	2	MCTP1	94068984	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.675000	0.46875	0.397000	0.25310	0.482000	0.46254	TAT		0.453	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		7	381	0	0	0	1	0	7	381				
ATN1	1822	broad.mit.edu	37	12	7043425	7043425	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7043425C>T	ENST00000356654.4	+	3	351	c.114C>T	c.(112-114)gtC>gtT	p.V38V	ATN1_ENST00000396684.2_Silent_p.V38V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	38					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGGAGGGGTCAGCACGTCCA	0.617																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(112-114)gtC>gtT		atrophin 1							57.0	61.0	60.0					12																	7043425		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7043425C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.114C>T	12.37:g.7043425C>T						ATN1_ENST00000396684.2_Silent_p.V38V	p.V38V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			3	351	+			38					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.114C>T	CCDS31734.1																																																																																				0.617	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		5	518	0	0	0	1	0	5	518				
KIAA0226L	80183	broad.mit.edu	37	13	46917575	46917575	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:46917575G>A	ENST00000429979.1	-	15	2538	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A645V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A578V|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.R594*|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A510V|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.R594*	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	645										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGTGATCCTCGCACACCGGGG	0.517																																						ENST00000378797.2																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1780-1782)Cga>Tga		KIAA0226-like							83.0	74.0	77.0					13																	46917575		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46917575G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1934C>T	13.37:g.46917575G>A	ENSP00000396935:p.Ala645Val					KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000429979.1_Missense_Mutation_p.A645V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A578V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A645V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A510V|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.R594*	p.R594*			Q9H714	CM018_HUMAN			14	2384	-			0					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Nonsense_Mutation	SNP	ENST00000429979.1	37	c.1780C>T	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.985868|6.985868	0.97983|0.97983	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925|ENST00000378797;ENST00000378787	T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.84|.	5.55|5.55	-2.2|-2.2	0.06994|0.06994	.|.	.|2.102030	.|0.02513	.|N	.|0.091693	T|.	0.21801|.	0.0525|.	N|N	0.25426|0.25426	0.745|0.745	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.15930|.	0.004;0.004;0.015;0.003;0.003|.	B;B;B;B;B|.	0.14578|.	0.009;0.009;0.009;0.011;0.006|.	T|.	0.08953|.	-1.0697|.	9|.	0.31617|0.10636	T|T	0.26|0.68	-2.9288|-2.9288	5.1669|5.1669	0.15090|0.15090	0.5396:0.0:0.216:0.2444|0.5396:0.0:0.216:0.2444	.|.	488;488;645;510;578|.	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3|.	.;.;K226L_HUMAN;.;.|.	V|X	645;578;645;488;488;510|594	ENSP00000396935:A645V;ENSP00000368061:A578V;ENSP00000374558:A645V;ENSP00000437501:A510V|.	ENSP00000315633:A488V|ENSP00000368064:R594X	A|R	-|-	2|1	0|2	KIAA0226L|KIAA0226L	45815576|45815576	0.003000|0.003000	0.15002|0.15002	0.013000|0.013000	0.15412|0.15412	0.001000|0.001000	0.01503|0.01503	0.404000|0.404000	0.20999|0.20999	-0.141000|-0.141000	0.11374|0.11374	-1.871000|-1.871000	0.00553|0.00553	GCG|CGA		0.517	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		4	222	0	0	0	1	0	4	222				
RNF20	56254	broad.mit.edu	37	9	104312929	104312929	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:104312929T>C	ENST00000389120.3	+	10	1224	c.1134T>C	c.(1132-1134)acT>acC	p.T378T	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	378					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTAAGGAAACTCCAGAATATC	0.507																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1132-1134)acT>acC		ring finger protein 20, E3 ubiquitin protein ligase							199.0	190.0	193.0					9																	104312929		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312929T>C	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1134T>C	9.37:g.104312929T>C							p.T378T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1224	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	378					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1134T>C	CCDS35084.1																																																																																				0.507	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	380	0	0	0	1	0	5	380				
GRHL3	57822	broad.mit.edu	37	1	24674000	24674000	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:24674000C>A	ENST00000350501.5	+	14	1713	c.1586C>A	c.(1585-1587)gCg>gAg	p.A529E	GRHL3_ENST00000361548.4_Missense_Mutation_p.A529E|GRHL3_ENST00000236255.4_Missense_Mutation_p.A534E|GRHL3_ENST00000356046.2_Missense_Mutation_p.A483E|GRHL3_ENST00000342072.4_Missense_Mutation_p.A436E	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	529					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTGTTTGACGCGCTCATGTTG	0.577																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1585-1587)gCg>gAg		grainyhead-like 3 (Drosophila)							181.0	167.0	171.0					1																	24674000		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24674000C>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1586C>A	1.37:g.24674000C>A	ENSP00000288955:p.Ala529Glu					GRHL3_ENST00000350501.5_Missense_Mutation_p.A529E|GRHL3_ENST00000356046.2_Missense_Mutation_p.A483E|GRHL3_ENST00000342072.4_Missense_Mutation_p.A436E|GRHL3_ENST00000236255.4_Missense_Mutation_p.A534E	p.A529E	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	14	1816	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	529					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1586C>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001855	0.93227	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19105	2.32;2.17;2.29;2.33;2.31	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.15723	-1.0427	10	0.59425	D	0.04	-40.0556	18.664	0.91481	0.0:1.0:0.0:0.0	.	483;534;529	A2A297;Q8TE85-2;G3XAF0	.;.;.	E	529;436;529;483;534	ENSP00000354943:A529E;ENSP00000340543:A436E;ENSP00000288955:A529E;ENSP00000348333:A483E;ENSP00000236255:A534E	ENSP00000236255:A534E	A	+	2	0	GRHL3	24546587	1.000000	0.71417	0.983000	0.44433	0.763000	0.43281	7.487000	0.81328	2.657000	0.90304	0.591000	0.81541	GCG		0.577	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		4	80	1	0	0.00024832	1	0.000261389	4	80				
RNASE4	6038	broad.mit.edu	37	14	21167618	21167618	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:21167618G>A	ENST00000555835.1	+	2	764	c.88G>A	c.(88-90)Gat>Aat	p.D30N	RNASE4_ENST00000555597.1_Missense_Mutation_p.D30N|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000304704.4_Missense_Mutation_p.D30N|RNASE4_ENST00000397995.2_Missense_Mutation_p.D30N	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	30					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CTATGGCCAGGATGGCATGTA	0.562																																					Esophageal Squamous(59;1059 1362 26290 51151)	ENST00000555835.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(88-90)Gat>Aat		ribonuclease, RNase A family, 4							103.0	94.0	97.0					14																	21167618		2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167618G>A	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.88G>A	14.37:g.21167618G>A	ENSP00000452245:p.Asp30Asn					RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.D30N|AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.D30N|RNASE4_ENST00000397995.2_Missense_Mutation_p.D30N	p.D30N	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	764	+	all_cancers(95;0.00304)		30						Missense_Mutation	SNP	ENST00000555835.1	37	c.88G>A	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986888	0.18889	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.73	-4.02	0.04034	Ribonuclease A, domain (3);	1.190040	0.05719	N	0.597260	T	0.67287	0.2877	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50048	-0.8873	10	0.46703	T	0.11	0.0921	3.4037	0.07333	0.4568:0.1052:0.3311:0.1068	.	30	P34096	RNAS4_HUMAN	N	30	ENSP00000452245:D30N;ENSP00000381081:D30N;ENSP00000451624:D30N;ENSP00000381087:D30N;ENSP00000307096:D30N;ENSP00000381085:D30N	ENSP00000307096:D30N	D	+	1	0	AL163636.2;RNASE4	20237458	0.003000	0.15002	0.001000	0.08648	0.204000	0.24138	-0.404000	0.07205	-0.911000	0.03843	-2.053000	0.00404	GAT		0.562	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			6	354	0	0	0	1	0	6	354				
RUFY1	80230	broad.mit.edu	37	5	179004074	179004074	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:179004074A>T	ENST00000319449.4	+	6	840		c.e6-1		RUFY1_ENST00000437570.2_Splice_Site|RUFY1_ENST00000377001.2_Splice_Site|RUFY1_ENST00000393438.2_Splice_Site	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1						endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTCGTTTAGGTTGGAGTA	0.313										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.e6-1		RUN and FYVE domain containing 1							167.0	158.0	161.0					5																	179004074		2203	4300	6503	SO:0001630	splice_region_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179004074A>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.829-1A>T	5.37:g.179004074A>T		HNSCC(44;0.11)				RUFY1_ENST00000319449.4_Splice_Site|RUFY1_ENST00000393438.2_Splice_Site|RUFY1_ENST00000437570.2_Splice_Site				Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	828	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)						Q59FF3|Q71S93|Q9H6I3	Splice_Site	SNP	ENST00000319449.4	37		CCDS4445.2	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768126	0.31320	.	.	ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438;ENST00000508609	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4748	0.75468	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUFY1	178936680	1.000000	0.71417	0.948000	0.38648	0.154000	0.21943	8.427000	0.90275	2.131000	0.65755	0.525000	0.51046	.		0.313	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	Intron	5	161	0	0	0	1	0	5	161				
DNAH3	55567	broad.mit.edu	37	16	21123085	21123085	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:21123085G>T	ENST00000261383.3	-	14	1960	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	654	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S654C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGTTCATGGATGCAATTTC	0.458																																						ENST00000261383.3																			2	Substitution - Missense(2)	p.S654C(2)	upper_aerodigestive_tract(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1960-1962)tCc>tAc		dynein, axonemal, heavy chain 3							169.0	130.0	143.0					16																	21123085		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21123085G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1961C>A	16.37:g.21123085G>T	ENSP00000261383:p.Ser654Tyr					DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	14	1960	-			654			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1961C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	5.790	0.330002	0.10956	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.24151	1.87;2.02	5.62	5.62	0.85841	.	0.000000	0.43919	D	0.000516	T	0.43590	0.1254	L	0.58810	1.83	0.53688	D	0.999979	B;D	0.53151	0.046;0.958	B;P	0.56163	0.011;0.793	T	0.12502	-1.0545	10	0.46703	T	0.11	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	654;594	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Y	654;654;594	ENSP00000261383:S654Y;ENSP00000394245:S654Y	ENSP00000261383:S654Y	S	-	2	0	DNAH3	21030586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.781000	0.62389	2.652000	0.90054	0.585000	0.79938	TCC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		69	124	1	0	5.12816e-46	1	5.92228e-46	69	124				
GALNT3	2591	broad.mit.edu	37	2	166611170	166611170	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:166611170A>T	ENST00000392701.3	-	9	2368	c.1593T>A	c.(1591-1593)atT>atA	p.I531I	GALNT3_ENST00000409882.1_Silent_p.I269I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	531	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTATACATAATTAATGGTT	0.368																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1591-1593)atT>atA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							100.0	95.0	97.0					2																	166611170		2203	4300	6503	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611170A>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1593T>A	2.37:g.166611170A>T						GALNT3_ENST00000409882.1_Silent_p.I269I	p.I531I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			9	2368	-			531			Ricin B-type lectin.		Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1593T>A	CCDS2226.1																																																																																				0.368	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		31	64	0	0	0	1	0	31	64				
IFNA21	3452	broad.mit.edu	37	9	21166058	21166058	+	Nonsense_Mutation	SNP	A	A	T	rs142245609		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:21166058A>T	ENST00000380225.1	-	1	601	c.554T>A	c.(553-555)tTa>tAa	p.L185*		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	185					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTCCTCCTTAATCTTTCTTG	0.378																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(553-555)tTa>tAa		interferon, alpha 21		A	stop/LEU	0,4406		0,0,2203	132.0	131.0	131.0		554	1.4	0.0	9	dbSNP_134	131	1,8599		0,1,4299	no	stop-gained	IFNA21	NM_002175.2		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		185/190	21166058	1,13005	2203	4300	6503	SO:0001587	stop_gained	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166058A>T		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.554T>A	9.37:g.21166058A>T	ENSP00000369574:p.Leu185*						p.L185*	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	601	-			185					Q14608|Q5VWD1|Q7M4Q4	Nonsense_Mutation	SNP	ENST00000380225.1	37	c.554T>A	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	13.62	2.292102	0.40594	0.0	1.16E-4	ENSG00000137080	ENST00000380225	.	.	.	3.8	1.35	0.21983	.	0.420067	0.20233	N	0.096447	.	.	.	.	.	.	0.21105	N	0.999781	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.4877	0.04602	0.5107:0.2868:0.2025:0.0	.	.	.	.	X	185	.	ENSP00000369574:L185X	L	-	2	0	IFNA21	21156058	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.060000	0.14342	0.522000	0.28464	0.524000	0.50904	TTA		0.378	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		4	146	0	0	0	1	0	4	146				
ATP13A5	344905	broad.mit.edu	37	3	193068950	193068950	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:193068950G>A	ENST00000342358.4	-	7	764	c.647C>T	c.(646-648)aCt>aTt	p.T216I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCCACAAAGTTAGGGTGAA	0.403																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(646-648)aCt>aTt		ATPase type 13A5							139.0	130.0	133.0					3																	193068950		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193068950G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.647C>T	3.37:g.193068950G>A	ENSP00000341942:p.Thr216Ile						p.T216I	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	7	764	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		216					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.647C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.729	0.916293	0.17907	.	.	ENSG00000187527	ENST00000342358	D	0.86497	-2.13	5.26	3.47	0.39725	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.265069	0.32836	N	0.005585	T	0.67382	0.2887	N	0.03304	-0.355	0.37294	D	0.908387	B	0.28258	0.205	B	0.35114	0.196	T	0.62784	-0.6781	10	0.02654	T	1	-1.7452	5.7714	0.18255	0.1742:0.1601:0.6656:0.0	.	216	Q4VNC0	AT135_HUMAN	I	216	ENSP00000341942:T216I	ENSP00000341942:T216I	T	-	2	0	ATP13A5	194551644	0.214000	0.23563	0.979000	0.43373	0.951000	0.60555	1.130000	0.31393	0.732000	0.32470	-0.136000	0.14681	ACT		0.403	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		31	254	0	0	0	1	0	31	254				
HSPA12A	259217	broad.mit.edu	37	10	118434631	118434631	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:118434631C>G	ENST00000369209.3	-	12	1793	c.1689G>C	c.(1687-1689)tgG>tgC	p.W563C	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	563						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGTCGGTGCACCACCGAGTGC	0.642																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1687-1689)tgG>tgC		heat shock 70kDa protein 12A							47.0	54.0	52.0					10																	118434631		2132	4226	6358	SO:0001583	missense	259217						ATP binding	g.chr10:118434631C>G	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1689G>C	10.37:g.118434631C>G	ENSP00000358211:p.Trp563Cys						p.W563C	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1793	-			563						Missense_Mutation	SNP	ENST00000369209.3	37	c.1689G>C	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283595	0.80803	.	.	ENSG00000165868	ENST00000369209	T	0.46063	0.88	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69331	-0.5173	10	0.66056	D	0.02	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	563	O43301	HS12A_HUMAN	C	563	ENSP00000358211:W563C	ENSP00000358211:W563C	W	-	3	0	HSPA12A	118424621	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	TGG		0.642	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		57	27	0	0	0	1	0	57	27				
RBBP6	5930	broad.mit.edu	37	16	24583108	24583108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24583108T>A	ENST00000319715.4	+	18	5153	c.4721T>A	c.(4720-4722)tTa>tAa	p.L1574*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L1540*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.L734*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1574					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGCATGTATTAGAAGCAAGG	0.358																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4720-4722)tTa>tAa		retinoblastoma binding protein 6							72.0	69.0	70.0					16																	24583108		2197	4299	6496	SO:0001587	stop_gained	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583108T>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4721T>A	16.37:g.24583108T>A	ENSP00000317872:p.Leu1574*					RBBP6_ENST00000381039.3_Nonsense_Mutation_p.L734*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L1540*	p.L1574*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5153	+			1574					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	ENST00000319715.4	37	c.4721T>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886526	0.91814	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	.	.	.	5.93	-0.994	0.10225	.	0.832999	0.10441	N	0.674336	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.155	12.0126	0.53297	0.0:0.671:0.0:0.329	.	.	.	.	X	734;1574;1540	.	ENSP00000317872:L1574X	L	+	2	0	RBBP6	24490609	0.000000	0.05858	0.115000	0.21578	0.974000	0.67602	0.315000	0.19451	-0.146000	0.11274	0.455000	0.32223	TTA		0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		4	146	0	0	0	1	0	4	146				
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e12-1		retinoic acid induced 14							103.0	93.0	96.0					5																	34814686		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814686A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.853-1A>T	5.37:g.34814686A>T						RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			12	1139	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147539	0.77888	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34850443	1.000000	0.71417	0.989000	0.46669	0.830000	0.47004	6.041000	0.70988	2.367000	0.80283	0.528000	0.53228	.		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	4	54	0	0	0	1	0	4	54				
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T	rs200623505		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.e3-1		PHD finger protein 3							84.0	85.0	84.0					6																	64389899		2203	4300	6503	SO:0001630	splice_region_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64389899A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.245-1A>T	6.37:g.64389899A>T						PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site				Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	584	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)							A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	ENST00000262043.3	37		CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369739	0.61624	.	.	ENSG00000118482	ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.87	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0911	0.48117	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64447858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.923000	0.63412	1.053000	0.40415	0.482000	0.46254	.		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		Intron	5	82	0	0	0	1	0	5	82				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			55073							g.chr17:43587657C>T	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.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	49	0	0	0	1	0	3	49				
TAF1L	138474	broad.mit.edu	37	9	32632561	32632561	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32632561G>A	ENST00000242310.4	-	1	3106	c.3017C>T	c.(3016-3018)aCa>aTa	p.T1006I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1006					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTGTCACTGTCTTCTTCAC	0.453																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3016-3018)aCa>aTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							266.0	243.0	250.0					9																	32632561		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632561G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3017C>T	9.37:g.32632561G>A	ENSP00000418379:p.Thr1006Ile						p.T1006I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3106	-			1006					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3017C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251161	0.59212	.	.	ENSG00000122728	ENST00000242310	T	0.14266	2.52	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.045544	0.85682	D	0.000000	T	0.12178	0.0296	L	0.45744	1.44	0.50039	D	0.999848	P	0.46859	0.885	B	0.44224	0.444	T	0.07214	-1.0784	10	0.45353	T	0.12	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1006	Q8IZX4	TAF1L_HUMAN	I	1006	ENSP00000418379:T1006I	ENSP00000418379:T1006I	T	-	2	0	TAF1L	32622561	1.000000	0.71417	0.985000	0.45067	0.687000	0.40016	4.441000	0.59981	0.507000	0.28148	0.195000	0.17529	ACA		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			13	439	0	0	0	1	0	13	439				
ARNTL	406	broad.mit.edu	37	11	13375946	13375946	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:13375946A>G	ENST00000403290.1	+	5	446	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|RN7SKP151_ENST00000410230.1_RNA|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000389708.3_Missense_Mutation_p.S31G			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	31					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTTGGTACCAGTGGTGTGGA	0.512																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(91-93)Agt>Ggt		aryl hydrocarbon receptor nuclear translocator-like							87.0	75.0	79.0					11																	13375946		2200	4294	6494	SO:0001583	missense	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13375946A>G	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.91A>G	11.37:g.13375946A>G	ENSP00000384517:p.Ser31Gly					ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403290.1_Missense_Mutation_p.S31G|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G|ARNTL_ENST00000403510.3_5'UTR	p.S31G			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	5	446	+			31					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37	c.91A>G		.	.	.	.	.	.	.	.	.	.	A	8.949	0.967792	0.18659	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000389707;ENST00000529388;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000531665	T;T;T;T;T;T	0.46063	3.08;3.08;0.88;3.08;2.72;3.05	5.71	0.571	0.17352	.	0.430351	0.27866	N	0.017527	T	0.18299	0.0439	N	0.12182	0.205	0.23126	N	0.998257	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15206	-1.0445	9	.	.	.	.	4.5732	0.12219	0.5026:0.0:0.329:0.1684	.	31;31	O00327;O00327-8	BMAL1_HUMAN;.	G	31	ENSP00000379718:S31G;ENSP00000374357:S31G;ENSP00000433571:S31G;ENSP00000384517:S31G;ENSP00000354278:S31G;ENSP00000374358:S31G	.	S	+	1	0	ARNTL	13332522	0.976000	0.34144	0.237000	0.24090	0.606000	0.37113	0.492000	0.22435	-0.140000	0.11394	0.533000	0.62120	AGT		0.512	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		53	205	0	0	0	1	0	53	205				
DMXL2	23312	broad.mit.edu	37	15	51791649	51791649	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:51791649C>G	ENST00000251076.5	-	18	4059	c.3772G>C	c.(3772-3774)Ggg>Cgg	p.G1258R	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1258						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.G1258W(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCAATATCCCATCTCTTACC	0.413																																						ENST00000251076.5																			1	Substitution - Missense(1)	p.G1258W(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3772-3774)Ggg>Cgg		Dmx-like 2							182.0	168.0	173.0					15																	51791649		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791649C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3772G>C	15.37:g.51791649C>G	ENSP00000251076:p.Gly1258Arg					DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R|DMXL2_ENST00000449909.3_Intron	p.G1258R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4059	-			1258					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3772G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056144	0.76074	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.52983	0.64;0.64	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75915	-0.3149	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	1258;1258	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	R	1258	ENSP00000251076:G1258R;ENSP00000441858:G1258R	ENSP00000251076:G1258R	G	-	1	0	DMXL2	49578941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.588000	0.87417	0.591000	0.81541	GGG		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		237	176	0	0	0	1	0	237	176				
KCNB2	9312	broad.mit.edu	37	8	73849825	73849825	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:73849825G>T	ENST00000523207.1	+	3	2823	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGACTTTTCGCTCACTACCC	0.567																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2233-2235)tcG>tcT		potassium voltage-gated channel, Shab-related subfamily, member 2							107.0	114.0	111.0					8																	73849825		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849825G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2235G>T	8.37:g.73849825G>T							p.S745S	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2823	+	Breast(64;0.137)		745					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.2235G>T	CCDS6209.1																																																																																				0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	262	1	0	3.59834e-05	1	3.8151e-05	5	262				
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667																																						ENST00000394014.1																			2	Substitution - coding silent(2)	p.C96C(2)	large_intestine(1)|endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(286-288)tgC>tgT		keratin associated protein 4-12							31.0	36.0	34.0					17																	39280087		2139	4174	6313	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39280087G>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.288C>T	17.37:g.39280087G>A							p.C96C	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	332	-		Breast(137;0.000496)	96			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.288C>T	CCDS32649.1																																																																																				0.667	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			4	113	0	0	0	1	0	4	113				
ZNF451	26036	broad.mit.edu	37	6	57013213	57013213	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:57013213A>C	ENST00000370706.4	+	10	2574	c.2330A>C	c.(2329-2331)aAa>aCa	p.K777T	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAGTGCACAAAGAAAAGAGT	0.438																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aAa>aCa		zinc finger protein 451							99.0	89.0	92.0					6																	57013213		2202	4300	6502	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013213A>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2330A>C	6.37:g.57013213A>C	ENSP00000359740:p.Lys777Thr					RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	p.K777T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2574	+	Lung NSC(77;0.145)		777					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2330A>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	7.320	0.616782	0.14129	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18338	3.27;2.22;3.27	4.91	-1.76	0.08006	.	1.531430	0.03335	N	0.193965	T	0.03011	0.0089	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.36696	-0.9737	10	0.21014	T	0.42	1.0669	0.2367	0.00187	0.2785:0.2679:0.1511:0.3025	.	777;777;777;777	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	T	777	ENSP00000359740:K777T;ENSP00000350083:K777T;ENSP00000421645:K777T	ENSP00000350083:K777T	K	+	2	0	ZNF451	57121172	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-0.235000	0.09016	-0.136000	0.11475	0.528000	0.53228	AAA		0.438	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		12	38	0	0	0	1	0	12	38				
OR2A25	392138	broad.mit.edu	37	7	143771624	143771624	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:143771624G>T	ENST00000408898.2	+	1	350	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTGTTTTTGAGTTTTGCAC	0.532																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(310-312)ttG>ttT		olfactory receptor, family 2, subfamily A, member 25							88.0	95.0	92.0					7																	143771624		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771624G>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.312G>T	7.37:g.143771624G>T	ENSP00000386167:p.Leu104Phe						p.L104F	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	350	+	Melanoma(164;0.0783)		104					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.312G>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286881	0.40494	.	.	ENSG00000221933	ENST00000408898	T	0.00560	6.6	4.88	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	L	0.56769	1.78	0.09310	N	0.999999	D	0.61697	0.99	P	0.58266	0.836	T	0.52109	-0.8619	9	0.52906	T	0.07	-7.1464	11.3472	0.49567	0.0899:0.0:0.9101:0.0	.	104	A4D2G3	O2A25_HUMAN	F	104	ENSP00000386167:L104F	ENSP00000386167:L104F	L	+	3	2	OR2A25	143402557	0.001000	0.12720	0.568000	0.28447	0.533000	0.34776	0.363000	0.20301	1.244000	0.43870	0.563000	0.77884	TTG		0.532	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			6	454	1	0	1.6384e-10	1	1.7844e-10	6	454				
RP11-24M17.5	0	broad.mit.edu	37	15	76075500	76075500	+	RNA	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:76075500G>A	ENST00000395215.3	+	0	1140				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgcgaaaggaggag	0.607																																						ENST00000395215.3																			0																																																			0							g.chr15:76075500G>A																													15.37:g.76075500G>A														0	1140	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	107	0	0	0	1	0	5	107				
ENHO	375704	broad.mit.edu	37	9	34521629	34521629	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:34521629A>C	ENST00000399775.2	-	2	490	c.65T>G	c.(64-66)tTg>tGg	p.L22W	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	22						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						CAGCAGCAGCAAGAAGCCCAC	0.632																																						ENST00000399775.2																			0				endometrium(1)|lung(1)	2						c.(64-66)tTg>tGg		energy homeostasis associated							49.0	65.0	60.0					9																	34521629		2193	4281	6474	SO:0001583	missense	375704					extracellular region		g.chr9:34521629A>C	BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.65T>G	9.37:g.34521629A>C	ENSP00000382675:p.Leu22Trp					RP11-296L22.8_ENST00000439960.1_RNA	p.L22W	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN			2	490	-			22					Q8N666	Missense_Mutation	SNP	ENST00000399775.2	37	c.65T>G	CCDS43795.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607487	0.46527	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	4.46	4.46	0.54185	.	0.000000	0.31542	N	0.007471	T	0.64438	0.2598	.	.	.	0.26634	N	0.972413	D	0.76494	0.999	D	0.78314	0.991	T	0.58584	-0.7611	8	0.87932	D	0	.	10.0515	0.42219	1.0:0.0:0.0:0.0	.	22	Q6UWT2	ENHO_HUMAN	W	22	.	ENSP00000305955:L22W	L	-	2	0	ENHO	34511629	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.609000	0.67661	1.874000	0.54306	0.374000	0.22700	TTG		0.632	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356348.1	NM_198573		12	21	0	0	0	1	0	12	21				
AAK1	22848	broad.mit.edu	37	2	69708094	69708094	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:69708094C>A	ENST00000409085.4	-	19	2844		c.e19-1		AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCAGCTTTTTCTTTCGTAACA	0.453																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.e19-1		AP2 associated kinase 1							47.0	52.0	51.0					2																	69708094		1861	4097	5958	SO:0001630	splice_region_variant	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69708094C>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2468-1G>T	2.37:g.69708094C>A						AAK1_ENST00000409068.1_Intron		NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			19	2844	-								Q4ZFZ3|Q53RX6|Q9UPV4	Splice_Site	SNP	ENST00000409085.4	37		CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921932	0.73213	.	.	ENSG00000115977	ENST00000409085	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.908	0.86133	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AAK1	69561598	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.905000	0.63286	2.463000	0.83235	0.585000	0.79938	.		0.453	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	Intron	3	39	1	0	0.115264	1	0.116589	3	39				
ZNF618	114991	broad.mit.edu	37	9	116811976	116811976	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:116811976G>A	ENST00000374126.5	+	15	2493	c.2394G>A	c.(2392-2394)gtG>gtA	p.V798V	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.V705V			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTTCAAGGTGCACCCGGCCC	0.622																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2113-2115)gtG>gtA		zinc finger protein 618							47.0	53.0	51.0					9																	116811976		2097	4228	6325	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811976G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2394G>A	9.37:g.116811976G>A						ZNF618_ENST00000374126.5_Silent_p.V798V|ZNF618_ENST00000470105.1_3'UTR	p.V705V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2214	+			798					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.2115G>A																																																																																					0.622	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		13	273	0	0	0	1	0	13	273				
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2173-2175)Taa>Aaa		La ribonucleoprotein domain family, member 4							42.0	43.0	42.0					12																	50869645		1874	4108	5982	SO:0001578	stop_lost	113251						nucleotide binding|RNA binding	g.chr12:50869645T>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2173T>A	12.37:g.50869645T>A	ENSP00000381490:p.*725Lysext*81					LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	p.*725K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	2285	+			0					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonstop_Mutation	SNP	ENST00000398473.2	37	c.2173T>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942821	0.53079	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.337	0.55073	0.0:0.0:0.141:0.859	.	.	.	.	K	654;731;725;724;606;654	.	.	X	+	1	0	LARP4	49155912	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.694000	0.54742	2.202000	0.70862	0.523000	0.50628	TAA		0.448	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		6	64	0	0	0	1	0	6	64				
DCTN5	84516	broad.mit.edu	37	16	23672509	23672509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:23672509A>T	ENST00000300087.2	+	4	406	c.255A>T	c.(253-255)ttA>ttT	p.L85F	DCTN5_ENST00000563998.1_Missense_Mutation_p.L85F|DCTN5_ENST00000568589.1_Missense_Mutation_p.L85F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	85					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TCTTTCCTTTACATATTGGAG	0.383																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.(253-255)ttA>ttT		dynactin 5 (p25)							268.0	216.0	233.0					16																	23672509		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23672509A>T		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.255A>T	16.37:g.23672509A>T	ENSP00000300087:p.Leu85Phe					DCTN5_ENST00000568589.1_Missense_Mutation_p.L85F|DCTN5_ENST00000563998.1_Missense_Mutation_p.L85F	p.L85F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	406	+			85					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.255A>T	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973174	0.34848	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.87	0.882	0.19172	Trimeric LpxA-like (1);	0.130888	0.51477	D	0.000098	T	0.72851	0.3512	M	0.92649	3.33	0.80722	D	1	P	0.36616	0.561	P	0.47941	0.562	T	0.70648	-0.4814	9	0.72032	D	0.01	-12.4	5.1609	0.15060	0.613:0.144:0.243:0.0	.	85	Q9BTE1	DCTN5_HUMAN	F	85	.	ENSP00000300087:L85F	L	+	3	2	DCTN5	23580010	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.214000	0.20742	0.533000	0.62120	TTA		0.383	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		4	169	0	0	0	1	0	4	169				
SNRPB	6628	broad.mit.edu	37	20	2448399	2448399	+	Silent	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:2448399C>A	ENST00000438552.2	-	2	171	c.9G>T	c.(7-9)gtG>gtT	p.V3V	RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.G104W|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Silent_p.V3V	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	3					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCTCTTGCCCACCGTCTGCA	0.532																																						ENST00000461548.1																			0											c.(310-312)Ggg>Tgg									114.0	99.0	104.0					20																	2448399		2203	4300	6503	SO:0001819	synonymous_variant	6628							g.chr20:2448399C>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.9G>T	20.37:g.2448399C>A						SNRPB_ENST00000381342.2_Silent_p.V3V|SNRPB_ENST00000438552.2_Silent_p.V3V|SNRPB_ENST00000339610.6_5'UTR	p.G104W							6	572	-								Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.310G>T	CCDS13026.1																																																																																				0.532	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			109	280	1	0	2.12867e-53	1	2.47128e-53	109	280				
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448																																						ENST00000369219.1																			2	Substitution - Missense(2)	p.E481D(1)|p.K476Q(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1426-1428)Aag>Cag		neuroblastoma breakpoint family, member 14		T	GLN/LYS	149,1589		11,127,731	3.0	3.0	3.0		1426		0.0	1	dbSNP_134	3	199,3727		1,197,1765	no	missense	NBPF14	NM_015383.1	53	12,324,2496	GG,GT,TT		5.0688,8.5731,6.1441	benign	476/922	148012533	348,5316	869	1963	2832	SO:0001583	missense	25832					cytoplasm		g.chr1:148012533T>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1426A>C	1.37:g.148012533T>G	ENSP00000358221:p.Lys476Gln						p.K476Q			Q5TI25	NBPFE_HUMAN			12	1442	-	all_hematologic(923;0.032)		476			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1426A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	0.001|0.001	-3.636353|-3.636353	0.00007|0.00007	0.085731|0.085731	0.050688|0.050688	ENSG00000122497|ENSG00000122497	ENST00000310701;ENST00000392972;ENST00000426874|ENST00000369219;ENST00000434489	.|T	.|0.05199	.|3.48	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00468|0.00468	0.0015|0.0015	N|N	0.00104|0.00104	-2.125|-2.125	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.43431	.|0.001;0.005;0.807	.|B;B;P	.|0.53518	.|0.01;0.023;0.728	T|T	0.31138|0.31138	-0.9954|-0.9954	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|143;590;476	.|E7EWM5;Q8IX74;Q5TI25	.|.;.;NBPFE_HUMAN	N|Q	481;486;486|476;141	.|ENSP00000358221:K476Q	.|ENSP00000358221:K476Q	K|K	-|-	3|1	2|0	NBPF14|NBPF14	146479157|146479157	0.953000|0.953000	0.32496|0.32496	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-1.318000|-1.318000	0.02705|0.02705	-1.050000|-1.050000	0.03230|0.03230	-1.115000|-1.115000	0.02055|0.02055	AAA|AAG		0.448	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		17	2492	0	0	0	1	0	17	2492				
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(571-573)gCc>gTc		sulfatase modifying factor 2							80.0	82.0	81.0					7																	56142409		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142409C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.515C>T	7.37:g.56142409C>T	ENSP00000406445:p.Ala172Val		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000395435.2_Intron	p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	603	+	Breast(14;0.214)		172					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		4	323	0	0	0	1	0	4	323				
SNHG14	104472715	broad.mit.edu	37	15	25417853	25417853	+	RNA	SNP	T	T	C	rs200514049	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:25417853T>C	ENST00000441592.2	+	0	0				SNORD115-3_ENST00000363100.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		AATAGGATTATGCTGAGGCCC	0.522													T|||	8	0.00159744	0.003	0.0043	5008	,	,		20282	0.0		0.001	False		,,,				2504	0.0					ENST00000549301.1																			0															T		2,1750		0,2,874	267.0	279.0	275.0			-1.2	0.1	15		275	4,3974		0,4,1985	no	intergenic				0,6,2859	CC,CT,TT		0.1006,0.1142,0.1047			25417853	6,5724	876	1989	2865			104472715							g.chr15:25417853T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417853T>C						SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA								0	503	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.522	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			5	58	0	0	0	1	0	5	58				
WEE2	494551	broad.mit.edu	37	7	141429434	141429434	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:141429434C>T	ENST00000397541.2	+	11	2045	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	547					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACAAAACGCCTGGTGGGAGG	0.542																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1639-1641)Ctg>Ttg		WEE1 homolog 2 (S. pombe)							83.0	82.0	82.0					7																	141429434		1877	4115	5992	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141429434C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1639C>T	7.37:g.141429434C>T						WEE2-AS1_ENST00000488785.1_RNA	p.L547L	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			11	2045	+	Melanoma(164;0.0171)		547						Silent	SNP	ENST00000397541.2	37	c.1639C>T	CCDS43660.1																																																																																				0.542	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		7	279	0	0	0	1	0	7	279				
IFT140	9742	broad.mit.edu	37	16	1652508	1652508	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:1652508C>T	ENST00000426508.2	-	4	595	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	78					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCCCAGCCCACAGCCAGCACC	0.617																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(232-234)Gtg>Atg		intraflagellar transport 140 homolog (Chlamydomonas)							104.0	81.0	89.0					16																	1652508		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1652508C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.232G>A	16.37:g.1652508C>T	ENSP00000406012:p.Val78Met					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.V78M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			4	595	-		Hepatocellular(780;0.219)	78					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.232G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665696	0.14710	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.56444	0.46;1.34	4.82	-9.65	0.00537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.078490	0.07027	N	0.827764	T	0.40145	0.1105	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.17433	0.018	T	0.37686	-0.9695	10	0.42905	T	0.14	.	12.1609	0.54103	0.0:0.6202:0.1717:0.2081	.	78	Q96RY7	IF140_HUMAN	M	78	ENSP00000380562:V78M;ENSP00000406012:V78M	ENSP00000380562:V78M	V	-	1	0	IFT140	1592509	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-2.177000	0.01261	-3.112000	0.00241	-4.347000	0.00007	GTG		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		47	107	0	0	0	1	0	47	107				
USH2A	7399	broad.mit.edu	37	1	216380760	216380760	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:216380760T>G	ENST00000307340.3	-	16	3557	c.3171A>C	c.(3169-3171)caA>caC	p.Q1057H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1057H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1057					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGCGGAGGTTGCTGGAATG	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3169-3171)caA>caC		Usher syndrome 2A (autosomal recessive, mild)							129.0	130.0	129.0					1																	216380760		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216380760T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3171A>C	1.37:g.216380760T>G	ENSP00000305941:p.Gln1057His	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1057H	p.Q1057H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	16	3557	-			1057					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3171A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630674	0.67015	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84730	-1.89;0.6;0.6	5.96	4.84	0.62591	Fibronectin, type III (1);	0.000000	0.42548	D	0.000696	D	0.91195	0.7226	M	0.82517	2.595	0.50467	D	0.999877	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.89161	0.3530	10	0.15066	T	0.55	.	12.0076	0.53268	0.0:0.0673:0.0:0.9327	.	1057;1057	O75445-2;O75445	.;USH2A_HUMAN	H	1057	ENSP00000305941:Q1057H;ENSP00000355910:Q1057H;ENSP00000355909:Q1057H	ENSP00000305941:Q1057H	Q	-	3	2	USH2A	214447383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.499000	0.35671	1.080000	0.41073	-0.256000	0.11100	CAA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		104	278	0	0	0	1	0	104	278				
ACTB	60	broad.mit.edu	37	7	5567392	5567392	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5567392C>T	ENST00000331789.5	-	6	1306	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	372					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAAGCATTTGCGGTGGACGAT	0.522																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(1114-1116)cGc>cAc		actin, beta							125.0	130.0	128.0					7																	5567392		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567392C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1115G>A	7.37:g.5567392C>T	ENSP00000349960:p.Arg372His					ACTB_ENST00000464611.1_5'UTR	p.R372H	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	6	1306	-		Ovarian(82;0.0606)	372					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1115G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329700	0.41297	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95238	-3.65	5.66	4.79	0.61399	.	0.000000	0.64402	D	0.000012	D	0.97607	0.9216	H	0.94658	3.565	0.43435	D	0.995601	P	0.50819	0.939	P	0.60345	0.873	D	0.98327	1.0531	10	0.87932	D	0	.	13.7298	0.62781	0.0:0.9263:0.0:0.0737	.	372	P60709	ACTB_HUMAN	H	372;348;344;291	ENSP00000349960:R372H	ENSP00000440549:R291H	R	-	2	0	ACTB	5533918	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.536000	0.82023	1.418000	0.47098	-0.141000	0.14075	CGC		0.522	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		5	888	0	0	0	1	0	5	888				
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)cgG>cgA		chondroitin sulfate proteoglycan 5 (neuroglycan C)							94.0	97.0	96.0					3																	47618421		2203	4299	6502	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618421C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1095G>A	3.37:g.47618421C>T						CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3193	-			365					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1095G>A	CCDS56253.1																																																																																				0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		4	77	0	0	0	1	0	4	77				
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						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						TTTTGGTTCTAGTTCCTTAAT	0.398																																						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.e7-1		ATP-binding cassette, sub-family A (ABC1), member 13							164.0	166.0	165.0					7																	48269420		1870	4103	5973	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48269420A>T	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.633-1A>T	7.37:g.48269420A>T								NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			7	656	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590645	0.66219	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3816	0.55309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48239966	0.994000	0.37717	0.086000	0.20670	0.945000	0.59286	4.593000	0.61034	2.182000	0.69389	0.533000	0.62120	.		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	5	410	0	0	0	1	0	5	410				
LRRK2	120892	broad.mit.edu	37	12	40677921	40677921	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:40677921T>A	ENST00000298910.7	+	19	2544	c.2486T>A	c.(2485-2487)tTa>tAa	p.L829*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.L829*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	829					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTTCTAATTTAAGGAAACAA	0.318																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2485-2487)tTa>tAa		leucine-rich repeat kinase 2							76.0	83.0	81.0					12																	40677921		2203	4300	6503	SO:0001587	stop_gained	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40677921T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2486T>A	12.37:g.40677921T>A	ENSP00000298910:p.Leu829*					LRRK2_ENST00000343742.2_Nonsense_Mutation_p.L829*	p.L829*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			19	2544	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	829					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.2486T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	36	5.635112	0.96682	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.05	2.56	0.30785	.	0.644172	0.15272	N	0.271163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3198	0.32121	0.0:0.2795:0.0:0.7205	.	.	.	.	X	829	.	.	L	+	2	0	LRRK2	38964188	1.000000	0.71417	0.188000	0.23233	0.677000	0.39632	2.243000	0.43115	0.305000	0.22832	0.482000	0.46254	TTA		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	112	0	0	0	1	0	5	112				
SMARCAD1	56916	broad.mit.edu	37	4	95158101	95158101	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:95158101A>T	ENST00000354268.4	+	5	610		c.e5-1		SMARCAD1_ENST00000457823.2_Splice_Site			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCGTTCTGTTAGTTGATTGAA	0.323																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e5-1		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							125.0	116.0	119.0					4																	95158101		2203	4300	6503	SO:0001630	splice_region_variant	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95158101A>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.538-1A>T	4.37:g.95158101A>T						SMARCAD1_ENST00000457823.2_Splice_Site				Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	5	610	+								B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Splice_Site	SNP	ENST00000354268.4	37		CCDS3639.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917708	0.73098	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5008	0.50437	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCAD1	95377124	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	5.051000	0.64257	2.029000	0.59856	0.477000	0.44152	.		0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Intron	4	108	0	0	0	1	0	4	108				
NAV2	89797	broad.mit.edu	37	11	19955432	19955432	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:19955432A>G	ENST00000396087.3	+	8	1810	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	NAV2_ENST00000360655.4_Missense_Mutation_p.K484E|NAV2_ENST00000527559.2_Missense_Mutation_p.K500E|NAV2_ENST00000396085.1_Missense_Mutation_p.K548E|NAV2_ENST00000540292.1_Missense_Mutation_p.K502E|NAV2_ENST00000349880.4_Missense_Mutation_p.K548E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	571					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAAAGGGGGGAAGCTCAACAG	0.562																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1642-1644)Aag>Gag		neuron navigator 2							74.0	82.0	79.0					11																	19955432		2197	4291	6488	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955432A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1711A>G	11.37:g.19955432A>G	ENSP00000379396:p.Lys571Glu					NAV2_ENST00000360655.4_Missense_Mutation_p.K484E|NAV2_ENST00000396087.3_Missense_Mutation_p.K571E|NAV2_ENST00000527559.2_Missense_Mutation_p.K500E|NAV2_ENST00000349880.4_Missense_Mutation_p.K548E|NAV2_ENST00000540292.1_Missense_Mutation_p.K502E	p.K548E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	2003	+			571					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1642A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466240	0.84425	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.51346	0.1669	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.993;0.997	T	0.48747	-0.9008	9	.	.	.	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	548;484	Q8IVL1-3;Q8IVL1-4	.;.	E	484;548;548;571;500;502	ENSP00000353871:K484E;ENSP00000379394:K548E;ENSP00000309577:K548E;ENSP00000379396:K571E;ENSP00000435395:K500E;ENSP00000443489:K502E	.	K	+	1	0	NAV2	19912008	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.327000	0.96396	1.943000	0.56356	0.379000	0.24179	AAG		0.562	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	375	0	0	0	1	0	3	375				
ZNF70	7621	broad.mit.edu	37	22	24086429	24086429	+	Missense_Mutation	SNP	C	C	T	rs149738181	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:24086429C>T	ENST00000341976.3	-	2	1359	c.899G>A	c.(898-900)cGg>cAg	p.R300Q		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGTGTGGATCCGCTGGTGTCG	0.552																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(898-900)cGg>cAg		zinc finger protein 70		C	GLN/ARG	0,4406		0,0,2203	104.0	93.0	97.0		899	3.3	1.0	22	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF70	NM_021916.2	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	300/447	24086429	3,13003	2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086429C>T	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.899G>A	22.37:g.24086429C>T	ENSP00000339314:p.Arg300Gln						p.R300Q	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1359	-			300						Missense_Mutation	SNP	ENST00000341976.3	37	c.899G>A	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463976	0.63513	0.0	3.49E-4	ENSG00000187792	ENST00000341976	T	0.02369	4.32	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07954	0.0199	M	0.63169	1.94	0.24027	N	0.996121	D	0.76494	0.999	P	0.56127	0.792	T	0.18935	-1.0321	9	0.72032	D	0.01	-24.3398	6.7019	0.23230	0.0:0.8724:0.0:0.1276	.	300	Q9UC06	ZNF70_HUMAN	Q	300	ENSP00000339314:R300Q	ENSP00000339314:R300Q	R	-	2	0	ZNF70	22416429	0.000000	0.05858	0.991000	0.47740	0.899000	0.52679	1.216000	0.32443	2.175000	0.68902	0.456000	0.33151	CGG		0.552	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		7	745	0	0	0	1	0	7	745				
GALNT14	79623	broad.mit.edu	37	2	31152299	31152299	+	Silent	SNP	G	G	A	rs147474295		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:31152299G>A	ENST00000349752.5	-	11	1752	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	GALNT14_ENST00000406653.1_Silent_p.Y351Y|GALNT14_ENST00000356174.3_Silent_p.Y338Y|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.Y336Y|GALNT14_ENST00000324589.5_Silent_p.Y376Y	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	371					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCCGGGCAGCGTAATAGTATT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20610	0.0		0.001	False		,,,				2504	0.0					ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1111-1113)taC>taT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)		G		1,4405	2.1+/-5.4	0,1,2202	154.0	132.0	139.0		1113	-3.1	0.9	2	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GALNT14	NM_024572.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		371/553	31152299	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31152299G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1113C>T	2.37:g.31152299G>A						GALNT14_ENST00000420311.2_Silent_p.Y336Y|GALNT14_ENST00000406653.1_Silent_p.Y351Y|GALNT14_ENST00000356174.3_Silent_p.Y338Y|GALNT14_ENST00000324589.5_Silent_p.Y376Y|GALNT14_ENST00000486564.1_5'UTR	p.Y371Y	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			11	1752	-	Acute lymphoblastic leukemia(172;0.155)		371					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.1113C>T	CCDS1773.2																																																																																				0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		4	360	0	0	0	1	0	4	360				
MAP2K7	5609	broad.mit.edu	37	19	7977212	7977212	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7977212C>A	ENST00000397979.3	+	11	1210	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	MAP2K7_ENST00000545011.1_Missense_Mutation_p.L428M|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	386	DVD domain.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CTACGAGACGCTGGAGGTGGA	0.652																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(1282-1284)Ctg>Atg		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						54.0	66.0	62.0					19																	7977212		2157	4245	6402	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7977212C>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1156C>A	19.37:g.7977212C>A	ENSP00000381066:p.Leu386Met					MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000397979.3_Missense_Mutation_p.L386M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M	p.L428M			O14733	MP2K7_HUMAN			11	1347	+			386					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.1282C>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556650	0.45487	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.71341	-0.43;-0.56;-0.51;-0.56	4.54	3.47	0.39725	Protein kinase-like domain (1);	0.332170	0.25708	N	0.028825	T	0.52980	0.1768	N	0.14661	0.345	0.21579	N	0.999631	P;P	0.41102	0.738;0.62	B;B	0.43889	0.435;0.252	T	0.46952	-0.9154	10	0.51188	T	0.08	-8.1728	5.8257	0.18552	0.1906:0.7091:0.0:0.1003	.	393;386	O14733-4;O14733	.;MP2K7_HUMAN	M	393;402;428;402;386	ENSP00000381068:L393M;ENSP00000381070:L402M;ENSP00000443946:L428M;ENSP00000381066:L386M	ENSP00000381066:L386M	L	+	1	2	MAP2K7	7883212	0.727000	0.28069	0.988000	0.46212	0.672000	0.39443	0.911000	0.28584	2.356000	0.79943	0.511000	0.50034	CTG		0.652	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			13	23	1	0	0.0931896	1	0.0946961	13	23				
C2orf44	80304	broad.mit.edu	37	2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)Cgg>Tgg		chromosome 2 open reading frame 44							119.0	105.0	110.0					2																	24262247		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262247G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.118C>T	2.37:g.24262247G>A	ENSP00000295148:p.Arg40Trp					C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.118C>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874935	0.17395	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.43688	3.4;3.4;0.94	5.24	3.37	0.38596	.	0.488094	0.24352	N	0.039266	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.40782	0.275;0.34	T	0.05209	-1.0899	10	0.39692	T	0.17	2.1853	7.5072	0.27551	0.1561:0.0:0.7084:0.1355	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	W	40	ENSP00000295148:R40W;ENSP00000385816:R40W;ENSP00000413426:R40W	ENSP00000295148:R40W	R	-	1	2	C2orf44	24115751	0.973000	0.33851	0.336000	0.25522	0.420000	0.31355	1.353000	0.34045	0.660000	0.30964	0.655000	0.94253	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		5	545	0	0	0	1	0	5	545				
APAF1	317	broad.mit.edu	37	12	99100261	99100261	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:99100261A>T	ENST00000551964.1	+	19	3331		c.e19-1		APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Splice_Site|APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000339433.3_Splice_Site	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTATTCTGTAGTTGTGGAAT	0.368																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.e18-1		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						223.0	190.0	201.0					12																	99100261		2203	4300	6503	SO:0001630	splice_region_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99100261A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2596-1A>T	12.37:g.99100261A>T						APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000551964.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Splice_Site		NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			18	3043	+								B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Splice_Site	SNP	ENST00000551964.1	37		CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830667	0.32329	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8352	0.63404	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APAF1	97624392	1.000000	0.71417	0.992000	0.48379	0.170000	0.22686	7.302000	0.78861	1.912000	0.55364	0.533000	0.62120	.		0.368	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Intron	8	483	0	0	0	1	0	8	483				
MFSD6	54842	broad.mit.edu	37	2	191301590	191301590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191301590T>C	ENST00000392328.1	+	3	1159	c.835T>C	c.(835-837)Tat>Cat	p.Y279H	MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	279					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATGCTTGTTTATGATCAACA	0.428																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(835-837)Tat>Cat		major facilitator superfamily domain containing 6							242.0	227.0	232.0					2																	191301590		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301590T>C		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.835T>C	2.37:g.191301590T>C	ENSP00000376141:p.Tyr279His					MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1159	+			279					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.835T>C	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150078	0.57151	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	D;D	0.81908	-1.55;-1.55	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.113338	0.64402	D	0.000007	D	0.89143	0.6631	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88192	0.2878	10	0.39692	T	0.17	-16.7878	15.8088	0.78538	0.0:0.0:0.0:1.0	.	279	Q6ZSS7	MFSD6_HUMAN	H	279	ENSP00000376141:Y279H;ENSP00000281416:Y279H	ENSP00000281416:Y279H	Y	+	1	0	MFSD6	191009835	1.000000	0.71417	0.990000	0.47175	0.357000	0.29423	8.040000	0.89188	2.330000	0.79161	0.528000	0.53228	TAT		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			231	577	0	0	0	1	0	231	577				
PRDM10	56980	broad.mit.edu	37	11	129775610	129775610	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:129775610G>T	ENST00000360871.3	-	20	3421	c.3190C>A	c.(3190-3192)Cct>Act	p.P1064T	PRDM10_ENST00000358825.5_Missense_Mutation_p.P1068T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P982T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P1025T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P931T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P969T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1055					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGACCCGGAGGAAGCGTCATC	0.438																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3202-3204)Cct>Act		PR domain containing 10							125.0	108.0	113.0					11																	129775610		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129775610G>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3190C>A	11.37:g.129775610G>T	ENSP00000354118:p.Pro1064Thr					PRDM10_ENST00000360871.3_Missense_Mutation_p.P1064T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P969T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P1025T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P931T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P982T	p.P1068T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	21	3433	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1055					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.3202C>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693497	0.88735	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.46063	1.76;0.88;1.75;1.77;1.89;1.72;1.87	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	L	0.32530	0.975	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	0.87578	0.996;0.998;0.996;0.998;0.998;0.998	T	0.58115	-0.7693	10	0.87932	D	0	-28.829	20.4777	0.99188	0.0:0.0:1.0:0.0	.	978;1064;1055;982;931;969	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	T	1068;931;1064;969;1025;982;781	ENSP00000351686:P1068T;ENSP00000302669:P931T;ENSP00000354118:P1064T;ENSP00000398431:P969T;ENSP00000431262:P1025T;ENSP00000432237:P982T;ENSP00000435940:P781T	ENSP00000302669:P931T	P	-	1	0	PRDM10	129280820	1.000000	0.71417	0.982000	0.44146	0.842000	0.47809	9.400000	0.97290	2.840000	0.97914	0.655000	0.94253	CCT		0.438	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		9	117	1	0	7.48243e-07	1	8.04956e-07	9	117				
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453																																						ENST00000258169.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(445-447)atT>atA		M-phase phosphoprotein 6							260.0	219.0	233.0					16																	82182372		2201	4300	6501	SO:0001819	synonymous_variant	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82182372A>T	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.447T>A	16.37:g.82182372A>T						MPHOSPH6_ENST00000563504.1_Silent_p.I120I	p.I149I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN			5	497	-			149					B2RAF0	Silent	SNP	ENST00000258169.4	37	c.447T>A	CCDS10937.1																																																																																				0.453	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		5	283	0	0	0	1	0	5	283				
SUGP2	10147	broad.mit.edu	37	19	19119239	19119239	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:19119239T>A	ENST00000601879.1	-	6	2636		c.e6-2		SUGP2_ENST00000337018.6_Splice_Site|SUGP2_ENST00000456085.2_Splice_Site|SUGP2_ENST00000600377.1_Splice_Site|SUGP2_ENST00000452918.2_Splice_Site			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCATGTCAACTACAAAACATA	0.473																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.e6-2		SURP and G patch domain containing 2							188.0	173.0	178.0					19																	19119239		2203	4300	6503	SO:0001630	splice_region_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19119239T>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2339-2A>T	19.37:g.19119239T>A						SUGP2_ENST00000452918.2_Splice_Site|SUGP2_ENST00000600377.1_Splice_Site|SUGP2_ENST00000337018.6_Splice_Site|SUGP2_ENST00000456085.2_Splice_Site				Q8IX01	SUGP2_HUMAN			6	2636	-								C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Splice_Site	SNP	ENST00000601879.1	37		CCDS12392.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.873855	0.72180	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0011	0.58676	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUGP2	18980239	1.000000	0.71417	0.879000	0.34478	0.986000	0.74619	5.051000	0.64257	1.670000	0.50864	0.379000	0.24179	.		0.473	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	Intron	7	638	0	0	0	1	0	7	638				
SNED1	25992	broad.mit.edu	37	2	241974046	241974046	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:241974046A>G	ENST00000310397.8	+	4	704	c.704A>G	c.(703-705)gAc>gGc	p.D235G	SNED1_ENST00000405547.3_Missense_Mutation_p.D235G|SNED1_ENST00000342631.6_Missense_Mutation_p.D235G|SNED1_ENST00000401884.1_Missense_Mutation_p.D235G|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	235	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCACAGCAGACATGGCCGAG	0.672																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(703-705)gAc>gGc		sushi, nidogen and EGF-like domains 1							25.0	30.0	28.0					2																	241974046		2068	4201	6269	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241974046A>G	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.704A>G	2.37:g.241974046A>G	ENSP00000308893:p.Asp235Gly					SNED1_ENST00000342631.6_Missense_Mutation_p.D235G|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.D235G|SNED1_ENST00000405547.3_Missense_Mutation_p.D235G	p.D235G	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	4	704	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	235			NIDO.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.704A>G	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443285	0.63067	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.43	4.43	0.53597	Nidogen, extracellular domain (3);	.	.	.	.	T	0.80633	0.4660	M	0.64170	1.965	0.46774	D	0.999197	D	0.76494	0.999	D	0.68943	0.961	T	0.82321	-0.0515	9	0.59425	D	0.04	.	13.6859	0.62515	1.0:0.0:0.0:0.0	.	235	Q8TER0	SNED1_HUMAN	G	235	ENSP00000384871:D235G;ENSP00000386007:D235G;ENSP00000308893:D235G;ENSP00000342992:D235G	ENSP00000308893:D235G	D	+	2	0	SNED1	241622719	1.000000	0.71417	0.692000	0.30179	0.206000	0.24218	6.043000	0.71004	1.610000	0.50200	0.260000	0.18958	GAC		0.672	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		2	1	0	0	0	1	0	2	1				
PWP2	5822	broad.mit.edu	37	21	45550649	45550649	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:45550649C>A	ENST00000291576.7	+	21	2883	c.2756C>A	c.(2755-2757)gCc>gAc	p.A919D	C21orf33_ENST00000291577.6_5'Flank|C21orf33_ENST00000348499.5_5'Flank|C21orf33_ENST00000427803.2_5'Flank	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	919					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGATGCTGGCCTAGAGCCAG	0.597																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(2755-2757)gCc>gAc		PWP2 periodic tryptophan protein homolog (yeast)							84.0	81.0	82.0					21																	45550649		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45550649C>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2756C>A	21.37:g.45550649C>A	ENSP00000291576:p.Ala919Asp						p.A919D	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	21	2883	+			919					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2756C>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120542	0.37436	.	.	ENSG00000241945	ENST00000291576	T	0.59083	0.29	3.09	-6.19	0.02078	.	2.940920	0.01463	N	0.015954	T	0.34164	0.0888	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.16722	0.016	T	0.28996	-1.0026	10	0.54805	T	0.06	-10.2441	6.1315	0.20207	0.0:0.2963:0.2466:0.4571	.	919	Q15269	PWP2_HUMAN	D	919	ENSP00000291576:A919D	ENSP00000291576:A919D	A	+	2	0	PWP2	44375077	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.657000	0.05335	-1.829000	0.01201	-0.910000	0.02820	GCC		0.597	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		77	1265	1	0	2.12129e-23	1	2.38712e-23	77	1265				
LRRC32	2615	broad.mit.edu	37	11	76371567	76371567	+	Missense_Mutation	SNP	C	C	T	rs370963014		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76371567C>T	ENST00000407242.2	-	3	1312	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	357					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCTAAGCGCCGGGCCTCAAA	0.592																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1069-1071)cGg>cAg		leucine rich repeat containing 32		C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	27.0	27.0	27.0		1070,1070	-5.7	0.0	11		27	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	43,43	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	357/663,357/663	76371567	1,12983	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371567C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1070G>A	11.37:g.76371567C>T	ENSP00000384126:p.Arg357Gln					LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q	p.R357Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1312	-			357					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1070G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	4.845	0.157125	0.09236	0.0	1.16E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04454	3.62;3.62;3.62	4.26	-5.69	0.02428	.	1.370670	0.04641	N	0.405255	T	0.02342	0.0072	N	0.04636	-0.2	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47018	-0.9149	10	0.26408	T	0.33	.	8.6358	0.33948	0.0:0.223:0.1952:0.5819	.	357	Q14392	LRC32_HUMAN	Q	357	ENSP00000260061:R357Q;ENSP00000384126:R357Q;ENSP00000385766:R357Q	ENSP00000260061:R357Q	R	-	2	0	LRRC32	76049215	0.000000	0.05858	0.001000	0.08648	0.749000	0.42624	-3.183000	0.00568	-1.172000	0.02762	0.484000	0.47621	CGG		0.592	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		17	73	0	0	0	1	0	17	73				
DNAH2	146754	broad.mit.edu	37	17	7727281	7727281	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7727281C>T	ENST00000572933.1	+	75	12919	c.11459C>T	c.(11458-11460)cCt>cTt	p.P3820L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3820L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3820	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGAGCCGCCTGTGCTGAAT	0.602																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11458-11460)cCt>cTt		dynein, axonemal, heavy chain 2							107.0	81.0	90.0					17																	7727281		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727281C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11459C>T	17.37:g.7727281C>T	ENSP00000458355:p.Pro3820Leu					DNAH2_ENST00000389173.2_Missense_Mutation_p.P3820L	p.P3820L			Q9P225	DYH2_HUMAN			75	12919	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3820			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11459C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873716	0.91664	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08546	3.08	4.96	4.96	0.65561	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58674	-0.7595	10	0.52906	T	0.07	.	16.9608	0.86272	0.0:1.0:0.0:0.0	.	3781;3820	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3781;3820	ENSP00000373825:P3820L	ENSP00000353818:P3781L	P	+	2	0	DNAH2	7668006	1.000000	0.71417	0.964000	0.40570	0.974000	0.67602	5.446000	0.66600	2.309000	0.77851	0.609000	0.83330	CCT		0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		3	202	0	0	0	1	0	3	202				
ERGIC1	57222	broad.mit.edu	37	5	172341926	172341926	+	Intron	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:172341926T>A	ENST00000393784.3	+	5	514				ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000326654.2_Missense_Mutation_p.S109T	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGGAGGCACTCACTCGACCT	0.612																																						ENST00000326654.2																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9						c.(325-327)Tca>Aca		endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1							74.0	72.0	73.0					5																	172341926		1327	2309	3636	SO:0001627	intron_variant	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172341926T>A	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.375+85T>A	5.37:g.172341926T>A						ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron	p.S109T			Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	540	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	0					Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	c.325T>A	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110237	0.20714	.	.	ENSG00000113719	ENST00000326654	.	.	.	2.4	-2.9	0.05648	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	P	0.40476	0.718	B	0.29785	0.107	T	0.14254	-1.0479	6	.	.	.	.	7.6358	0.28266	0.0:0.2784:0.0:0.7216	.	109	Q969X5-3	.	T	109	.	.	S	+	1	0	ERGIC1	172274532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.835000	0.04234	-0.408000	0.06270	TCA		0.612	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		24	5	0	0	0	1	0	24	5				
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152277527C>T	ENST00000368799.1	-	3	9870	c.9835G>A	c.(9835-9837)Gca>Aca	p.A3279T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A3279T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCTCTGCGTGACGAGTG	0.602									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.A3279T(1)	endometrium(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9835-9837)Gca>Aca		filaggrin		T	THR/ALA	1,4405	825.8+/-416.5	0,1,2202	361.0	352.0	355.0		9835	-3.8	0.0	1	dbSNP_133	355	1,8599		0,1,4299	no	missense	FLG	NM_002016.1	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3279/4062	152277527	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277527C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9835G>A	1.37:g.152277527C>T	ENSP00000357789:p.Ala3279Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A3279T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9870	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3279			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9835G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	3.686	-0.064576	0.07273	2.27E-4	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00864	5.6	2.42	-3.84	0.04256	.	.	.	.	.	T	0.00178	0.0005	N	0.22421	0.69	0.09310	N	1	B	0.33919	0.432	B	0.21917	0.037	T	0.41910	-0.9482	9	0.02654	T	1	.	8.0253	0.30434	0.0:0.3227:0.0:0.6773	.	3279	P20930	FILA_HUMAN	T	3279;217	ENSP00000357789:A3279T	ENSP00000357786:A217T	A	-	1	0	FLG	150544151	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.203000	0.00559	-0.916000	0.03818	-2.856000	0.00102	GCA		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	1045	0	0	0	1	0	7	1045				
HOMER1	9456	broad.mit.edu	37	5	78697880	78697880	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:78697880T>A	ENST00000334082.6	-	6	1970		c.e6-2		HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTGCTGAACTAAAATAAAAC	0.408																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.e6-2		homer homolog 1 (Drosophila)							44.0	41.0	42.0					5																	78697880		1853	4089	5942	SO:0001630	splice_region_variant	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78697880T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.528-2A>T	5.37:g.78697880T>A						HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Splice_Site		NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	6	1970	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)						B2R688|O96003|Q86YM5	Splice_Site	SNP	ENST00000334082.6	37		CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020657	0.54576	.	.	ENSG00000152413	ENST00000334082;ENST00000535690	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOMER1	78733636	1.000000	0.71417	0.988000	0.46212	0.710000	0.40934	4.691000	0.61738	2.138000	0.66242	0.459000	0.35465	.		0.408	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	Intron	7	69	0	0	0	1	0	7	69				
MTUS1	57509	broad.mit.edu	37	8	17611604	17611604	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:17611604A>T	ENST00000262102.6	-	2	1937	c.1713T>A	c.(1711-1713)atT>atA	p.I571I	MTUS1_ENST00000519263.1_Silent_p.I571I|MTUS1_ENST00000381862.3_Silent_p.I571I|MTUS1_ENST00000381869.3_Silent_p.I571I	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	571					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTGTCTTGTTAATTAGAATTT	0.393																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(1711-1713)atT>atA		microtubule associated tumor suppressor 1							281.0	253.0	262.0					8																	17611604		1913	4123	6036	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611604A>T	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1713T>A	8.37:g.17611604A>T						MTUS1_ENST00000519263.1_Silent_p.I571I|MTUS1_ENST00000262102.6_Silent_p.I571I|MTUS1_ENST00000381862.3_Silent_p.I571I	p.I571I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2186	-			571					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1713T>A	CCDS43717.1																																																																																				0.393	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		5	254	0	0	0	1	0	5	254				
VWF	7450	broad.mit.edu	37	12	6076766	6076766	+	Silent	SNP	G	G	A	rs375117638		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6076766G>A	ENST00000261405.5	-	47	8027	c.7773C>T	c.(7771-7773)ccC>ccT	p.P2591P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2591	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCTTCCCGGGCTGGAAGC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		13467	0.0		0.001	False		,,,				2504	0.0					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(7771-7773)ccC>ccT		von Willebrand factor	Antihemophilic Factor(DB00025)	G		1,4405	2.1+/-5.4	0,1,2202	123.0	115.0	118.0		7773	-9.7	0.2	12		118	0,8600		0,0,4300	no	coding-synonymous	VWF	NM_000552.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2591/2814	6076766	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6076766G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7773C>T	12.37:g.6076766G>A							p.P2591P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			47	8027	-			2591			VWFC 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.7773C>T	CCDS8539.1																																																																																				0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	610	0	0	0	1	0	4	610				
SCN10A	6336	broad.mit.edu	37	3	38797338	38797338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:38797338C>A	ENST00000449082.2	-	10	1401	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	468					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)	GTGGAGCCCTCTGACACTCTT	0.478																																						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.(1402-1404)Gag>Tag		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)						319.0	267.0	285.0					3																	38797338		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38797338C>A	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.1402G>T	3.37:g.38797338C>A	ENSP00000390600:p.Glu468*						p.E468*	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	10	1401	-			468					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.1402G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674110	0.67928	.	.	ENSG00000185313	ENST00000449082	.	.	.	5.77	4.89	0.63831	.	0.658638	0.15084	N	0.281499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	10.0196	0.42035	0.1554:0.6948:0.1498:0.0	.	.	.	.	X	468	.	ENSP00000390600:E468X	E	-	1	0	SCN10A	38772342	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	3.178000	0.50879	1.558000	0.49541	-0.176000	0.13171	GAG		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		153	437	1	0	1.29601e-68	1	1.51258e-68	153	437				
CFDP1	10428	broad.mit.edu	37	16	75448560	75448560	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:75448560A>C	ENST00000283882.3	-	2	230	c.98T>G	c.(97-99)tTa>tGa	p.L33*	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Nonsense_Mutation_p.L90*	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	33	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TTCCTTCACTAATTCATTTAC	0.413																																						ENST00000283882.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(97-99)tTa>tGa		craniofacial development protein 1							160.0	143.0	149.0					16																	75448560		2198	4300	6498	SO:0001587	stop_gained	10428				multicellular organismal development			g.chr16:75448560A>C	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.98T>G	16.37:g.75448560A>C	ENSP00000283882:p.Leu33*					CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Nonsense_Mutation_p.L90*	p.L33*	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN			2	230	-			33			Glu-rich.		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Nonsense_Mutation	SNP	ENST00000283882.3	37	c.98T>G	CCDS10916.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325761	0.81580	.	.	ENSG00000153774	ENST00000283882	.	.	.	5.55	5.55	0.83447	.	0.138201	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-7.5369	12.0891	0.53715	1.0:0.0:0.0:0.0	.	.	.	.	X	33	.	ENSP00000283882:L33X	L	-	2	0	CFDP1	74006061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.736000	0.62059	2.110000	0.64415	0.482000	0.46254	TTA		0.413	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		4	158	0	0	0	1	0	4	158				
CCDC112	153733	broad.mit.edu	37	5	114607213	114607213	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:114607213A>T	ENST00000512261.1	-	8	1196	c.780T>A	c.(778-780)aaT>aaA	p.N260K	CCDC112_ENST00000395557.4_Missense_Mutation_p.N260K|CCDC112_ENST00000506442.1_Missense_Mutation_p.N260K|CCDC112_ENST00000379611.5_Missense_Mutation_p.N343K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	260										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		tttgcttttgattatcctctt	0.338																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1027-1029)aaT>aaA		coiled-coil domain containing 112							156.0	144.0	148.0					5																	114607213		2201	4300	6501	SO:0001583	missense	153733							g.chr5:114607213A>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.780T>A	5.37:g.114607213A>T	ENSP00000423712:p.Asn260Lys					CCDC112_ENST00000506442.1_Missense_Mutation_p.N260K|CCDC112_ENST00000512261.1_Missense_Mutation_p.N260K|CCDC112_ENST00000395557.4_Missense_Mutation_p.N260K	p.N343K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1316	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	260					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1029T>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	A	3.795	-0.042824	0.07452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21191	2.02;2.39;2.38;2.39	6.03	3.34	0.38264	.	1.189820	0.05531	N	0.563885	T	0.17874	0.0429	L	0.40543	1.245	0.22066	N	0.999383	B;B;B	0.23249	0.082;0.082;0.082	B;B;B	0.25140	0.058;0.058;0.058	T	0.33979	-0.9847	10	0.06236	T	0.91	-6.5804	9.3658	0.38223	0.778:0.0:0.222:0.0	.	260;343;260	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	343;260;260;260	ENSP00000368931:N343K;ENSP00000423712:N260K;ENSP00000424876:N260K;ENSP00000378925:N260K	ENSP00000368931:N343K	N	-	3	2	CCDC112	114635112	0.734000	0.28142	0.997000	0.53966	0.993000	0.82548	0.995000	0.29706	1.097000	0.41459	0.533000	0.62120	AAT		0.338	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		4	75	0	0	0	1	0	4	75				
DNAH7	56171	broad.mit.edu	37	2	196636399	196636399	+	Silent	SNP	A	A	T	rs57513754		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:196636399A>T	ENST00000312428.6	-	61	11518	c.11418T>A	c.(11416-11418)atT>atA	p.I3806I	DNAH7_ENST00000409063.1_Silent_p.I289I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3806					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGCTTTTTGAATATTTACGC	0.338																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(11416-11418)atT>atA		dynein, axonemal, heavy chain 7							177.0	157.0	163.0					2																	196636399		1842	4103	5945	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196636399A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11418T>A	2.37:g.196636399A>T						DNAH7_ENST00000409063.1_Silent_p.I289I	p.I3806I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			61	11518	-			3806					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11418T>A	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	252	0	0	0	1	0	5	252				
KIF16B	55614	broad.mit.edu	37	20	16359478	16359478	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:16359478G>C	ENST00000354981.2	-	19	3326	c.3169C>G	c.(3169-3171)Cag>Gag	p.Q1057E	KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E|KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1057	Glu-rich.			EQ -> SE (in Ref. 6; AAH34984). {ECO:0000305}.	ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q1057*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGCTTCCTGCTCAGCCTCC	0.557																																						ENST00000354981.2																			1	Substitution - Nonsense(1)	p.Q1057*(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3169-3171)Cag>Gag		kinesin family member 16B							106.0	105.0	105.0					20																	16359478		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359478G>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3169C>G	20.37:g.16359478G>C	ENSP00000347076:p.Gln1057Glu					KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E|KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E	p.Q1057E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3326	-			1057	EQ -> SE (in Ref. 6; AAH34984).		Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3169C>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584941	0.28268	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.70282	-0.4;-0.36;2.47;-0.47	5.39	4.42	0.53409	.	0.536274	0.21158	N	0.079215	T	0.60702	0.2289	L	0.46157	1.445	0.26759	N	0.970039	B;B;B;B	0.33883	0.091;0.43;0.018;0.025	B;B;B;B	0.33254	0.073;0.16;0.029;0.036	T	0.51639	-0.8680	10	0.05833	T	0.94	.	15.6417	0.77009	0.0:0.1428:0.8572:0.0	.	1057;1057;1057;1057	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	E	1057;1057;901;283;1057	ENSP00000347076:Q1057E;ENSP00000347995:Q1057E;ENSP00000367242:Q283E;ENSP00000384164:Q1057E	ENSP00000347076:Q1057E	Q	-	1	0	KIF16B	16307478	0.995000	0.38212	0.254000	0.24359	0.687000	0.40016	3.352000	0.52239	1.366000	0.46076	0.643000	0.83706	CAG		0.557	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		207	427	0	0	0	1	0	207	427				
CHD5	26038	broad.mit.edu	37	1	6170533	6170533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:6170533A>T	ENST00000262450.3	-	37	5402	c.5303T>A	c.(5302-5304)cTc>cAc	p.L1768H	CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCTCGTTGAGGATCATGTA	0.572																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5302-5304)cTc>cAc		chromodomain helicase DNA binding protein 5							144.0	142.0	143.0					1																	6170533		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6170533A>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5303T>A	1.37:g.6170533A>T	ENSP00000262450:p.Leu1768His					CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	p.L1768H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	37	5402	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1768					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5303T>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	a	35	5.579667	0.96565	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.93859	-3.3;1.7	5.41	5.41	0.78517	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000010	D	0.95121	0.8419	L	0.42245	1.32	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.979	D	0.95747	0.8788	10	0.87932	D	0	-32.2848	15.7289	0.77788	1.0:0.0:0.0:0.0	.	1768;625	Q8TDI0;Q5TG85	CHD5_HUMAN;.	H	1768;625;625	ENSP00000262450:L1768H;ENSP00000367260:L625H	ENSP00000262450:L1768H	L	-	2	0	CHD5	6093120	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.211000	0.95120	2.187000	0.69744	0.418000	0.28097	CTC		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		55	17	0	0	0	1	0	55	17				
SLC26A4	5172	broad.mit.edu	37	7	107336393	107336393	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:107336393A>T	ENST00000265715.3	+	13	1677	c.1453A>T	c.(1453-1455)Acg>Tcg	p.T485S	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T72S|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T54S|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T46S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	485					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGGGTGTTTACGTGTATAGT	0.368									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1453-1455)Acg>Tcg		solute carrier family 26 (anion exchanger), member 4							269.0	256.0	260.0					7																	107336393		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107336393A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1453A>T	7.37:g.107336393A>T	ENSP00000265715:p.Thr485Ser					SLC26A4_ENST00000543100.1_Missense_Mutation_p.T54S|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T46S|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T72S	p.T485S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			13	1677	+			485					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1453A>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.522161	0.64747	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95980	-3.84;-3.79;-3.87;-3.8	6.06	4.88	0.63580	.	0.115890	0.64402	N	0.000018	D	0.93232	0.7844	L	0.48174	1.505	0.39129	D	0.961815	P;P;P	0.42375	0.663;0.533;0.778	B;B;B	0.42422	0.192;0.102;0.387	D	0.91991	0.5603	10	0.38643	T	0.18	.	12.622	0.56607	0.8758:0.0:0.0:0.1242	.	46;72;485	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	S	485;46;72;54	ENSP00000265715:T485S;ENSP00000439743:T46S;ENSP00000437427:T72S;ENSP00000441209:T54S	ENSP00000265715:T485S	T	+	1	0	SLC26A4	107123629	1.000000	0.71417	0.983000	0.44433	0.948000	0.59901	8.363000	0.90103	1.068000	0.40764	0.523000	0.50628	ACG		0.368	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		11	578	0	0	0	1	0	11	578				
LYAR	55646	broad.mit.edu	37	4	4276152	4276152	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:4276152G>T	ENST00000343470.4	-	7	1014	c.774C>A	c.(772-774)agC>agA	p.S258R	LYAR_ENST00000452476.1_Missense_Mutation_p.S258R	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	258	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCACTGGCGCTGTCCTTGC	0.602																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(772-774)agC>agA		Ly1 antibody reactive							285.0	283.0	284.0					4																	4276152		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276152G>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.774C>A	4.37:g.4276152G>T	ENSP00000345917:p.Ser258Arg					LYAR_ENST00000452476.1_Missense_Mutation_p.S258R	p.S258R	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	1014	-			258			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.774C>A	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	G	5.323	0.245000	0.10077	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.31247	1.5;1.5	4.9	-3.23	0.05109	.	1.264780	0.05297	N	0.522302	T	0.12263	0.0298	N	0.02539	-0.55	0.09310	N	1	B	0.28291	0.206	B	0.22386	0.039	T	0.27191	-1.0081	10	0.13470	T	0.59	21.2552	13.3284	0.60473	0.7145:0.0:0.2855:0.0	.	258	Q9NX58	LYAR_HUMAN	R	258	ENSP00000345917:S258R;ENSP00000397367:S258R	ENSP00000345917:S258R	S	-	3	2	LYAR	4327053	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.394000	0.02518	-0.907000	0.03862	-1.134000	0.01955	AGC		0.602	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		26	846	1	0	3.73148e-12	1	4.0842e-12	26	846				
CENPV	201161	broad.mit.edu	37	17	16252001	16252001	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:16252001T>A	ENST00000476243.1	-	3	1175	c.46A>T	c.(46-48)Agt>Tgt	p.S16C	PIGL_ENST00000581006.1_Intron|CENPV_ENST00000299736.4_Splice_Site			Q7Z7K6	CENPV_HUMAN	centromere protein V	173					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						ATGCTGCAACTACAGAAAGAC	0.517																																						ENST00000476243.1																			0				endometrium(1)|large_intestine(2)	3						c.(46-48)Agt>Tgt		centromere protein V							94.0	80.0	85.0					17																	16252001		2203	4300	6503	SO:0001583	missense	201161				cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity	g.chr17:16252001T>A	AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000476243.1:c.46A>T	17.37:g.16252001T>A	ENSP00000462377:p.Ser16Cys					CENPV_ENST00000299736.4_Splice_Site|PIGL_ENST00000581006.1_Intron	p.S16C			Q7Z7K6	CENPV_HUMAN			3	1175	-			173					B2RPK2|Q3L8N5|Q8NFH6	Missense_Mutation	SNP	ENST00000476243.1	37	c.46A>T		.	.	.	.	.	.	.	.	.	.	T	14.92	2.680827	0.47886	.	.	ENSG00000166582	ENST00000299736	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.426	0.61026	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPV	16192726	1.000000	0.71417	0.994000	0.49952	0.404000	0.30871	6.645000	0.74343	2.103000	0.63969	0.459000	0.35465	.		0.517	CENPV-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000131878.2	NM_181716		4	116	0	0	0	1	0	4	116				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.e4-1		zinc finger, matrin-type 2							166.0	152.0	157.0					5																	140083501		2203	4300	6503	SO:0001630	splice_region_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083501A>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.237-1A>T	5.37:g.140083501A>T								NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	363	+									Splice_Site	SNP	ENST00000274712.3	37		CCDS4239.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787461	0.90367	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0025	0.80306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMAT2	140063685	1.000000	0.71417	0.698000	0.30274	0.851000	0.48451	8.932000	0.92897	2.237000	0.73441	0.459000	0.35465	.		0.368	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	Intron	6	397	0	0	0	1	0	6	397				
NAV3	89795	broad.mit.edu	37	12	78515718	78515718	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:78515718A>T	ENST00000397909.2	+	16	3922		c.e16-1		NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTTTCTTTTAGGTTGTTTGG	0.423										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.e16-1		neuron navigator 3							42.0	40.0	40.0					12																	78515718		1876	4119	5995	SO:0001630	splice_region_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515718A>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3750-1A>T	12.37:g.78515718A>T		HNSCC(70;0.22)				NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000266692.7_Intron				Q8IVL0	NAV3_HUMAN			16	3922	+								Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	37			.	.	.	.	.	.	.	.	.	.	A	18.61	3.660521	0.67586	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	77039849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.064000	0.93933	2.315000	0.78130	0.533000	0.62120	.		0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Intron	5	236	0	0	0	1	0	5	236				
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:34666597C>T	ENST00000488417.1	+	3	1354	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	412								p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577																																						ENST00000488417.1																			1	Substitution - Nonsense(1)	p.R222*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1234-1236)Cga>Tga		chromosome 1 open reading frame 94							35.0	34.0	34.0					1																	34666597		2202	4300	6502	SO:0001587	stop_gained	84970						protein binding	g.chr1:34666597C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1234C>T	1.37:g.34666597C>T	ENSP00000435634:p.Arg412*					C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	p.R412*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1354	+		Myeloproliferative disorder(586;0.0393)	222					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Nonsense_Mutation	SNP	ENST00000488417.1	37	c.1234C>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889663	0.91889	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	.	.	.	5.52	4.61	0.57282	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6044	10.1682	0.42893	0.0:0.9075:0.0:0.0925	.	.	.	.	X	222;412	.	ENSP00000362472:R222X	R	+	1	2	C1orf94	34439184	0.996000	0.38824	0.999000	0.59377	0.054000	0.15201	1.069000	0.30641	1.324000	0.45282	0.655000	0.94253	CGA		0.577	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		11	31	0	0	0	1	0	11	31				
GALNT2	2590	broad.mit.edu	37	1	230391013	230391013	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:230391013G>A	ENST00000366672.4	+	11	1131	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	GALNT2_ENST00000543760.1_Silent_p.P315P|GALNT2_ENST00000541865.1_Missense_Mutation_p.V229M	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	353	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|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 vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGATCATCCCGTGCAGCCGTG	0.607																																						ENST00000541865.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(685-687)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							225.0	166.0	186.0					1																	230391013		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230391013G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1059G>A	1.37:g.230391013G>A						GALNT2_ENST00000543760.1_Silent_p.P315P|GALNT2_ENST00000366672.4_Silent_p.P353P	p.V229M			Q10471	GALT2_HUMAN			9	871	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	85			Catalytic subdomain A.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.685G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390847	0.62066	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	-5.78	0.02362	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	T	0.42378	-0.9455	6	0.87932	D	0	.	0.3919	0.00412	0.2371:0.2135:0.2755:0.2739	.	.	.	.	M	229	ENSP00000444346:V229M	ENSP00000444346:V229M	V	+	1	0	GALNT2	228457636	0.000000	0.05858	0.966000	0.40874	0.993000	0.82548	-2.476000	0.00986	-0.779000	0.04560	-0.217000	0.12591	GTG		0.607	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		5	576	0	0	0	1	0	5	576				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe						p.L31F	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		5	221	0	0	0	1	0	5	221				
DGKK	139189	broad.mit.edu	37	X	50122701	50122701	+	RNA	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:50122701A>G	ENST00000376025.2	-	0	2845							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AATGCCTTGCAGGTTTGGCAA	0.443																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							153.0	130.0	137.0					X																	50122701		1925	4134	6059			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50122701A>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122701A>G										Q5KSL6	DGKK_HUMAN			0	2845	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		5	420	0	0	0	1	0	5	420				
USP43	124739	broad.mit.edu	37	17	9583639	9583639	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:9583639A>T	ENST00000285199.7	+	6	1157	c.1061A>T	c.(1060-1062)tAt>tTt	p.Y354F	USP43_ENST00000570475.1_Missense_Mutation_p.Y354F|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	354	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GATAATGTGTATGCCTTTCAA	0.453																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(127-129)tAt>tTt		ubiquitin specific peptidase 43							120.0	112.0	115.0					17																	9583639		1887	4110	5997	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9583639A>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1061A>T	17.37:g.9583639A>T	ENSP00000285199:p.Tyr354Phe					USP43_ENST00000285199.6_Missense_Mutation_p.Y354F|USP43_ENST00000575346.1_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.Y354F	p.Y43F			Q70EL4	UBP43_HUMAN			6	1202	+			354					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.128A>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313395	0.81358	.	.	ENSG00000154914	ENST00000285199	T	0.10192	2.9	5.64	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.15912	0.0383	L	0.31120	0.905	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.994	D;D;D	0.87578	0.992;0.998;0.947	T	0.09509	-1.0671	10	0.07175	T	0.84	-14.528	9.8045	0.40783	0.846:0.0:0.0:0.154	.	354;43;354	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	F	354	ENSP00000285199:Y354F	ENSP00000285199:Y354F	Y	+	2	0	USP43	9524364	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.272000	0.65559	2.153000	0.67306	0.482000	0.46254	TAT		0.453	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		4	154	0	0	0	1	0	4	154				
BRF2	55290	broad.mit.edu	37	8	37704498	37704498	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:37704498G>A	ENST00000220659.6	-	3	530	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BRF2_ENST00000520601.1_Missense_Mutation_p.A137V|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGTGCAGATGGCCCCCATTGT	0.532																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(409-411)gCc>gTc		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							225.0	206.0	213.0					8																	37704498		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704498G>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.410C>T	8.37:g.37704498G>A	ENSP00000220659:p.Ala137Val					BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.A137V	p.A137V	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	530	-		Lung NSC(58;0.118)|all_lung(54;0.195)	137					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.410C>T	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323807	0.81580	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.54	5.54	0.83059	Cyclin-like (3);	0.102198	0.64402	D	0.000002	T	0.42765	0.1217	N	0.08118	0	0.80722	D	1	B	0.21309	0.054	B	0.18263	0.021	T	0.38824	-0.9643	9	0.87932	D	0	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	137	Q9HAW0	BRF2_HUMAN	V	137;114;137	.	ENSP00000220659:A137V	A	-	2	0	BRF2	37823656	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.045000	0.93812	2.615000	0.88500	0.555000	0.69702	GCC		0.532	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		8	932	0	0	0	1	0	8	932				
HLCS	3141	broad.mit.edu	37	21	38128989	38128989	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:38128989A>T	ENST00000399120.1	-	11	3093	c.1863T>A	c.(1861-1863)aaT>aaA	p.N621K	HLCS_ENST00000336648.4_Missense_Mutation_p.N621K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	621	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGTGTTGTTTATTGTATTCTG	0.443																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1861-1863)aaT>aaA		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						279.0	242.0	255.0					21																	38128989		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38128989A>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1863T>A	21.37:g.38128989A>T	ENSP00000382071:p.Asn621Lys					HLCS_ENST00000336648.3_Missense_Mutation_p.N621K	p.N621K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			11	3093	-		Myeloproliferative disorder(46;0.0422)	621					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1863T>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168757	0.38315	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.96885	-4.16;-4.16	4.74	-5.31	0.02730	.	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.89904	3.07	0.29787	N	0.833483	D	0.89917	1.0	D	0.79108	0.992	D	0.94752	0.7928	10	0.27785	T	0.31	.	16.3295	0.83004	0.3285:0.0:0.6715:0.0	.	621	P50747	BPL1_HUMAN	K	621	ENSP00000382071:N621K;ENSP00000338387:N621K	ENSP00000338387:N621K	N	-	3	2	HLCS	37050859	0.074000	0.21230	0.004000	0.12327	0.073000	0.16967	0.066000	0.14489	-1.128000	0.02922	-0.337000	0.08149	AAT		0.443	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			7	617	0	0	0	1	0	7	617				
FBXO9	26268	broad.mit.edu	37	6	52945779	52945779	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:52945779G>A	ENST00000244426.6	+	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	FBXO9_ENST00000370939.3_Missense_Mutation_p.D107N|FBXO9_ENST00000323557.7_Missense_Mutation_p.D141N	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	151					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TGAAGATAATGATGATGACAG	0.398																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(451-453)Gat>Aat		F-box protein 9							128.0	123.0	124.0					6																	52945779		1930	4134	6064	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52945779G>A	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.451G>A	6.37:g.52945779G>A	ENSP00000244426:p.Asp151Asn					FBXO9_ENST00000370939.3_Missense_Mutation_p.D107N|FBXO9_ENST00000323557.7_Missense_Mutation_p.D141N	p.D151N	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN			5	623	+	Lung NSC(77;0.103)		151					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.451G>A	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135947	0.37728	.	.	ENSG00000112146	ENST00000498744;ENST00000370939;ENST00000323557;ENST00000473337;ENST00000244426	T;T;T	0.77098	-1.06;-1.07;-1.07	5.06	4.08	0.47627	.	0.274741	0.40302	N	0.001136	T	0.39253	0.1071	N	0.14661	0.345	0.35203	D	0.774488	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.13764	-1.0497	10	0.15952	T	0.53	-17.7184	9.6582	0.39939	0.176:0.0:0.824:0.0	.	141;258;151	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	N	107;107;141;107;151	ENSP00000359977:D107N;ENSP00000326968:D141N;ENSP00000244426:D151N	ENSP00000244426:D151N	D	+	1	0	FBXO9	53053738	1.000000	0.71417	0.499000	0.27577	0.875000	0.50365	3.604000	0.54081	1.084000	0.41184	0.591000	0.81541	GAT		0.398	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			6	58	0	0	0	1	0	6	58				
MAP4	4134	broad.mit.edu	37	3	48019414	48019414	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:48019414G>A	ENST00000360240.6	-	3	751	c.233C>T	c.(232-234)tCt>tTt	p.S78F	MAP4_ENST00000439356.1_Missense_Mutation_p.S78F|MAP4_ENST00000434267.1_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F|MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000426837.2_Missense_Mutation_p.S95F	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	78					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGTTTAGAAGATGGAGTATC	0.408																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(283-285)tCt>tTt		microtubule-associated protein 4							208.0	186.0	193.0					3																	48019414		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:48019414G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.233C>T	3.37:g.48019414G>A	ENSP00000353375:p.Ser78Phe					MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000439356.1_Missense_Mutation_p.S78F|MAP4_ENST00000360240.6_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F|MAP4_ENST00000434267.1_Missense_Mutation_p.S78F	p.S95F			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	4	371	-			78					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.284C>T	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.003567|4.003567	0.74932|0.74932	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356	.|T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;1.23;1.23	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.995;0.997;0.996	.|P;D;P	.|0.66847	.|0.742;0.947;0.862	T|T	0.65038|0.65038	-0.6265|-0.6265	5|9	.|0.87932	.|D	.|0	-2.3186|-2.3186	13.2732|13.2732	0.60172|0.60172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;78;78	.|Q86V26;P27816-6;P27816	.|.;.;MAP4_HUMAN	F|F	85|78;78;95;78;78;78	.|ENSP00000373243:S78F;ENSP00000379083:S78F;ENSP00000407602:S95F;ENSP00000353375:S78F;ENSP00000402767:S78F;ENSP00000397414:S78F	.|ENSP00000353375:S78F	L|S	-|-	1|2	0|0	MAP4|MAP4	47994418|47994418	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.879000|0.879000	0.50718|0.50718	5.255000|5.255000	0.65462|0.65462	2.587000|2.587000	0.87381|0.87381	0.460000|0.460000	0.39030|0.39030	CTT|TCT		0.408	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		102	125	0	0	0	1	0	102	125				
TRIM68	55128	broad.mit.edu	37	11	4621656	4621656	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:4621656G>T	ENST00000300747.5	-	7	1597	c.1308C>A	c.(1306-1308)ttC>ttA	p.F436L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACATTGTAGAAAGAAATGT	0.547																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(1306-1308)ttC>ttA		tripartite motif containing 68							91.0	76.0	81.0					11																	4621656		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621656G>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1308C>A	11.37:g.4621656G>T	ENSP00000300747:p.Phe436Leu						p.F436L	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1597	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	436			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.1308C>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552955	0.65425	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	D	0.89343	-2.5	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000040	D	0.94479	0.8223	M	0.88640	2.97	0.40072	D	0.976021	D	0.89917	1.0	D	0.87578	0.998	D	0.94953	0.8101	10	0.87932	D	0	.	9.994	0.41887	0.0934:0.0:0.9066:0.0	.	436	Q6AZZ1	TRI68_HUMAN	L	436;157	ENSP00000300747:F436L	ENSP00000300747:F436L	F	-	3	2	TRIM68	4578232	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	0.840000	0.27600	2.550000	0.86006	0.561000	0.74099	TTC		0.547	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		6	154	1	0	0.0215528	1	0.0220028	6	154				
NF1	4763	broad.mit.edu	37	17	29687570	29687570	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:29687570C>G	ENST00000358273.4	+	57	8609	c.8226C>G	c.(8224-8226)taC>taG	p.Y2742*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*|NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2742					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACACGTACCTGCCTGGAA	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8224-8226)taC>taG		neurofibromin 1							175.0	167.0	169.0					17																	29687570		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29687570C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8226C>G	17.37:g.29687570C>G	ENSP00000351015:p.Tyr2742*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*|NF1_ENST00000417592.2_3'UTR	p.Y2742*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	57	8609	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2742					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.8226C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271494	0.80469	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.27	3.11	0.35812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	6.5522	0.22440	0.0:0.387:0.0:0.613	.	.	.	.	X	2742;2721;2387;535	.	ENSP00000348498:Y2721X	Y	+	3	2	NF1	26711696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.829000	0.39121	1.014000	0.39417	0.655000	0.94253	TAC		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		109	141	0	0	0	1	0	109	141				
TUBGCP3	10426	broad.mit.edu	37	13	113219494	113219494	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:113219494T>A	ENST00000261965.3	-	3	371		c.e3-2		TUBGCP3_ENST00000375669.3_Splice_Site	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					GTCGAATAACTGAAAAGACAG	0.363																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.e3-2		tubulin, gamma complex associated protein 3							130.0	130.0	130.0					13																	113219494		2203	4300	6503	SO:0001630	splice_region_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113219494T>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.185-2A>T	13.37:g.113219494T>A						TUBGCP3_ENST00000375669.3_Splice_Site		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			3	371	-	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)							O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Splice_Site	SNP	ENST00000261965.3	37		CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662193	0.47572	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBGCP3	112267495	1.000000	0.71417	0.889000	0.34880	0.400000	0.30750	6.903000	0.75703	1.836000	0.53414	0.519000	0.50382	.		0.363	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	Intron	7	311	0	0	0	1	0	7	311				
OR2A25	392138	broad.mit.edu	37	7	143771625	143771625	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:143771625A>T	ENST00000408898.2	+	1	351	c.313A>T	c.(313-315)Agt>Tgt	p.S105C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGTTTTTGAGTTTTGCACA	0.527																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(313-315)Agt>Tgt		olfactory receptor, family 2, subfamily A, member 25							89.0	96.0	94.0					7																	143771625		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771625A>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.313A>T	7.37:g.143771625A>T	ENSP00000386167:p.Ser105Cys						p.S105C	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	351	+	Melanoma(164;0.0783)		105					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.313A>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563068	0.27915	.	.	ENSG00000221933	ENST00000408898	D	0.82619	-1.63	4.88	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75391	0.3843	L	0.41961	1.31	0.09310	N	1	P	0.39903	0.694	B	0.41036	0.346	T	0.66019	-0.6027	9	0.59425	D	0.04	-1.7701	3.2662	0.06865	0.643:0.0:0.1859:0.1711	.	105	A4D2G3	O2A25_HUMAN	C	105	ENSP00000386167:S105C	ENSP00000386167:S105C	S	+	1	0	OR2A25	143402558	0.001000	0.12720	0.279000	0.24732	0.521000	0.34408	0.624000	0.24462	0.364000	0.24374	0.460000	0.39030	AGT		0.527	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			6	456	0	0	0	1	0	6	456				
MPHOSPH9	10198	broad.mit.edu	37	12	123678961	123678961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:123678961A>T	ENST00000606320.1	-	13	2419	c.2213T>A	c.(2212-2214)cTa>cAa	p.L738Q	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L708Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L586Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L586Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	738						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCTTGTTTTAGTTGAGCTTC	0.308																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2212-2214)cTa>cAa		M-phase phosphoprotein 9							166.0	149.0	155.0					12																	123678961		2203	4299	6502	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123678961A>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2213T>A	12.37:g.123678961A>T	ENSP00000475489:p.Leu738Gln					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L586Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L708Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L586Q	p.L738Q			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	13	2419	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		586					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2213T>A		.	.	.	.	.	.	.	.	.	.	A	11.87	1.768725	0.31320	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.79653	-1.29;-1.29	5.67	4.48	0.54585	.	0.396759	0.21328	N	0.076349	D	0.84973	0.5591	L	0.60455	1.87	0.09310	N	1	D	0.63046	0.992	P	0.62813	0.907	T	0.76460	-0.2951	10	0.59425	D	0.04	-9.8534	10.2001	0.43077	0.7385:0.0:0.0:0.2615	.	586	Q99550	MPP9_HUMAN	Q	586	ENSP00000303597:L586Q;ENSP00000445859:L586Q	ENSP00000303597:L586Q	L	-	2	0	MPHOSPH9	122244914	0.513000	0.26194	0.226000	0.23910	0.401000	0.30781	3.323000	0.52014	2.164000	0.68074	0.533000	0.62120	CTA		0.308	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			3	20	0	0	0	1	0	3	20				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A								NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	5	90	0	0	0	1	0	5	90				
CYFIP2	26999	broad.mit.edu	37	5	156746796	156746796	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156746796G>A	ENST00000442283.2	+	0	1520				CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q|CYFIP2_ENST00000377576.3_Silent_p.Q461Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q|CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGCCTGCAGGTGCTCATGG	0.602																																						ENST00000442283.2																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38								cytoplasmic FMR1 interacting protein 2							85.0	86.0	85.0					5																	156746796		2203	4300	6503			26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746796G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07			5.37:g.156746796G>A						CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q|CYFIP2_ENST00000377576.3_Silent_p.Q461Q		NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	1520	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)							Translation_Start_Site	SNP	ENST00000442283.2	37																																																																																						0.602	CYFIP2-205	KNOWN	basic	protein_coding	protein_coding		NM_001037332		176	318	0	0	0	1	0	176	318				
ZNF445	353274	broad.mit.edu	37	3	44492932	44492932	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:44492932T>C	ENST00000396077.2	-	4	819	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZNF445_ENST00000425708.2_Missense_Mutation_p.T158A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	158					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGGCTCCTGTACCCATCCAA	0.547																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(472-474)Aca>Gca		zinc finger protein 445							82.0	82.0	82.0					3																	44492932		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44492932T>C	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.472A>G	3.37:g.44492932T>C	ENSP00000379387:p.Thr158Ala					ZNF445_ENST00000396077.2_Missense_Mutation_p.T158A	p.T158A			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	813	-			158					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.472A>G	CCDS2713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.21|15.21	2.764717|2.764717	0.49574|0.49574	.|.	.|.	ENSG00000185219|ENSG00000185219	ENST00000425708;ENST00000396077|ENST00000340674;ENST00000430301	T;T|.	0.05717|.	3.4;3.4|.	5.07|5.07	3.91|3.91	0.45181|0.45181	Transcription regulator SCAN (1);|.	0.000000|.	0.48286|.	D|.	0.000196|.	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.19112|0.19112	0.55|0.55	0.29673|0.29673	N|N	0.842314|0.842314	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.57620|.	0.824;0.824|.	T|T	0.17077|0.17077	-1.0381|-1.0381	10|6	0.36615|0.38643	T|T	0.2|0.18	.|.	6.9628|6.9628	0.24608|0.24608	0.0:0.1021:0.0:0.8979|0.0:0.1021:0.0:0.8979	.|.	158;158|.	B7ZKX2;P59923|.	.;ZN445_HUMAN|.	A|C	158|152;156	ENSP00000413073:T158A;ENSP00000379387:T158A|.	ENSP00000379387:T158A|ENSP00000342436:Y152C	T|Y	-|-	1|2	0|0	ZNF445|ZNF445	44467936|44467936	0.997000|0.997000	0.39634|0.39634	0.964000|0.964000	0.40570|0.40570	0.995000|0.995000	0.86356|0.86356	2.172000|2.172000	0.42463|0.42463	2.051000|2.051000	0.60960|0.60960	0.402000|0.402000	0.26972|0.26972	ACA|TAC		0.547	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		9	1288	0	0	0	1	0	9	1288				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T						TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA								2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	5	94	0	0	0	1	0	5	94				
EIF3L	51386	broad.mit.edu	37	22	38259287	38259287	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:38259287G>C	ENST00000412331.2	+	7	1096	c.514G>C	c.(514-516)Ggt>Cgt	p.G172R	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G74R|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGATGCCGATGGTCCTGCTCC	0.443																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(514-516)Ggt>Cgt		eukaryotic translation initiation factor 3, subunit L							146.0	127.0	133.0					22																	38259287		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38259287G>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.514G>C	22.37:g.38259287G>C	ENSP00000416892:p.Gly172Arg					EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G74R	p.G172R	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			7	1096	+			172						Missense_Mutation	SNP	ENST00000412331.2	37	c.514G>C	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037398	0.93630	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000262832;ENST00000406934;ENST00000451427	T;T	0.47177	0.85;0.85	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	L	0.55990	1.75	0.80722	D	1	B;P;P	0.46395	0.036;0.714;0.877	B;P;P	0.46585	0.027;0.521;0.474	T	0.56189	-0.8020	10	0.51188	T	0.08	-15.5157	18.6572	0.91458	0.0:0.0:1.0:0.0	.	74;172;215	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	R	172;215;139;74;148	ENSP00000416892:G172R;ENSP00000384634:G74R	ENSP00000262832:G139R	G	+	1	0	EIF3L	36589233	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.270000	0.95690	2.469000	0.83416	0.467000	0.42956	GGT		0.443	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		59	119	0	0	0	1	0	59	119				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(520-522)Aat>Tat		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						72.0	70.0	71.0					12																	7172406		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172406A>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.520A>T	12.37:g.7172406A>T	ENSP00000385035:p.Asn174Tyr					C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y	p.N174Y			P09871	C1S_HUMAN			9	1148	+			174					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.520A>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209523	0.58343	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	6.17	6.17	0.99709	CUB (2);	0.000000	0.45606	D	0.000349	T	0.18841	0.0452	N	0.19112	0.55	0.48341	D	0.999634	P	0.49185	0.92	B	0.43889	0.435	T	0.01401	-1.1364	10	0.72032	D	0.01	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	174	P09871	C1S_HUMAN	Y	174;174;174;163;7;7	ENSP00000385035:N174Y;ENSP00000328173:N174Y;ENSP00000354057:N174Y;ENSP00000384171:N7Y;ENSP00000442298:N7Y	ENSP00000328173:N174Y	N	+	1	0	C1S	7042667	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.137000	0.64789	2.371000	0.80710	0.533000	0.62120	AAT		0.423	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		7	252	0	0	0	1	0	7	252				
ABCA12	26154	broad.mit.edu	37	2	215868936	215868936	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:215868936G>T	ENST00000272895.7	-	20	2899	c.2680C>A	c.(2680-2682)Ctc>Atc	p.L894I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	894					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACTCACCGAGTTCATCTATC	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2680-2682)Ctc>Atc		ATP-binding cassette, sub-family A (ABC1), member 12							62.0	62.0	62.0					2																	215868936		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215868936G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2680C>A	2.37:g.215868936G>T	ENSP00000272895:p.Leu894Ile					ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	p.L894I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	20	2899	-		Renal(323;0.127)	894					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2680C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661272	0.67700	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85484	-1.99;-1.99	5.7	5.7	0.88788	.	0.231983	0.30428	N	0.009646	D	0.88573	0.6473	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.74674	0.984;0.854	D	0.86669	0.1909	10	0.35671	T	0.21	.	12.3443	0.55111	0.0773:0.0:0.9227:0.0	.	894;576	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	894;576	ENSP00000272895:L894I;ENSP00000374312:L576I	ENSP00000272895:L894I	L	-	1	0	ABCA12	215577181	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	3.740000	0.55082	2.687000	0.91594	0.563000	0.77884	CTC		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		21	35	1	0	3.5997e-14	1	3.96959e-14	21	35				
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517																																						ENST00000395511.3																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e7-1		dehydrogenase/reductase (SDR family) member 7B							82.0	81.0	82.0					17																	21094259		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21094259A>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.773-1A>T	17.37:g.21094259A>T						DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron		NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			7	1092	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592061	0.46214	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1502	0.81611	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21034851	1.000000	0.71417	0.745000	0.31077	0.287000	0.27160	8.794000	0.91867	2.224000	0.72417	0.533000	0.62120	.		0.517	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	6	106	0	0	0	1	0	6	106				
CIITA	4261	broad.mit.edu	37	16	11001152	11001152	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:11001152G>A	ENST00000324288.8	+	11	1936	c.1803G>A	c.(1801-1803)cgG>cgA	p.R601R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	601	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCGGGACCGGCCACTTCTTC	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1801-1803)cgG>cgA		class II, major histocompatibility complex, transactivator							39.0	36.0	37.0					16																	11001152		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001152G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1803G>A	16.37:g.11001152G>A						CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	p.R601R	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1936	+			601			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1803G>A	CCDS10544.1																																																																																				0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		3	102	0	0	0	1	0	3	102				
CERS6	253782	broad.mit.edu	37	2	169622847	169622847	+	Intron	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:169622847C>T	ENST00000305747.6	+	9	1589				CERS6_ENST00000392687.4_Missense_Mutation_p.P340S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GAAGTGGAACCCTTTACATGT	0.468																																						ENST00000392687.4																			0											c.(1018-1020)Cct>Tct		ceramide synthase 6							97.0	91.0	93.0					2																	169622847		876	1991	2867	SO:0001627	intron_variant	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169622847C>T	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1002+589C>T	2.37:g.169622847C>T						CERS6_ENST00000305747.6_Intron	p.P340S	NM_001256126.1	NP_001243055.1	Q6ZMG9	CERS6_HUMAN			10	1218	+			334					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.1018C>T	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785120	0.70222	.	.	ENSG00000172292	ENST00000392687	T	0.10477	2.87	5.31	5.31	0.75309	.	0.000000	0.31404	U	0.007706	T	0.23965	0.0580	.	.	.	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.02617	-1.1133	9	0.07813	T	0.8	.	19.3345	0.94309	0.0:1.0:0.0:0.0	.	340	Q32M63	.	S	340	ENSP00000376453:P340S	ENSP00000376453:P340S	P	+	1	0	CERS6	169331093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.972000	0.76110	2.654000	0.90174	0.591000	0.81541	CCT		0.468	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		51	131	0	0	0	1	0	51	131				
PHTF1	10745	broad.mit.edu	37	1	114252891	114252891	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114252891C>A	ENST00000369604.1	-	11	1737	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	418					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAACATCCTCTTTGGGGT	0.473																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1252-1254)gaG>gaT		putative homeodomain transcription factor 1							74.0	65.0	68.0					1																	114252891		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114252891C>A	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1254G>T	1.37:g.114252891C>A	ENSP00000358617:p.Glu418Asp					PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D	p.E418D			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1737	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	418					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1254G>T	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405377|2.405377	0.42715|0.42715	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.73|5.73	1.01|1.01	0.19927|0.19927	.|.	0.122068|.	0.64402|.	D|.	0.000014|.	T|T	0.21022|0.21022	0.0506|0.0506	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.731;0.993;0.991|.	B;P;P|.	0.56434|.	0.304;0.775;0.798|.	T|T	0.05370|0.05370	-1.0889|-1.0889	9|5	0.13853|.	T|.	0.58|.	-24.2844|-24.2844	10.1583|10.1583	0.42836|0.42836	0.0:0.5021:0.0:0.4979|0.0:0.5021:0.0:0.4979	.|.	418;173;418|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	D|M	373;418;365;373;365;418;418|174	.|.	ENSP00000350428:E418D|.	E|R	-|-	3|2	2|0	PHTF1|PHTF1	114054414|114054414	0.880000|0.880000	0.30214|0.30214	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	-0.200000|-0.200000	0.09478|0.09478	-0.070000|-0.070000	0.12908|0.12908	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.473	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		48	95	1	0	4.0306e-16	1	4.46716e-16	48	95				
FOXK1	221937	broad.mit.edu	37	7	4796681	4796681	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:4796681C>G	ENST00000328914.4	+	5	1107	c.1107C>G	c.(1105-1107)tcC>tcG	p.S369S	FOXK1_ENST00000446823.1_Silent_p.S206S	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCCACGTTCCCAGGAGGAGC	0.527																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1105-1107)tcC>tcG		forkhead box K1							75.0	81.0	79.0					7																	4796681		2203	4300	6503	SO:0001819	synonymous_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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.chr7:4796681C>G	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1107C>G	7.37:g.4796681C>G						FOXK1_ENST00000446823.1_Silent_p.S206S	p.S369S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1107	+		Ovarian(82;0.0175)	369						Silent	SNP	ENST00000328914.4	37	c.1107C>G	CCDS34591.1																																																																																				0.527	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			7	86	0	0	0	1	0	7	86				
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000542445.1_5'Flank|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e21-1		thyroglobulin							71.0	65.0	67.0					8																	133931619		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133931619A>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4379-1A>T	8.37:g.133931619A>T						TG_ENST00000377869.1_Splice_Site		NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4418	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)						O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37		CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	9.738	1.164036	0.21538	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3216	0.54987	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TG	134000801	1.000000	0.71417	0.712000	0.30502	0.161000	0.22273	5.922000	0.70036	2.225000	0.72522	0.533000	0.62120	.		0.418	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Intron	8	108	0	0	0	1	0	8	108				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	5	68	0	0	0	1	0	5	68				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T						FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site		NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	8	167	0	0	0	1	0	8	167				
SMARCA1	6594	broad.mit.edu	37	X	128624166	128624166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:128624166G>A	ENST00000371122.4	-	15	1948	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	607	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGATGTGCTCGATCCTAGTAG	0.328																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1819-1821)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							100.0	84.0	89.0					X																	128624166		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624166G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1819C>T	X.37:g.128624166G>A	ENSP00000360163:p.Arg607*					SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*	p.R607*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	1948	-			607			Helicase C-terminal.		Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.1819C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	40	8.504495	0.98841	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6028	13.2658	0.60133	0.0:0.0:0.8415:0.1585	.	.	.	.	X	595;595;607;586	.	ENSP00000360162:R595X	R	-	1	2	SMARCA1	128451847	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.813000	0.99286	2.340000	0.79590	0.462000	0.41574	CGA		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		44	110	0	0	0	1	0	44	110				
DENND5A	23258	broad.mit.edu	37	11	9225264	9225264	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:9225264C>T	ENST00000328194.3	-	4	1212	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	DENND5A_ENST00000530044.1_Missense_Mutation_p.V298M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	298	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTGAAACACATTCTCCACC	0.478																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(892-894)Gtg>Atg		DENN/MADD domain containing 5A							73.0	79.0	77.0					11																	9225264		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225264C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.892G>A	11.37:g.9225264C>T	ENSP00000328524:p.Val298Met					DENND5A_ENST00000530044.1_Missense_Mutation_p.V298M	p.V298M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	1212	-			298			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.892G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639925	0.47153	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.13657	2.57;2.57	5.31	5.31	0.75309	DENN (3);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.46885	1.475	0.80722	D	1	B;B	0.33549	0.417;0.031	B;B	0.41666	0.363;0.062	T	0.01771	-1.1277	10	0.45353	T	0.12	.	13.2952	0.60292	0.0:0.924:0.0:0.076	.	298;298	E9PS91;Q6IQ26	.;DEN5A_HUMAN	M	298	ENSP00000328524:V298M;ENSP00000435866:V298M	ENSP00000328524:V298M	V	-	1	0	DENND5A	9181840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.317000	0.51968	2.471000	0.83476	0.650000	0.86243	GTG		0.478	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		12	156	0	0	0	1	0	12	156				
FBN1	2200	broad.mit.edu	37	15	48808494	48808494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:48808494G>T	ENST00000316623.5	-	11	1668	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	405	Pro-rich.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGCCAAGGGGTGGGGGAGGA	0.498																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(1213-1215)Ccc>Acc		fibrillin 1							87.0	92.0	91.0					15																	48808494		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48808494G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1213C>A	15.37:g.48808494G>T	ENSP00000325527:p.Pro405Thr						p.P405T	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	11	1668	-		all_lung(180;0.00279)	405			Pro-rich.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1213C>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936129	0.34189	.	.	ENSG00000166147	ENST00000316623	T	0.81163	-1.46	5.54	5.54	0.83059	.	0.170949	0.52532	D	0.000071	T	0.70771	0.3262	L	0.29908	0.895	0.80722	D	1	P	0.34522	0.455	B	0.33568	0.166	T	0.66913	-0.5803	10	0.18276	T	0.48	.	16.3373	0.83068	0.0:0.0:1.0:0.0	.	405	P35555	FBN1_HUMAN	T	405	ENSP00000325527:P405T	ENSP00000325527:P405T	P	-	1	0	FBN1	46595786	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	5.125000	0.64715	2.884000	0.98904	0.655000	0.94253	CCC		0.498	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			48	127	1	0	1.21353e-23	1	1.36912e-23	48	127				
ATP11A	23250	broad.mit.edu	37	13	113516849	113516849	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:113516849A>T	ENST00000487903.1	+	25	3039	c.2951A>T	c.(2950-2952)tAt>tTt	p.Y984F	ATP11A_ENST00000375630.2_Missense_Mutation_p.Y984F|ATP11A_ENST00000375645.3_Missense_Mutation_p.Y984F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y984F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	984					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				TTTGGTGCTTATTTCGTGTTT	0.527																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2950-2952)tAt>tTt		ATPase, class VI, type 11A							193.0	147.0	162.0					13																	113516849		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113516849A>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2951A>T	13.37:g.113516849A>T	ENSP00000420387:p.Tyr984Phe					ATP11A_ENST00000375645.3_Missense_Mutation_p.Y984F|ATP11A_ENST00000375630.2_Missense_Mutation_p.Y984F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y984F	p.Y984F			P98196	AT11A_HUMAN			25	3039	+	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_lung(25;0.134)|all_epithelial(44;0.141)	984					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.2951A>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065527	0.55539	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.21	5.21	0.72293	.	0.058675	0.64402	D	0.000001	T	0.63462	0.2513	L	0.58302	1.8	0.51767	D	0.999933	B;B	0.14438	0.01;0.002	B;B	0.17979	0.02;0.005	T	0.59658	-0.7413	10	0.30078	T	0.28	.	15.1033	0.72299	1.0:0.0:0.0:0.0	.	984;984	E9PEJ6;P98196	.;AT11A_HUMAN	F	984	ENSP00000420387:Y984F;ENSP00000364781:Y984F;ENSP00000364796:Y984F;ENSP00000283558:Y984F	ENSP00000283558:Y984F	Y	+	2	0	ATP11A	112564850	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	6.441000	0.73439	1.957000	0.56846	0.459000	0.35465	TAT		0.527	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		4	69	0	0	0	1	0	4	69				
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		transcription factor 23							103.0	111.0	108.0					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	519	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		4	386	0	0	0	1	0	4	386				
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(8560-8562)tTa>tAa		dynein, axonemal, heavy chain 7							251.0	237.0	241.0					2																	196720569		1836	4096	5932	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196720569A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8561T>A	2.37:g.196720569A>T	ENSP00000311273:p.Leu2854*						p.L2854*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			45	8661	-			2854			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.8561T>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	48	14.008433	0.99775	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.31	2.89	0.33648	.	0.640279	0.14533	N	0.313770	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	3.1499	0.06484	0.3715:0.0:0.1842:0.4443	.	.	.	.	X	2854	.	ENSP00000311273:L2854X	L	-	2	0	DNAH7	196428814	0.005000	0.15991	0.003000	0.11579	0.312000	0.27988	0.845000	0.27668	0.440000	0.26502	0.455000	0.32223	TTA		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	603	0	0	0	1	0	6	603				
FRMD7	90167	broad.mit.edu	37	X	131212796	131212796	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:131212796T>A	ENST00000298542.4	-	12	1424	c.1249A>T	c.(1249-1251)Att>Ttt	p.I417F	FRMD7_ENST00000464296.1_Missense_Mutation_p.I402F|FRMD7_ENST00000370879.1_Missense_Mutation_p.I297F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	417					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCATATAAATAAAAGGGAAA	0.463																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1249-1251)Att>Ttt		FERM domain containing 7							147.0	138.0	141.0					X																	131212796		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212796T>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1249A>T	X.37:g.131212796T>A	ENSP00000298542:p.Ile417Phe					FRMD7_ENST00000370879.1_Missense_Mutation_p.I297F|FRMD7_ENST00000464296.1_Missense_Mutation_p.I402F	p.I417F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1424	-	Acute lymphoblastic leukemia(192;0.000127)		417					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1249A>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818293	0.32145	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87966	-2.32;-1.96;-2.07	5.97	-1.32	0.09201	.	0.760888	0.12581	N	0.456419	T	0.79924	0.4530	L	0.51422	1.61	0.28753	N	0.901349	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.67292	-0.5707	10	0.66056	D	0.02	.	4.0951	0.09986	0.2128:0.0634:0.4317:0.2921	.	402;417	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	F	297;417;402	ENSP00000359916:I297F;ENSP00000298542:I417F;ENSP00000417996:I402F	ENSP00000298542:I417F	I	-	1	0	FRMD7	131040477	0.533000	0.26354	0.951000	0.38953	0.981000	0.71138	-0.064000	0.11636	-0.616000	0.05671	0.486000	0.48141	ATT		0.463	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		4	189	0	0	0	1	0	4	189				
MUC13	56667	broad.mit.edu	37	3	124646473	124646473	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:124646473A>T	ENST00000311075.3	-	2	455	c.417T>A	c.(415-417)agT>agA	p.S139R	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	140	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTTCATTGTTACTTTGTGTTT	0.438																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(415-417)agT>agA		mucin 13, cell surface associated							232.0	214.0	220.0					3																	124646473		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646473A>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.417T>A	3.37:g.124646473A>T	ENSP00000312235:p.Ser139Arg						p.S139R	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			2	455	-			139			Thr-rich.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.417T>A		.	.	.	.	.	.	.	.	.	.	A	10.22	1.289262	0.23478	.	.	ENSG00000173702	ENST00000311075	T	0.14766	2.48	2.81	-5.61	0.02489	.	3.600550	0.01078	N	0.004932	T	0.11580	0.0282	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.50270	0.636	T	0.22138	-1.0225	10	0.15499	T	0.54	0.0125	7.4986	0.27505	0.2678:0.1643:0.5679:0.0	.	139	Q9H3R2	MUC13_HUMAN	R	139	ENSP00000312235:S139R	ENSP00000312235:S139R	S	-	3	2	MUC13	126129163	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.267000	0.08619	-1.700000	0.01414	-0.411000	0.06167	AGT		0.438	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		7	322	0	0	0	1	0	7	322				
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642																																						ENST00000400368.1																			1	Substitution - Missense(1)	p.H268Q(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(802-804)caC>caG		keratin associated protein 10-6							114.0	116.0	116.0					21																	46011562		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011562G>C	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.804C>G	21.37:g.46011562G>C	ENSP00000383219:p.His268Gln					TSPEAR_ENST00000323084.4_Intron	p.H268Q	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	824	-			268			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.804C>G	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.152357	0.00028	.	.	ENSG00000188155	ENST00000400368	T	0.00695	5.83	1.71	-3.41	0.04839	.	.	.	.	.	T	0.00210	0.0006	N	0.00029	-2.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52094	-0.8621	9	0.45353	T	0.12	.	2.3081	0.04179	0.1478:0.4281:0.2702:0.1539	.	268	P60371	KR106_HUMAN	Q	268	ENSP00000383219:H268Q	ENSP00000383219:H268Q	H	-	3	2	KRTAP10-6	44835990	0.000000	0.05858	0.017000	0.16124	0.069000	0.16628	-8.207000	0.00023	-3.236000	0.00208	-2.876000	0.00098	CAC		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		6	508	0	0	0	1	0	6	508				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_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_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W	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		7	609	0	0	0	1	0	7	609				
TAF1L	138474	broad.mit.edu	37	9	32632433	32632433	+	Missense_Mutation	SNP	G	G	A	rs535964605		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32632433G>A	ENST00000242310.4	-	1	3234	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1049					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1049C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATTGTGCGCACCACATCA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21860	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			1	Substitution - Missense(1)	p.R1049C(1)	kidney(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3145-3147)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							223.0	221.0	222.0					9																	32632433		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632433G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3145C>T	9.37:g.32632433G>A	ENSP00000418379:p.Arg1049Cys						p.R1049C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3234	-			1049					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3145C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437424	0.62955	.	.	ENSG00000122728	ENST00000242310	T	0.17054	2.3	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23048	-1.0199	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1049	Q8IZX4	TAF1L_HUMAN	C	1049	ENSP00000418379:R1049C	ENSP00000418379:R1049C	R	-	1	0	TAF1L	32622433	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	2.905000	0.48727	0.507000	0.28148	0.195000	0.17529	CGC		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	436	0	0	0	1	0	4	436				
CCDC181	57821	broad.mit.edu	37	1	169390644	169390644	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:169390644A>T	ENST00000367806.3	-	3	1177	c.1025T>A	c.(1024-1026)cTa>cAa	p.L342Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.L342Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	342						nucleus (GO:0005634)											TTGTTTTTGTAGTTCTTTCTG	0.363																																						ENST00000545005.1																			0											c.(1024-1026)cTa>cAa		coiled-coil domain containing 181							75.0	71.0	72.0					1																	169390644		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390644A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1025T>A	1.37:g.169390644A>T	ENSP00000356780:p.Leu342Gln					CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L342Q	p.L342Q							4	1532	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1025T>A		.	.	.	.	.	.	.	.	.	.	A	14.71	2.617264	0.46736	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.34072	1.38;1.38;1.38;1.53	5.17	4.07	0.47477	.	0.152431	0.44097	D	0.000485	T	0.47248	0.1435	M	0.71581	2.175	0.46260	D	0.998952	D;D;D	0.63046	0.992;0.992;0.992	D;P;P	0.67900	0.954;0.868;0.868	T	0.56025	-0.8047	9	0.87932	D	0	-6.5351	12.9548	0.58421	0.8337:0.1663:0.0:0.0	.	342;342;342	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	342	ENSP00000356779:L342Q;ENSP00000356780:L342Q;ENSP00000442297:L342Q;ENSP00000411000:L342Q	ENSP00000356779:L342Q	L	-	2	0	C1orf114	167657268	0.999000	0.42202	0.998000	0.56505	0.387000	0.30353	3.781000	0.55394	1.947000	0.56498	0.374000	0.22700	CTA		0.363	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		5	210	0	0	0	1	0	5	210				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			55073							g.chr17:43587569G>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.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	19	0	0	0	1	0	4	19				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T						CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site				Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	10	480	0	0	0	1	0	10	480				
TAF2	6873	broad.mit.edu	37	8	120756635	120756635	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:120756635T>A	ENST00000378164.2	-	24	3407		c.e24-2		TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGGAAAACTAAAACACACA	0.378																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.e24-2		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							113.0	113.0	113.0					8																	120756635		2203	4300	6503	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756635T>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3109-2A>T	8.37:g.120756635T>A								NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3407	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37		CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766990	0.49574	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8211	0.70074	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF2	120825816	1.000000	0.71417	0.991000	0.47740	0.672000	0.39443	7.681000	0.84073	2.096000	0.63516	0.383000	0.25322	.		0.378	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	5	169	0	0	0	1	0	5	169				
FLT1	2321	broad.mit.edu	37	13	28895678	28895678	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:28895678C>A	ENST00000282397.4	-	23	3347	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FLT1_ENST00000540678.1_Missense_Mutation_p.E250D|FLT1_ENST00000543394.1_Missense_Mutation_p.E55D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACGTTGTTCTCAGATAAAA	0.373																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3094-3096)gaG>gaT		fms-related tyrosine kinase 1	Sunitinib(DB01268)						136.0	121.0	126.0					13																	28895678		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28895678C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3096G>T	13.37:g.28895678C>A	ENSP00000282397:p.Glu1032Asp					FLT1_ENST00000540678.1_Missense_Mutation_p.E250D|FLT1_ENST00000543394.1_Missense_Mutation_p.E55D	p.E1032D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	23	3347	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1032			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3096G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241242	0.39598	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.83506	-1.73;-1.73;-1.73	5.84	1.64	0.23874	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.237208	0.42821	N	0.000641	T	0.59636	0.2208	N	0.04162	-0.26	0.80722	D	1	B	0.15930	0.015	B	0.16289	0.015	T	0.49351	-0.8949	10	0.37606	T	0.19	.	5.0338	0.14423	0.0:0.4265:0.2994:0.2742	.	1032	P17948	VGFR1_HUMAN	D	1032;55;250	ENSP00000282397:E1032D;ENSP00000437841:E55D;ENSP00000443311:E250D	ENSP00000282397:E1032D	E	-	3	2	FLT1	27793678	0.391000	0.25221	1.000000	0.80357	0.995000	0.86356	-0.362000	0.07602	0.793000	0.33875	-0.137000	0.14449	GAG		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	154	1	0	0.000602214	1	0.000627901	4	154				
OR4K13	390433	broad.mit.edu	37	14	20502562	20502562	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:20502562G>A	ENST00000315693.2	-	1	357	c.356C>T	c.(355-357)gCa>gTa	p.A119V	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTGTCTATTGCCATGGCTAC	0.498																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(355-357)gCa>gTa		olfactory receptor, family 4, subfamily K, member 13							104.0	101.0	102.0					14																	20502562		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502562G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.356C>T	14.37:g.20502562G>A	ENSP00000319322:p.Ala119Val						p.A119V	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	357	-	all_cancers(95;0.00108)		119					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.356C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.004121	0.54254	.	.	ENSG00000176253	ENST00000315693	T	0.55588	0.51	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001566	T	0.78780	0.4337	H	0.95645	3.7	0.35333	D	0.785754	D	0.69078	0.997	D	0.69479	0.964	D	0.89214	0.3566	10	0.87932	D	0	.	14.1412	0.65320	0.0:0.0:1.0:0.0	.	119	Q8NH42	OR4KD_HUMAN	V	119	ENSP00000319322:A119V	ENSP00000319322:A119V	A	-	2	0	OR4K13	19572402	1.000000	0.71417	0.946000	0.38457	0.024000	0.10985	8.286000	0.89916	1.848000	0.53677	0.508000	0.49915	GCA		0.498	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			6	807	0	0	0	1	0	6	807				
CALCRL	10203	broad.mit.edu	37	2	188223858	188223858	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:188223858T>A	ENST00000409998.1	-	13	1624		c.e13-2		CALCRL_ENST00000392370.3_Splice_Site|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Splice_Site|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATCCAGCAACTAGAGAAAACA	0.303																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.e13-2		calcitonin receptor-like							131.0	137.0	135.0					2																	188223858		2203	4300	6503	SO:0001630	splice_region_variant	10203					integral to plasma membrane		g.chr2:188223858T>A	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.843-2A>T	2.37:g.188223858T>A						AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Splice_Site|CALCRL_ENST00000410068.1_Splice_Site				Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		13	1624	-								A8K6G5|A8KAD3|Q53S02|Q53TS5	Splice_Site	SNP	ENST00000409998.1	37		CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327101	0.60743	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6247	0.68614	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CALCRL	187932103	1.000000	0.71417	0.786000	0.31890	0.552000	0.35366	8.040000	0.89188	2.064000	0.61679	0.533000	0.62120	.		0.303	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	Intron	6	225	0	0	0	1	0	6	225				
SLC6A1	6529	broad.mit.edu	37	3	11076335	11076335	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:11076335C>A	ENST00000287766.4	+	15	2067	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.P371H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	549					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GTCCTCATCCCCGGGTACATG	0.572																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1645-1647)cCc>cAc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						165.0	138.0	147.0					3																	11076335		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11076335C>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1646C>A	3.37:g.11076335C>A	ENSP00000287766:p.Pro549His					SLC6A1_ENST00000536032.1_Missense_Mutation_p.P371H	p.P549H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	15	2067	+		Ovarian(110;0.0392)	549					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1646C>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767665	0.90020	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.80824	-1.42;-1.42	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	D	0.94231	0.8148	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95807	0.8838	10	0.87932	D	0	.	19.9758	0.97304	0.0:1.0:0.0:0.0	.	549	P30531	SC6A1_HUMAN	H	549;371	ENSP00000287766:P549H;ENSP00000445171:P371H	ENSP00000287766:P549H	P	+	2	0	SLC6A1	11051335	1.000000	0.71417	0.974000	0.42286	0.945000	0.59286	7.572000	0.82409	2.723000	0.93209	0.650000	0.86243	CCC		0.572	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	230	1	0	0.0477658	1	0.0486503	7	230				
SMYD2	56950	broad.mit.edu	37	1	214507541	214507541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:214507541A>T	ENST00000366957.5	+	11	1134		c.e11-1		SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CTCTTGTTCTAGTAAGCACTA	0.572																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.e11-1		SET and MYND domain containing 2							228.0	210.0	216.0					1																	214507541		2203	4300	6503	SO:0001630	splice_region_variant	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214507541A>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1113-1A>T	1.37:g.214507541A>T						SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR		NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	11	1134	+								B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Splice_Site	SNP	ENST00000366957.5	37		CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904099	0.92035	.	.	ENSG00000143499	ENST00000366957	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMYD2	212574164	1.000000	0.71417	0.815000	0.32552	0.534000	0.34807	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	.		0.572	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197	Intron	5	303	0	0	0	1	0	5	303				
TNK1	8711	broad.mit.edu	37	17	7291835	7291835	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7291835G>T	ENST00000576812.1	+	11	1972	c.1603G>T	c.(1603-1605)Ggc>Tgc	p.G535C	TNK1_ENST00000570896.1_Missense_Mutation_p.G530C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGGACCTCCAGGCCTGCCTCC	0.612																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(1588-1590)Ggc>Tgc		tyrosine kinase, non-receptor, 1							48.0	60.0	56.0					17																	7291835		2008	4166	6174	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7291835G>T	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1603G>T	17.37:g.7291835G>T	ENSP00000459799:p.Gly535Cys					TNK1_ENST00000576812.1_Missense_Mutation_p.G535C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C	p.G530C			Q13470	TNK1_HUMAN			12	2034	+		Prostate(122;0.157)	535			Pro-rich.			Missense_Mutation	SNP	ENST00000576812.1	37	c.1588G>T	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078313	0.36662	.	.	ENSG00000174292	ENST00000311668	T	0.75938	-0.98	4.18	3.21	0.36854	.	0.777035	0.11366	N	0.571361	T	0.64394	0.2594	N	0.08118	0	0.25261	N	0.989598	P;P	0.48407	0.91;0.855	P;B	0.50617	0.646;0.443	T	0.56805	-0.7918	10	0.59425	D	0.04	.	10.4025	0.44237	0.0975:0.0:0.9025:0.0	.	530;535	Q13470-2;Q13470	.;TNK1_HUMAN	C	530	ENSP00000312309:G530C	ENSP00000312309:G530C	G	+	1	0	TNK1	7232559	1.000000	0.71417	0.476000	0.27291	0.545000	0.35147	2.393000	0.44442	1.373000	0.46208	0.655000	0.94253	GGC		0.612	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		25	33	1	0	3.7963e-18	1	4.23953e-18	25	33				
LGALS2	3957	broad.mit.edu	37	22	37966589	37966589	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:37966589C>A	ENST00000215886.4	-	3	417	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	81	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCACCTTGACCTCTGACCCTG	0.582																																					GBM(193;1840 2185 13711 20676 24505)	ENST00000215886.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11						c.(241-243)gaG>gaT		lectin, galactoside-binding, soluble, 2							192.0	166.0	175.0					22																	37966589		2203	4300	6503	SO:0001583	missense	3957							g.chr22:37966589C>A		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.243G>T	22.37:g.37966589C>A	ENSP00000215886:p.Glu81Asp						p.E81D	NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN			3	417	-	Melanoma(58;0.0574)		81			Galectin.		Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	c.243G>T	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401905	0.42613	.	.	ENSG00000100079	ENST00000215886	T	0.05786	3.39	5.97	1.54	0.23209	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.137629	0.64402	N	0.000004	T	0.05410	0.0143	L	0.58101	1.795	0.35133	D	0.768106	B	0.10296	0.003	B	0.09377	0.004	T	0.27706	-1.0066	10	0.15952	T	0.53	-49.1233	2.6383	0.04964	0.1381:0.5252:0.1203:0.2164	.	81	P05162	LEG2_HUMAN	D	81	ENSP00000215886:E81D	ENSP00000215886:E81D	E	-	3	2	LGALS2	36296535	0.055000	0.20627	0.996000	0.52242	0.985000	0.73830	-0.340000	0.07821	0.402000	0.25451	0.655000	0.94253	GAG		0.582	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		7	347	1	0	0.00198382	1	0.00205868	7	347				
ENO3	2027	broad.mit.edu	37	17	4858509	4858509	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:4858509T>C	ENST00000323997.6	+	7	716	c.584T>C	c.(583-585)gTc>gCc	p.V195A	ENO3_ENST00000518175.1_Missense_Mutation_p.V195A|ENO3_ENST00000519584.1_Missense_Mutation_p.V152A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	195					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTCAAGGGGGTCATCAAGGCC	0.572																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(583-585)gTc>gCc		enolase 3 (beta, muscle)							92.0	81.0	85.0					17																	4858509		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858509T>C	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.584T>C	17.37:g.4858509T>C	ENSP00000324105:p.Val195Ala					ENO3_ENST00000519584.1_Missense_Mutation_p.V152A|ENO3_ENST00000518175.1_Missense_Mutation_p.V195A	p.V195A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			7	716	+			195					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.584T>C	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867614	0.91587	.	.	ENSG00000108515	ENST00000519602;ENST00000323997;ENST00000519584;ENST00000518175	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.7	5.7	0.88788	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77425	0.4128	M	0.92833	3.35	0.80722	D	1	P;P;D;P	0.56746	0.955;0.929;0.977;0.955	D;P;P;D	0.65573	0.936;0.879;0.885;0.936	T	0.83056	-0.0150	10	0.72032	D	0.01	-15.0507	13.9511	0.64118	0.0:0.0:0.0:1.0	.	195;152;102;195	P13929;P13929-3;D3DTL4;D3DTL2	ENOB_HUMAN;.;.;.	A	195;195;152;195	ENSP00000430055:V195A;ENSP00000324105:V195A;ENSP00000430636:V152A;ENSP00000431087:V195A	ENSP00000324105:V195A	V	+	2	0	ENO3	4799255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.184000	0.69523	0.477000	0.44152	GTC		0.572	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			9	700	0	0	0	1	0	9	700				
PAK1IP1	55003	broad.mit.edu	37	6	10709469	10709469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:10709469A>T	ENST00000379568.3	+	10	1255		c.e10-1			NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1						cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTTGTGTTTTAGTAAGTAAAG	0.368																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.e10-1		PAK1 interacting protein 1							54.0	53.0	54.0					6																	10709469		2202	4300	6502	SO:0001630	splice_region_variant	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10709469A>T	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.965-1A>T	6.37:g.10709469A>T								NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN			10	1255	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)						Q5T4J2|Q96QJ8|Q96T87	Splice_Site	SNP	ENST00000379568.3	37		CCDS34339.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743285	0.30865	.	.	ENSG00000111845	ENST00000379568	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5993	0.33734	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK1IP1	10817455	0.713000	0.27926	0.529000	0.27951	0.488000	0.33401	2.086000	0.41643	1.604000	0.50143	0.460000	0.39030	.		0.368	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906	Intron	4	51	0	0	0	1	0	4	51				
ENO1	2023	broad.mit.edu	37	1	8926510	8926510	+	Missense_Mutation	SNP	C	C	A	rs11544509		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:8926510C>A	ENST00000234590.4	-	7	614	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	165	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGAACTCCTGCATGGCCAGCT	0.547																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(493-495)atG>atT		enolase 1, (alpha)							113.0	108.0	109.0					1																	8926510		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926510C>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.495G>T	1.37:g.8926510C>A	ENSP00000234590:p.Met165Ile						p.M165I	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	614	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	165			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.495G>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914938	0.92178	.	.	ENSG00000074800	ENST00000234590	T	0.49432	0.78	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.039097	0.85682	N	0.000000	T	0.54854	0.1884	L	0.44542	1.39	0.58432	D	0.999995	B;B;P;B;B	0.44986	0.234;0.352;0.847;0.196;0.146	B;P;P;B;B	0.51101	0.385;0.652;0.659;0.266;0.385	T	0.57997	-0.7714	10	0.87932	D	0	-31.7932	18.013	0.89230	0.0:1.0:0.0:0.0	.	69;132;3;72;165	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	I	165	ENSP00000234590:M165I	ENSP00000234590:M165I	M	-	3	0	ENO1	8849097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.784000	0.85713	2.492000	0.84095	0.563000	0.77884	ATG		0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		299	150	1	0	4.02062e-123	1	4.71752e-123	299	150				
ABCC8	6833	broad.mit.edu	37	11	17426095	17426095	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:17426095C>T	ENST00000389817.3	-	28	3589	c.3521G>A	c.(3520-3522)tGc>tAc	p.C1174Y	ABCC8_ENST00000302539.4_Missense_Mutation_p.C1175Y			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1174	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GATGAAGTAGCACACGATGGC	0.597																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3523-3525)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						103.0	78.0	87.0					11																	17426095		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17426095C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3521G>A	11.37:g.17426095C>T	ENSP00000374467:p.Cys1174Tyr					ABCC8_ENST00000389817.3_Missense_Mutation_p.C1174Y	p.C1175Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	28	3649	-			1174			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3524G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	4.319	0.058499	0.08339	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.87887	-2.31;-2.31	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	N	0.00985	-1.075	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.68557	-0.5377	10	0.02654	T	1	.	19.0064	0.92852	0.0:1.0:0.0:0.0	.	1174	Q09428	ABCC8_HUMAN	Y	1174;1175	ENSP00000374467:C1174Y;ENSP00000303960:C1175Y	ENSP00000303960:C1175Y	C	-	2	0	ABCC8	17382671	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.883000	0.63128	2.477000	0.83638	0.514000	0.50259	TGC		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		8	149	0	0	0	1	0	8	149				
NTRK1	4914	broad.mit.edu	37	1	156843581	156843581	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:156843581C>A	ENST00000524377.1	+	8	1048	c.1007C>A	c.(1006-1008)gCa>gAa	p.A336E	NTRK1_ENST00000392302.2_Missense_Mutation_p.A306E|NTRK1_ENST00000358660.3_Missense_Mutation_p.A336E|NTRK1_ENST00000368196.3_Missense_Mutation_p.A336E	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	336	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A336E(3)|p.A306E(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGGAGCCGGCAGCCAATGAG	0.622			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		6	Substitution - Missense(6)	p.A336E(3)|p.A306E(3)	endometrium(4)|kidney(2)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1006-1008)gCa>gAa		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						46.0	35.0	39.0					1																	156843581		2203	4299	6502	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843581C>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1007C>A	1.37:g.156843581C>A	ENSP00000431418:p.Ala336Glu	TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Missense_Mutation_p.A306E|NTRK1_ENST00000358660.3_Missense_Mutation_p.A336E|NTRK1_ENST00000524377.1_Missense_Mutation_p.A336E	p.A336E	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			8	1127	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		336			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1007C>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	8.154	0.788039	0.16258	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.17	2.08	0.27032	Immunoglobulin-like fold (1);	0.558200	0.17457	N	0.173565	T	0.05318	0.0141	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.12630	0.006;0.003;0.001;0.005	B;B;B;B	0.12837	0.004;0.004;0.002;0.008	T	0.36529	-0.9744	10	0.21540	T	0.41	.	2.0518	0.03572	0.1195:0.4548:0.2106:0.2151	.	336;336;336;306	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	E	306;336;336;336	ENSP00000376120:A306E;ENSP00000357179:A336E;ENSP00000431418:A336E;ENSP00000351486:A336E	ENSP00000351486:A336E	A	+	2	0	NTRK1	155110205	0.000000	0.05858	0.004000	0.12327	0.742000	0.42306	0.343000	0.19944	0.490000	0.27771	0.655000	0.94253	GCA		0.622	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		4	45	1	0	1	1	1	4	45				
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:141759688T>C	ENST00000549489.2	+	33	4076	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000475668.2_Silent_p.P1327P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463																																						ENST00000475668.2																			2	Substitution - coding silent(2)	p.P1327P(2)	prostate(2)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3979-3981)ccT>ccC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50.0	43.0	45.0					7																	141759688		1935	4135	6070	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759688T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3981T>C	7.37:g.141759688T>C						MGAM_ENST00000549489.2_Silent_p.P1327P	p.P1327P			O43451	MGA_HUMAN			33	4035	+	Melanoma(164;0.0272)		1327			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3981T>C	CCDS47727.1																																																																																				0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	66	0	0	0	1	0	3	66				
MAVS	57506	broad.mit.edu	37	20	3845153	3845153	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:3845153C>T	ENST00000428216.2	+	6	1004	c.876C>T	c.(874-876)aaC>aaT	p.N292N	MAVS_ENST00000416600.2_Silent_p.N151N|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	292					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCTGCCAACTCTCTGCCCT	0.602																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(874-876)aaC>aaT		mitochondrial antiviral signaling protein							87.0	75.0	79.0					20																	3845153		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845153C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.876C>T	20.37:g.3845153C>T						MAVS_ENST00000416600.2_Silent_p.N151N|MAVS_ENST00000358134.6_3'UTR	p.N292N	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	1004	+			292					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.876C>T	CCDS33437.1																																																																																				0.602	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		12	44	0	0	0	1	0	12	44				
MYBL2	4605	broad.mit.edu	37	20	42311445	42311445	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:42311445C>T	ENST00000217026.4	+	4	325	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYBL2_ENST00000396863.4_Silent_p.D42D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	66	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGCACTGACCAGCAATGCC	0.527																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(196-198)gaC>gaT		v-myb avian myeloblastosis viral oncogene homolog-like 2							227.0	223.0	224.0					20																	42311445		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42311445C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.198C>T	20.37:g.42311445C>T						MYBL2_ENST00000396863.4_Silent_p.D42D	p.D66D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	325	+		Myeloproliferative disorder(115;0.00452)	66			HTH myb-type 1.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.198C>T	CCDS13322.1																																																																																				0.527	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		25	1469	0	0	0	1	0	25	1469				
PDP2	57546	broad.mit.edu	37	16	66918367	66918367	+	Silent	SNP	C	C	T	rs79985162		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:66918367C>T	ENST00000311765.2	+	2	514	c.180C>T	c.(178-180)tgC>tgT	p.C60C	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	60					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTACTCTGTGCAAAGCCTACA	0.473																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(178-180)tgC>tgT		pyruvate dehyrogenase phosphatase catalytic subunit 2							73.0	78.0	76.0					16																	66918367		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918367C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.180C>T	16.37:g.66918367C>T						PDP2_ENST00000568720.1_Intron	p.C60C	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	514	+		Ovarian(137;0.0563)	60					A8K924	Silent	SNP	ENST00000311765.2	37	c.180C>T	CCDS10822.1																																																																																				0.473	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		22	187	0	0	0	1	0	22	187				
OTOF	9381	broad.mit.edu	37	2	26703722	26703722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:26703722C>G	ENST00000272371.2	-	15	1861	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Missense_Mutation_p.D579H|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000402415.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	579					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)					TTGGAGGTGTCTACGATCTCC	0.662																																					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.(1735-1737)Gac>Cac		otoferlin							53.0	51.0	52.0					2																	26703722		2203	4300	6503	SO:0001583	missense	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.chr2:26703722C>G	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.1735G>C	2.37:g.26703722C>G	ENSP00000272371:p.Asp579His					OTOF_ENST00000403946.3_Missense_Mutation_p.D579H	p.D579H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			15	1861	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		579					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1735G>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616640	0.87359	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.81415	-1.49;-1.49	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.91558	0.5262	10	0.72032	D	0.01	-38.9833	18.3623	0.90379	0.0:1.0:0.0:0.0	.	579	Q9HC10	OTOF_HUMAN	H	579	ENSP00000272371:D579H;ENSP00000385255:D579H	ENSP00000272371:D579H	D	-	1	0	OTOF	26557226	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.651000	0.83577	2.435000	0.82474	0.462000	0.41574	GAC		0.662	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			5	17	0	0	0	1	0	5	17				
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000357948.3_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e26-2		Ca++-dependent secretion activator							89.0	96.0	94.0					3																	62451127		2203	4300	6503	SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451127T>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3553-2A>T	3.37:g.62451127T>A						CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000357948.3_Splice_Site|CADPS_ENST00000283269.9_Splice_Site		NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3902	-		Lung SC(41;0.0452)						A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37		CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180240	0.57800	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000473635;ENST00000357948;ENST00000283269;ENST00000466621	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62426167	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.698000	0.84413	2.288000	0.76882	0.482000	0.46254	.		0.368	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Intron	7	137	0	0	0	1	0	7	137				
NF1	4763	broad.mit.edu	37	17	29556075	29556075	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:29556075G>A	ENST00000358273.4	+	21	2825	c.2442G>A	c.(2440-2442)aaG>aaA	p.K814K	NF1_ENST00000356175.3_Silent_p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	814					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATTGTTAAGAGGCGAATGT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2440-2442)aaG>aaA		neurofibromin 1							38.0	35.0	36.0					17																	29556075		2202	4299	6501	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556075G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2442G>A	17.37:g.29556075G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.K814K	p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2825	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	814					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2442G>A	CCDS42292.1																																																																																				0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		68	87	0	0	0	1	0	68	87				
CEP63	80254	broad.mit.edu	37	3	134277147	134277147	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:134277147C>G	ENST00000337090.3	+	13	1804	c.1631C>G	c.(1630-1632)cCa>cGa	p.P544R	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.P544R|CEP63_ENST00000606977.1_Missense_Mutation_p.P544R|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	544					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCTTTAAACCAACACACAGC	0.299																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1630-1632)cCa>cGa		centrosomal protein 63kDa							60.0	61.0	61.0					3																	134277147		2203	4299	6502	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134277147C>G	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1631C>G	3.37:g.134277147C>G	ENSP00000336524:p.Pro544Arg					CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.P544R|CEP63_ENST00000513612.2_Missense_Mutation_p.P544R|CEP63_ENST00000383229.3_Intron	p.P544R			Q96MT8	CEP63_HUMAN			13	1804	+			544					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1631C>G	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.887|9.887	1.203210|1.203210	0.22121|0.22121	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000337090;ENST00000513612|ENST00000504929	T;T|.	0.16457|.	2.34;2.34|.	4.87|4.87	2.94|2.94	0.34122|0.34122	.|.	0.865013|.	0.10153|.	N|.	0.709361|.	T|T	0.39332|0.39332	0.1074|0.1074	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|.	0.32467|.	0.372|.	B|.	0.33196|.	0.159|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|5	0.15066|.	T|.	0.55|.	-6.0E-4|-6.0E-4	5.4788|5.4788	0.16710|0.16710	0.2602:0.6404:0.0:0.0994|0.2602:0.6404:0.0:0.0994	.|.	544|.	Q96MT8|.	CEP63_HUMAN|.	R|E	544|233	ENSP00000336524:P544R;ENSP00000426129:P544R|.	ENSP00000336524:P544R|.	P|Q	+|+	2|1	0|0	CEP63|CEP63	135759837|135759837	0.043000|0.043000	0.20138|0.20138	0.083000|0.083000	0.20561|0.20561	0.993000|0.993000	0.82548|0.82548	0.394000|0.394000	0.20834|0.20834	1.411000|1.411000	0.46957|0.46957	0.467000|0.467000	0.42956|0.42956	CCA|CAA		0.299	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		13	93	0	0	0	1	0	13	93				
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e18-1		A kinase (PRKA) anchor protein 9							33.0	34.0	34.0					7																	91667731		2202	4289	6491	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667731A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4375-1A>T	7.37:g.91667731A>T						AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site				Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4599	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)							A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37			.	.	.	.	.	.	.	.	.	.	A	19.69	3.874587	0.72180	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5989	0.62007	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91505667	1.000000	0.71417	0.954000	0.39281	0.937000	0.57800	5.928000	0.70088	2.008000	0.58898	0.477000	0.44152	.		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron	5	43	0	0	0	1	0	5	43				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T						NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	5	55	0	0	0	1	0	5	55				
FLG2	388698	broad.mit.edu	37	1	152324633	152324633	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152324633T>C	ENST00000388718.5	-	3	5701	c.5629A>G	c.(5629-5631)Aga>Gga	p.R1877G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1877					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCTCCTTCTTCCA	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5629-5631)Aga>Gga		filaggrin family member 2							332.0	295.0	308.0					1																	152324633		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324633T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5629A>G	1.37:g.152324633T>C	ENSP00000373370:p.Arg1877Gly					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R1877G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5701	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1877					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5629A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	5.752	0.323163	0.10900	.	.	ENSG00000143520	ENST00000388718	T	0.03242	4.0	4.44	-4.94	0.03057	.	.	.	.	.	T	0.00210	0.0006	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46775	-0.9167	9	0.02654	T	1	6.3453	5.7249	0.18008	0.1748:0.2425:0.0:0.5827	.	1877	Q5D862	FILA2_HUMAN	G	1877	ENSP00000373370:R1877G	ENSP00000373370:R1877G	R	-	1	2	FLG2	150591257	.	.	0.000000	0.03702	0.008000	0.06430	.	.	-0.787000	0.04510	-0.494000	0.04653	AGA		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1219	0	0	0	1	0	8	1219				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	197	0	0	0	1	0	7	197				
ZNF577	84765	broad.mit.edu	37	19	52381753	52381753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:52381753C>A	ENST00000301399.5	-	5	441	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	ZNF577_ENST00000420592.1_Nonsense_Mutation_p.E26*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E26*|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.E26*|ZNF577_ENST00000485702.1_5'UTR	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATCTTCGAATGACAAT	0.453																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(76-78)Gaa>Taa		zinc finger protein 577							118.0	102.0	108.0					19																	52381753		2203	4300	6503	SO:0001587	stop_gained	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52381753C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.76G>T	19.37:g.52381753C>A	ENSP00000301399:p.Glu26*					ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E26*|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.E26*|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.E26*	p.E26*			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	4	1409	-		all_neural(266;0.0602)	0			KRAB.		A8K0B4|A8K6Z7|C9JFB9	Nonsense_Mutation	SNP	ENST00000301399.5	37	c.76G>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	29.3	4.994116	0.93167	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	.	.	.	3.49	2.45	0.29901	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0422	0.19740	0.0:0.8582:0.0:0.1418	.	.	.	.	X	26	.	ENSP00000301399:E26X	E	-	1	0	ZNF577	57073565	0.824000	0.29247	0.764000	0.31436	0.504000	0.33889	1.157000	0.31724	1.923000	0.55706	0.591000	0.81541	GAA		0.453	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		22	675	1	0	1.7367e-05	1	1.84577e-05	22	675				
TUBB1	81027	broad.mit.edu	37	20	57599336	57599336	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:57599336C>T	ENST00000217133.1	+	4	1123	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	285					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGAGCCCTCTCCGTGGCCGAG	0.647																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(853-855)tCc>tTc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						51.0	46.0	48.0					20																	57599336		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599336C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.854C>T	20.37:g.57599336C>T	ENSP00000217133:p.Ser285Phe						p.S285F	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1123	+	all_lung(29;0.00711)		285						Missense_Mutation	SNP	ENST00000217133.1	37	c.854C>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517238	0.64634	.	.	ENSG00000101162	ENST00000217133	D	0.85629	-2.01	5.34	5.34	0.76211	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.364444	0.29861	N	0.011013	D	0.93766	0.8007	H	0.98701	4.305	0.20307	N	0.999919	P	0.47484	0.896	P	0.48524	0.58	D	0.89626	0.3852	10	0.87932	D	0	.	18.0067	0.89211	0.0:1.0:0.0:0.0	.	285	Q9H4B7	TBB1_HUMAN	F	285	ENSP00000217133:S285F	ENSP00000217133:S285F	S	+	2	0	TUBB1	57032731	0.643000	0.27269	0.023000	0.16930	0.943000	0.58893	6.037000	0.70956	2.509000	0.84616	0.561000	0.74099	TCC		0.647	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		56	72	0	0	0	1	0	56	72				
SAMD9	54809	broad.mit.edu	37	7	92732553	92732553	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:92732553G>A	ENST00000379958.2	-	3	3127	c.2858C>T	c.(2857-2859)aCa>aTa	p.T953I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	953						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTTTCTGTCCCCCAGAA	0.398																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2857-2859)aCa>aTa		sterile alpha motif domain containing 9							93.0	93.0	93.0					7																	92732553		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92732553G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2858C>T	7.37:g.92732553G>A	ENSP00000369292:p.Thr953Ile						p.T953I	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3127	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		953					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2858C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.357071	0.05138	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22743	1.94;2.74	5.04	-2.85	0.05734	.	1.365110	0.05115	N	0.489601	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30446	-0.9978	10	0.49607	T	0.09	1.1947	0.9653	0.01404	0.2797:0.1009:0.2226:0.3968	.	953	Q5K651	SAMD9_HUMAN	I	953	ENSP00000369292:T953I;ENSP00000414529:T953I	ENSP00000369292:T953I	T	-	2	0	SAMD9	92570489	0.003000	0.15002	0.005000	0.12908	0.595000	0.36748	0.196000	0.17176	-0.418000	0.07450	0.609000	0.83330	ACA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		3	119	0	0	0	1	0	3	119				
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.e5-1		absent in melanoma 1							129.0	126.0	127.0					6																	106975178		2203	4300	6503	SO:0001630	splice_region_variant	202						sugar binding	g.chr6:106975178A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3189-1A>T	6.37:g.106975178A>T								NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3675	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)						Q6P2P0|Q9BTM3	Splice_Site	SNP	ENST00000369066.3	37		CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126822	0.77549	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIM1	107081871	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	7.659000	0.83766	2.126000	0.65437	0.528000	0.53228	.		0.358	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Intron	5	112	0	0	0	1	0	5	112				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2635-2637)acT>acA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							162.0	168.0	166.0					9																	32541886		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541886A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2637T>A	9.37:g.32541886A>T						TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2753	-			879			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.2637T>A	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		8	199	0	0	0	1	0	8	199				
AHNAK2	113146	broad.mit.edu	37	14	105419890	105419890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:105419890A>T	ENST00000333244.5	-	7	2017	c.1898T>A	c.(1897-1899)tTa>tAa	p.L633*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	633						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGTCTTTTAATCCTTCCTC	0.413																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1897-1899)tTa>tAa		AHNAK nucleoprotein 2							444.0	451.0	448.0					14																	105419890		2059	4198	6257	SO:0001587	stop_gained	113146					nucleus		g.chr14:105419890A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1898T>A	14.37:g.105419890A>T	ENSP00000353114:p.Leu633*					AHNAK2_ENST00000557457.1_Intron	p.L633*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2017	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	633					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.1898T>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	23.3	4.402824	0.83230	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.68	-7.35	0.01422	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	5.4755	0.16694	0.3131:0.0:0.3868:0.3001	.	.	.	.	X	633	.	ENSP00000353114:L633X	L	-	2	0	AHNAK2	104490935	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.335000	0.07873	-2.353000	0.00615	-0.651000	0.03910	TTA		0.413	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	182	0	0	0	1	0	6	182				
OR2M2	391194	broad.mit.edu	37	1	248343613	248343613	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248343613G>A	ENST00000359682.2	+	1	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCACTGTCTGGCTCTGAATGT	0.413																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(325-327)gGc>gAc		olfactory receptor, family 2, subfamily M, member 2							199.0	213.0	209.0					1																	248343613		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343613G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.326G>A	1.37:g.248343613G>A	ENSP00000352710:p.Gly109Asp						p.G109D	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	326	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		109					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.326G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	11.18	1.562971	0.27915	.	.	ENSG00000198601	ENST00000359682	T	0.09723	2.95	1.41	0.0691	0.14372	GPCR, rhodopsin-like superfamily (1);	0.267324	0.19626	U	0.109782	T	0.24314	0.0589	M	0.73217	2.22	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.01791	-1.1273	10	0.87932	D	0	.	7.8032	0.29187	0.0:0.3679:0.632:0.0	.	109	Q96R28	OR2M2_HUMAN	D	109	ENSP00000352710:G109D	ENSP00000352710:G109D	G	+	2	0	OR2M2	246410236	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.390000	0.07332	0.755000	0.32990	0.454000	0.30748	GGC		0.413	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		8	488	0	0	0	1	0	8	488				
AICDA	57379	broad.mit.edu	37	12	8758017	8758017	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:8758017C>T	ENST00000229335.6	-	3	324	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	74					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCGGTAGCAGCGGCCAGGGTC	0.602																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(220-222)cGc>cAc		activation-induced cytidine deaminase							49.0	55.0	53.0					12																	8758017		2103	4239	6342	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758017C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.221G>A	12.37:g.8758017C>T	ENSP00000229335:p.Arg74His					AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	324	-	Lung SC(5;0.184)		74					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.221G>A	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.907280|2.907280	0.52333|0.52333	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.65549	.|-0.16;-0.16	5.43|5.43	4.54|4.54	0.55810|0.55810	.|APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.|0.118717	.|0.56097	.|D	.|0.000028	T|T	0.61451|0.61451	0.2348|0.2348	M|M	0.69823|0.69823	2.125|2.125	0.41943|0.41943	D|D	0.99062|0.99062	.|B;B;B	.|0.16396	.|0.009;0.017;0.009	.|B;B;B	.|0.15484	.|0.013;0.013;0.013	T|T	0.61792|0.61792	-0.6990|-0.6990	5|10	.|0.56958	.|D	.|0.05	-22.3214|-22.3214	12.8945|12.8945	0.58091|0.58091	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	.|74;74;74	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	T|H	73|74	.|ENSP00000229335:R74H;ENSP00000445691:R74H	.|ENSP00000229335:R74H	A|R	-|-	1|2	0|0	AICDA|AICDA	8649284|8649284	0.997000|0.997000	0.39634|0.39634	0.858000|0.858000	0.33744|0.33744	0.806000|0.806000	0.45545|0.45545	4.017000|4.017000	0.57167|0.57167	1.295000|1.295000	0.44724|0.44724	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.602	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		73	188	0	0	0	1	0	73	188				
CEP83	51134	broad.mit.edu	37	12	94772668	94772668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:94772668A>T	ENST00000397809.5	-	7	1249	c.700T>A	c.(700-702)Tta>Ata	p.L234I	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I|CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		226					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCAGCCTTTAATTCCGCTACT	0.438																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(700-702)Tta>Ata		coiled-coil domain containing 41							149.0	142.0	144.0					12																	94772668		1841	4105	5946	SO:0001583	missense	51134							g.chr12:94772668A>T																												ENST00000397809.5:c.700T>A	12.37:g.94772668A>T	ENSP00000380911:p.Leu234Ile					CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000549352.1_5'UTR	p.L234I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			7	1249	-			226					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.700T>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894832	0.33442	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.69	3.32	0.38043	.	.	.	.	.	T	0.21022	0.0506	M	0.63843	1.955	0.31115	N	0.709521	P;P;P	0.35628	0.513;0.513;0.513	B;B;B	0.34873	0.103;0.191;0.103	T	0.26710	-1.0095	9	0.32370	T	0.25	0.0297	0.9418	0.01357	0.4746:0.154:0.2235:0.1478	.	234;201;226	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	I	234;234;201;234	ENSP00000344655:L234I;ENSP00000380911:L234I;ENSP00000380909:L201I;ENSP00000448913:L234I	ENSP00000344655:L234I	L	-	1	2	CCDC41	93296799	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.721000	0.47260	0.429000	0.26202	0.477000	0.44152	TTA		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			104	176	0	0	0	1	0	104	176				
ENO3	2027	broad.mit.edu	37	17	4858898	4858898	+	Splice_Site	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:4858898T>C	ENST00000323997.6	+	8	996	c.864T>C	c.(862-864)ccT>ccC	p.P288P	ENO3_ENST00000518175.1_Splice_Site_p.P288P|ENO3_ENST00000519584.1_Splice_Site_p.P245P	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	288					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAACTATCCTGGTGAGGCGT	0.522																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.e8+1		enolase 3 (beta, muscle)							121.0	119.0	120.0					17																	4858898		2203	4300	6503	SO:0001630	splice_region_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858898T>C	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.865+1T>C	17.37:g.4858898T>C						ENO3_ENST00000519584.1_Splice_Site_p.P245_splice|ENO3_ENST00000518175.1_Splice_Site_p.P288_splice	p.P288_splice	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			8	996	+			288					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Splice_Site	SNP	ENST00000323997.6	37	c.865_splice	CCDS11062.1																																																																																				0.522	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		Silent	9	953	0	0	0	1	0	9	953				
PARP4	143	broad.mit.edu	37	13	25058816	25058816	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:25058816C>T	ENST00000381989.3	-	12	1528	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	475	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAATAAATCCCACTTCCAAGG	0.428																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1423-1425)Ggg>Agg		poly (ADP-ribose) polymerase family, member 4							195.0	179.0	184.0					13																	25058816		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25058816C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1423G>A	13.37:g.25058816C>T	ENSP00000371419:p.Gly475Arg						p.G475R	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	12	1528	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	475			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1423G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293030	0.80914	.	.	ENSG00000102699	ENST00000381989	T	0.47177	0.85	4.35	4.35	0.52113	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	H	0.95780	3.72	0.49582	D	0.999801	D	0.89917	1.0	D	0.97110	1.0	D	0.84556	0.0647	10	0.87932	D	0	-15.0445	14.4154	0.67145	0.0:1.0:0.0:0.0	.	475	Q9UKK3	PARP4_HUMAN	R	475	ENSP00000371419:G475R	ENSP00000371419:G475R	G	-	1	0	PARP4	23956816	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.795000	0.69074	2.229000	0.72834	0.650000	0.86243	GGG		0.428	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		13	193	0	0	0	1	0	13	193				
SYNGAP1	8831	broad.mit.edu	37	6	33411389	33411389	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:33411389G>A	ENST00000418600.2	+	15	3161	c.3060G>A	c.(3058-3060)cgG>cgA	p.R1020R	SYNGAP1_ENST00000293748.5_Silent_p.R1020R|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.R961R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1020					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCACCCGTCGGCAGCTTTCAC	0.627																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(3058-3060)cgG>cgA		synaptic Ras GTPase activating protein 1							154.0	156.0	155.0					6																	33411389		2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411389G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3060G>A	6.37:g.33411389G>A						SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.R1020R|SYNGAP1_ENST00000428982.2_Silent_p.R961R	p.R1020R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	3161	+			1020					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.3060G>A	CCDS34434.2																																																																																				0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		6	528	0	0	0	1	0	6	528				
AREL1	9870	broad.mit.edu	37	14	75142487	75142487	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:75142487T>C	ENST00000356357.4	-	8	1510	c.995A>G	c.(994-996)gAg>gGg	p.E332G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	332					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCATCTTCCTCGTCAACAGC	0.527																																						ENST00000356357.4																			0											c.(994-996)gAg>gGg		apoptosis resistant E3 ubiquitin protein ligase 1							179.0	189.0	186.0					14																	75142487		2082	4229	6311	SO:0001583	missense	9870							g.chr14:75142487T>C	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.995A>G	14.37:g.75142487T>C	ENSP00000348714:p.Glu332Gly					AREL1_ENST00000557401.1_5'UTR	p.E332G	NM_001039479.1	NP_001034568.1					8	1510	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.995A>G	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.39|16.39	3.110905|3.110905	0.56398|0.56398	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202|ENST00000490805	T;T|.	0.51325|.	0.71;0.71|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.165992|.	0.64402|.	D|.	0.000015|.	T|T	0.62270|0.62270	0.2414|0.2414	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.29301|.	0.241;0.008|.	B;B|.	0.26969|.	0.075;0.01|.	T|T	0.59685|0.59685	-0.7408|-0.7408	10|5	0.21540|.	T|.	0.41|.	.|.	14.5566|14.5566	0.68103|0.68103	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	332;332|.	O15033-2;O15033|.	.;K0317_HUMAN|.	G|G	332;171;171|80	ENSP00000348714:E332G;ENSP00000452101:E171G|.	ENSP00000348714:E332G|.	E|R	-|-	2|1	0|2	KIAA0317|KIAA0317	74212240|74212240	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.367000|0.367000	0.29736|0.29736	7.139000|7.139000	0.77314|0.77314	2.180000|2.180000	0.69256|0.69256	0.383000|0.383000	0.25322|0.25322	GAG|AGG		0.527	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		4	603	0	0	0	1	0	4	603				
PTPRE	5791	broad.mit.edu	37	10	129854431	129854431	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:129854431T>A	ENST00000254667.3	+	7	744	c.465T>A	c.(463-465)aaT>aaA	p.N155K	PTPRE_ENST00000419012.2_Missense_Mutation_p.N155K|PTPRE_ENST00000306042.5_Missense_Mutation_p.N97K|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000471218.1_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	155	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AACTGGCAAATAAAGAAGAAA	0.358																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(463-465)aaT>aaA		protein tyrosine phosphatase, receptor type, E							145.0	150.0	148.0					10																	129854431		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129854431T>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.465T>A	10.37:g.129854431T>A	ENSP00000254667:p.Asn155Lys					PTPRE_ENST00000471218.1_3'UTR|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000306042.5_Missense_Mutation_p.N97K|PTPRE_ENST00000419012.2_Missense_Mutation_p.N155K	p.N155K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			7	744	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	155			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.465T>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585646	0.66105	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.10860	2.83;2.83;2.83	4.83	-0.25	0.13007	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.117466	0.56097	D	0.000031	T	0.12944	0.0314	N	0.13371	0.34	0.80722	D	1	D;P;P;P	0.71674	0.998;0.78;0.86;0.78	D;B;B;B	0.72075	0.976;0.129;0.254;0.129	T	0.04347	-1.0958	10	0.31617	T	0.26	.	9.9414	0.41583	0.0:0.3587:0.0:0.6413	.	133;155;97;155	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	K	155;133;155;97	ENSP00000254667:N155K;ENSP00000402337:N155K;ENSP00000303350:N97K	ENSP00000254667:N155K	N	+	3	2	PTPRE	129744421	0.912000	0.30974	0.999000	0.59377	0.976000	0.68499	-0.045000	0.12003	0.043000	0.15746	-0.385000	0.06624	AAT		0.358	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			7	169	0	0	0	1	0	7	169				
LPHN3	23284	broad.mit.edu	37	4	62598838	62598838	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:62598838C>T	ENST00000514591.1	+	7	1090	c.761C>T	c.(760-762)cCt>cTt	p.P254L	LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000512091.2_Missense_Mutation_p.P254L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	254	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATACCTCCCCTTACCGATGG	0.423																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(760-762)cCt>cTt		latrophilin 3							74.0	67.0	69.0					4																	62598838		1916	4121	6037	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598838C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.761C>T	4.37:g.62598838C>T	ENSP00000422533:p.Pro254Leu					LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P254L	p.P254L			Q9HAR2	LPHN3_HUMAN			7	1508	+			254			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.761C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901293	0.72754	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.994	D	0.95455	0.8538	10	0.87932	D	0	.	17.8426	0.88719	0.0:1.0:0.0:0.0	.	254;322;254	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	254;254;322;322;254;254;254;254;254;322;322;322;254;254;254;322;322;254	ENSP00000423388:P254L;ENSP00000422533:P254L;ENSP00000423787:P322L;ENSP00000425033:P322L;ENSP00000424120:P254L;ENSP00000439831:P254L;ENSP00000421476:P322L;ENSP00000424030:P322L;ENSP00000421372:P322L;ENSP00000425201:P254L;ENSP00000423434:P254L;ENSP00000421627:P254L;ENSP00000420931:P322L;ENSP00000425884:P322L;ENSP00000424258:P254L	ENSP00000280009:P254L	P	+	2	0	LPHN3	62281433	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.458000	0.83093	0.557000	0.71058	CCT		0.423	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	74	0	0	0	1	0	5	74				
INTS12	57117	broad.mit.edu	37	4	106604071	106604071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:106604071C>A	ENST00000451321.2	-	7	1687	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	INTS12_ENST00000340139.5_Missense_Mutation_p.G403V|INTS12_ENST00000394735.1_Missense_Mutation_p.G403V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	403	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ATTTCCATTCCCACTTAGTTG	0.463																																						ENST00000451321.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(1207-1209)gGg>gTg		integrator complex subunit 12							194.0	184.0	187.0					4																	106604071		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604071C>A		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1208G>T	4.37:g.106604071C>A	ENSP00000415433:p.Gly403Val					INTS12_ENST00000340139.5_Missense_Mutation_p.G403V|INTS12_ENST00000394735.1_Missense_Mutation_p.G403V	p.G403V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1687	-			403			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.1208G>T	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651381	0.29336	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.54675	0.56;0.56;0.56	5.04	4.19	0.49359	.	0.221448	0.47093	D	0.000254	T	0.39436	0.1078	L	0.27053	0.805	0.80722	D	1	B	0.32338	0.365	B	0.34722	0.188	T	0.31447	-0.9943	10	0.49607	T	0.09	-5.939	9.299	0.37833	0.0:0.7768:0.1466:0.0766	.	403	Q96CB8	INT12_HUMAN	V	403	ENSP00000378221:G403V;ENSP00000340737:G403V;ENSP00000415433:G403V	ENSP00000340737:G403V	G	-	2	0	INTS12	106823520	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	4.478000	0.60230	1.231000	0.43661	-0.302000	0.09304	GGG		0.463	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		4	218	1	0	0.014758	1	0.0151012	4	218				
AMOTL2	51421	broad.mit.edu	37	3	134079050	134079050	+	Missense_Mutation	SNP	C	C	T	rs547887711		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:134079050C>T	ENST00000422605.2	-	7	1947	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R592H|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R594H|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R652H			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	594					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						AGTGGTGTCACGCTGAGCAGC	0.602																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1954-1956)cGt>cAt		angiomotin like 2							101.0	73.0	83.0					3																	134079050		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134079050C>T	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.1781G>A	3.37:g.134079050C>T	ENSP00000409999:p.Arg594His					AMOTL2_ENST00000249883.5_Missense_Mutation_p.R594H|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R592H|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R594H	p.R652H	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			7	2133	-			594					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1955G>A		.	.	.	.	.	.	.	.	.	.	C	26.0	4.697902	0.88830	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.26660	1.74;1.75;1.76;1.72	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.982;0.995	T	0.52426	-0.8577	10	0.59425	D	0.04	-6.5128	18.7898	0.91969	0.0:1.0:0.0:0.0	.	592;594;652	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	H	594;594;652;592	ENSP00000249883:R594H;ENSP00000409999:R594H;ENSP00000424765:R652H;ENSP00000425475:R592H	ENSP00000249883:R594H	R	-	2	0	AMOTL2	135561740	1.000000	0.71417	0.195000	0.23364	0.770000	0.43624	5.799000	0.69101	2.417000	0.82017	0.561000	0.74099	CGT		0.602	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		6	20	0	0	0	1	0	6	20				
KIAA1755	85449	broad.mit.edu	37	20	36870120	36870120	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:36870120T>C	ENST00000279024.4	-	3	684	c.413A>G	c.(412-414)gAg>gGg	p.E138G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	138										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTAGGCTGGCTCTGGAACAGG	0.512																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(412-414)gAg>gGg		KIAA1755							102.0	101.0	102.0					20																	36870120		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36870120T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.413A>G	20.37:g.36870120T>C	ENSP00000279024:p.Glu138Gly						p.E138G	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	684	-		Myeloproliferative disorder(115;0.00874)	138					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.413A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084597	0.36758	.	.	ENSG00000149633	ENST00000279024	T	0.10668	2.85	5.84	-6.7	0.01766	.	0.712686	0.12595	N	0.455241	T	0.12050	0.0293	M	0.71206	2.165	0.09310	N	1	P	0.49635	0.926	P	0.44597	0.454	T	0.00501	-1.1702	10	0.62326	D	0.03	.	8.0035	0.30310	0.4304:0.0:0.2712:0.2984	.	138	Q5JYT7	K1755_HUMAN	G	138	ENSP00000279024:E138G	ENSP00000279024:E138G	E	-	2	0	KIAA1755	36303534	0.333000	0.24731	0.000000	0.03702	0.002000	0.02628	0.653000	0.24902	-1.778000	0.01282	0.533000	0.62120	GAG		0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		6	330	0	0	0	1	0	6	330				
FAM217A	222826	broad.mit.edu	37	6	4070052	4070052	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:4070052C>A	ENST00000274673.3	-	7	808	c.405G>T	c.(403-405)aaG>aaT	p.K135N	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	135																	GACCAACTTGCTTATCAACTG	0.393																																						ENST00000274673.3																			0											c.(403-405)aaG>aaT		family with sequence similarity 217, member A							80.0	74.0	76.0					6																	4070052		2203	4300	6503	SO:0001583	missense	222826							g.chr6:4070052C>A	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.405G>T	6.37:g.4070052C>A	ENSP00000274673:p.Lys135Asn					FAM217A_ENST00000380188.2_5'UTR	p.K135N	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	808	-			135					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.405G>T	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	C	6.999	0.554414	0.13374	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.21031	2.03	5.34	1.55	0.23275	.	0.521808	0.19732	N	0.107340	T	0.05686	0.0149	L	0.32530	0.975	0.09310	N	1	P	0.46512	0.879	B	0.41988	0.372	T	0.18587	-1.0332	10	0.72032	D	0.01	-2.7617	4.2144	0.10528	0.0:0.5573:0.1708:0.2719	.	135	Q8IXS0	CF146_HUMAN	N	135;263	ENSP00000274673:K135N	ENSP00000274673:K135N	K	-	3	2	C6orf146	4015051	0.002000	0.14202	0.006000	0.13384	0.007000	0.05969	0.027000	0.13621	0.464000	0.27142	0.650000	0.86243	AAG		0.393	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		15	117	1	0	3.32936e-07	1	3.59931e-07	15	117				
SLC7A14	57709	broad.mit.edu	37	3	170198185	170198185	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:170198185G>T	ENST00000231706.5	-	7	2201	c.1886C>A	c.(1885-1887)gCc>gAc	p.A629D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	629					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GAGGCAAGGGGCCATGTAGGG	0.557																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1885-1887)gCc>gAc		solute carrier family 7, member 14							126.0	129.0	128.0					3																	170198185		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198185G>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1886C>A	3.37:g.170198185G>T	ENSP00000231706:p.Ala629Asp					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.A629D	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2201	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		629					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1886C>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502918	0.85176	.	.	ENSG00000013293	ENST00000231706	D	0.88509	-2.39	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94818	0.7984	10	0.87932	D	0	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	629	Q8TBB6	S7A14_HUMAN	D	629	ENSP00000231706:A629D	ENSP00000231706:A629D	A	-	2	0	SLC7A14	171680879	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.686000	0.91538	0.655000	0.94253	GCC		0.557	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		25	506	1	0	2.48779e-11	1	2.7162e-11	25	506				
MIS18BP1	55320	broad.mit.edu	37	14	45693666	45693666	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:45693666A>T	ENST00000310806.4	-	11	2582	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	708					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTGTTTTTACTTTTATGAC	0.348																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2122-2124)agT>agA		MIS18 binding protein 1							69.0	70.0	70.0					14																	45693666		2203	4299	6502	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693666A>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2124T>A	14.37:g.45693666A>T	ENSP00000309790:p.Ser708Arg						p.S708R	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2582	-			708					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2124T>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	A	5.678	0.309609	0.10733	.	.	ENSG00000129534	ENST00000310806	T	0.21031	2.03	5.36	0.0493	0.14289	.	0.729507	0.14408	N	0.321445	T	0.16557	0.0398	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.23190	-1.0195	10	0.66056	D	0.02	-0.9237	4.399	0.11377	0.4861:0.3306:0.1833:0.0	.	708	Q6P0N0	M18BP_HUMAN	R	708	ENSP00000309790:S708R	ENSP00000309790:S708R	S	-	3	2	MIS18BP1	44763416	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.008000	0.12788	-0.148000	0.11234	0.533000	0.62120	AGT		0.348	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			4	59	0	0	0	1	0	4	59				
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:198265658T>A	ENST00000335508.6	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2497-2499)ttA>ttT		splicing factor 3b, subunit 1, 155kDa							53.0	53.0	53.0					2																	198265658		2201	4299	6500	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265658T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2499A>T	2.37:g.198265658T>A	ENSP00000335321:p.Leu833Phe						p.L833F	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2590	-			833					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2499A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959700	0.74016	.	.	ENSG00000115524	ENST00000335508	T	0.66280	-0.2	5.77	2.15	0.27550	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.91038	3.17	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.77262	-0.2653	10	0.87932	D	0	.	6.8117	0.23809	0.0:0.447:0.0:0.553	.	833	O75533	SF3B1_HUMAN	F	833	ENSP00000335321:L833F	ENSP00000335321:L833F	L	-	3	2	SF3B1	197973903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.868000	0.56055	0.540000	0.28808	0.533000	0.62120	TTA		0.328	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			4	45	0	0	0	1	0	4	45				
PLCZ1	89869	broad.mit.edu	37	12	18847883	18847883	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:18847883A>T	ENST00000538330.1	-	8	1149	c.768T>A	c.(766-768)agT>agA	p.S256R	PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R|PLCZ1_ENST00000542762.1_5'Flank|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S474R|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTTATGTTACTTGGGTTAA	0.289																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1420-1422)agT>agA		phospholipase C, zeta 1							73.0	75.0	74.0					12																	18847883		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18847883A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.768T>A	12.37:g.18847883A>T	ENSP00000445880:p.Ser256Arg					PLCZ1_ENST00000538330.1_Missense_Mutation_p.S256R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R	p.S474R			Q86YW0	PLCZ1_HUMAN			12	1685	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		474			C2.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1422T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.435|6.435	0.448477|0.448477	0.12223|0.12223	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421|ENST00000536023	T;T;T;T;T;T;T|.	0.62788|.	-0.0;2.13;2.13;-0.0;1.61;-0.0;-0.0|.	5.09|5.09	2.56|2.56	0.30785|0.30785	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);|.	0.787160|.	0.11950|.	N|.	0.513763|.	T|.	0.10423|.	0.0255|.	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.001;0.013|.	B;B|.	0.09377|.	0.002;0.004|.	T|.	0.21177|.	-1.0253|.	10|.	0.13853|.	T|.	0.58|.	.|.	0.8061|0.8061	0.01084|0.01084	0.4924:0.1667:0.1806:0.1603|0.4924:0.1667:0.1806:0.1603	.|.	474;256|.	Q86YW0;Q8N7S5|.	PLCZ1_HUMAN;.|.	R|K	256;474;472;279;337;281;209|44	ENSP00000445880:S256R;ENSP00000266505:S474R;ENSP00000402358:S472R;ENSP00000400504:S279R;ENSP00000443349:S337R;ENSP00000445026:S281R;ENSP00000445889:S209R|.	ENSP00000266505:S474R|.	S|X	-|-	3|1	2|0	PLCZ1|PLCZ1	18739150|18739150	0.000000|0.000000	0.05858|0.05858	0.042000|0.042000	0.18584|0.18584	0.063000|0.063000	0.16089|0.16089	0.609000|0.609000	0.24238|0.24238	0.778000|0.778000	0.33520|0.33520	0.260000|0.260000	0.18958|0.18958	AGT|TAA		0.289	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		4	126	0	0	0	1	0	4	126				
PITRM1	10531	broad.mit.edu	37	10	3181131	3181131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:3181131G>T	ENST00000224949.4	-	25	2916	c.2882C>A	c.(2881-2883)tCa>tAa	p.S961*	PITRM1_ENST00000451104.2_Nonsense_Mutation_p.S863*|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Nonsense_Mutation_p.S962*|PITRM1_ENST00000380994.1_Nonsense_Mutation_p.S519*|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	961					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCTACGGTTGAGAAGACAGA	0.463																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2884-2886)tCa>tAa		pitrilysin metallopeptidase 1							187.0	187.0	187.0					10																	3181131		1983	4166	6149	SO:0001587	stop_gained	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3181131G>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2882C>A	10.37:g.3181131G>T	ENSP00000224949:p.Ser961*					PITRM1_ENST00000451104.2_Nonsense_Mutation_p.S863*|PITRM1_ENST00000380994.1_Nonsense_Mutation_p.S519*|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000224949.4_Nonsense_Mutation_p.S961*	p.S962*	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			25	2923	-			863					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Nonsense_Mutation	SNP	ENST00000224949.4	37	c.2885C>A	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	40	7.967438	0.98585	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.	.	.	5.54	5.54	0.83059	.	0.152297	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-17.3928	19.4783	0.94998	0.0:0.0:1.0:0.0	.	.	.	.	X	961;954;962;519;863;142	.	ENSP00000224949:S961X	S	-	2	0	PITRM1	3171131	1.000000	0.71417	0.101000	0.21167	0.004000	0.04260	8.749000	0.91619	2.598000	0.87819	0.462000	0.41574	TCA		0.463	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			35	412	1	0	4.65686e-17	1	5.18739e-17	35	412				
STRBP	55342	broad.mit.edu	37	9	125936121	125936121	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:125936121C>A	ENST00000348403.5	-	5	654	c.225G>T	c.(223-225)aaG>aaT	p.K75N	STRBP_ENST00000447404.2_Splice_Site_p.K75N|STRBP_ENST00000360998.3_Splice_Site_p.K61N	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	75	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACCTTGATCCCTAAAAATAA	0.388																																						ENST00000447404.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.e4-1		spermatid perinuclear RNA binding protein							142.0	133.0	136.0					9																	125936121		2203	4300	6503	SO:0001630	splice_region_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125936121C>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.225-1G>T	9.37:g.125936121C>A						STRBP_ENST00000360998.3_Splice_Site_p.K61_splice|STRBP_ENST00000348403.5_Splice_Site_p.K75_splice	p.K75_splice			Q96SI9	STRBP_HUMAN			4	529	-			75					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Splice_Site	SNP	ENST00000348403.5	37	c.224_splice	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482569	0.84747	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.19938	2.38;2.38;2.11	5.16	5.16	0.70880	.	0.278803	0.39615	N	0.001305	T	0.16854	0.0405	L	0.33485	1.01	0.80722	D	1	P	0.36789	0.57	B	0.25987	0.065	T	0.03212	-1.1060	10	0.41790	T	0.15	.	19.0076	0.92857	0.0:1.0:0.0:0.0	.	75	Q96SI9	STRBP_HUMAN	N	75;75;61	ENSP00000415968:K75N;ENSP00000321347:K75N;ENSP00000354271:K61N	ENSP00000321347:K75N	K	-	3	2	STRBP	124975942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.792000	0.47837	2.571000	0.86741	0.591000	0.81541	AAG		0.388	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		Missense_Mutation	63	52	1	0	2.84776e-26	1	3.22942e-26	63	52				
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248112339C>G	ENST00000357191.3	+	1	180	c.180C>G	c.(178-180)ttC>ttG	p.F60L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(178-180)ttC>ttG		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							377.0	330.0	346.0					1																	248112339		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112339C>G	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.180C>G	1.37:g.248112339C>G	ENSP00000349719:p.Phe60Leu					OR2L13_ENST00000366478.2_Intron	p.F60L	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	180	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		60					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.180C>G	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800048	0.31869	.	.	ENSG00000196936	ENST00000357191	T	0.00768	5.72	1.48	-0.801	0.10893	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01353	0.0044	M	0.78344	2.41	0.09310	N	1	B	0.28667	0.219	B	0.30782	0.12	T	0.32851	-0.9891	9	0.52906	T	0.07	.	6.896	0.24257	0.0:0.5792:0.0:0.4208	.	60	Q8NGY9	OR2L8_HUMAN	L	60	ENSP00000349719:F60L	ENSP00000349719:F60L	F	+	3	2	OR2L8	246178962	0.000000	0.05858	0.145000	0.22337	0.779000	0.44077	-0.903000	0.04084	-0.037000	0.13646	0.298000	0.19748	TTC		0.413	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			782	1210	0	0	0	1	0	782	1210				
WDFY3	23001	broad.mit.edu	37	4	85731357	85731357	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:85731357C>G	ENST00000295888.4	-	14	2435	c.2028G>C	c.(2026-2028)gtG>gtC	p.V676V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Silent_p.V676V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	676					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGGTTCACTTTCTCCC	0.438																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2026-2028)gtG>gtC		WD repeat and FYVE domain containing 3							84.0	82.0	83.0					4																	85731357		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731357C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2028G>C	4.37:g.85731357C>G						WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.V676V	p.V676V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2435	-		Hepatocellular(203;0.114)	676					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.2028G>C	CCDS3609.1																																																																																				0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		47	101	0	0	0	1	0	47	101				
SDCBP	6386	broad.mit.edu	37	8	59490720	59490720	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:59490720G>T	ENST00000260130.4	+	6	681	c.531G>T	c.(529-531)gtG>gtT	p.V177V	SDCBP_ENST00000447267.2_Silent_p.V123V|SDCBP_ENST00000447182.2_Silent_p.V176V|SDCBP_ENST00000424270.2_Silent_p.V171V|SDCBP_ENST00000422546.2_Silent_p.V176V|SDCBP_ENST00000520168.1_Silent_p.V118V|SDCBP_ENST00000523483.1_Silent_p.V197V|SDCBP_ENST00000413219.2_Silent_p.V177V	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	177	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.V177V(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGCACAAGGTGCTCAAACAGG	0.418																																						ENST00000523483.1																			1	Substitution - coding silent(1)	p.V177V(1)	lung(1)	breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(589-591)gtG>gtT		syndecan binding protein (syntenin)							100.0	88.0	92.0					8																	59490720		2203	4300	6503	SO:0001819	synonymous_variant	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59490720G>T	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.531G>T	8.37:g.59490720G>T						SDCBP_ENST00000260130.4_Silent_p.V177V|SDCBP_ENST00000447182.2_Silent_p.V176V|SDCBP_ENST00000447267.2_Silent_p.V123V|SDCBP_ENST00000422546.2_Silent_p.V176V|SDCBP_ENST00000424270.2_Silent_p.V171V|SDCBP_ENST00000413219.2_Silent_p.V177V|SDCBP_ENST00000520168.1_Silent_p.V118V	p.V197V			O00560	SDCB1_HUMAN			7	2105	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	177					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	ENST00000260130.4	37	c.591G>T	CCDS6172.1																																																																																				0.418	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		5	103	1	0	4.68919e-08	1	5.08188e-08	5	103				
ZFX	7543	broad.mit.edu	37	X	24225441	24225441	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:24225441A>T	ENST00000379177.1	+	7	1073		c.e7-1		ZFX_ENST00000338565.3_Intron|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000379188.3_Splice_Site	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked						death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTTCCTTTTTAGTGGATGATG	0.338																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.e7-1		zinc finger protein, X-linked							94.0	88.0	90.0					X																	24225441		2203	4300	6503	SO:0001630	splice_region_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225441A>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.647-1A>T	X.37:g.24225441A>T						ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000338565.3_Intron|ZFX_ENST00000379188.3_Splice_Site		NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			7	1073	+								B9EG97|O43668|Q8WYJ8	Splice_Site	SNP	ENST00000379177.1	37		CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267729	0.59540	.	.	ENSG00000005889	ENST00000379188;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000545937	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0178	0.64533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFX	24135362	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	8.910000	0.92685	1.755000	0.51935	0.481000	0.45027	.		0.338	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	Intron	5	183	0	0	0	1	0	5	183				
AHNAK	79026	broad.mit.edu	37	11	62299952	62299952	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:62299952G>T	ENST00000378024.4	-	5	2211	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	646					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)				ATGAACATCTGGACCTTCCCC	0.517																																						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.(1936-1938)cCa>cAa		AHNAK nucleoprotein							128.0	124.0	125.0					11																	62299952		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299952G>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.1937C>A	11.37:g.62299952G>T	ENSP00000367263:p.Pro646Gln					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P646Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2211	-		Melanoma(852;0.155)	646					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1937C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909274	0.17833	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	5.15	2.22	0.28083	.	.	.	.	.	T	0.28732	0.0712	H	0.96970	3.915	0.09310	N	1	P	0.48911	0.917	P	0.56088	0.791	T	0.13575	-1.0504	9	0.44086	T	0.13	2.3992	8.9735	0.35921	0.2966:0.0:0.7034:0.0	.	646	Q09666	AHNK_HUMAN	Q	646	ENSP00000367263:P646Q	ENSP00000367263:P646Q	P	-	2	0	AHNAK	62056528	0.470000	0.25854	0.001000	0.08648	0.178000	0.23041	1.886000	0.39688	0.192000	0.20272	-0.698000	0.03680	CCA		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	184	1	0	0.00024832	1	0.000261389	4	184				
OR2T27	403239	broad.mit.edu	37	1	248813490	248813490	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248813490C>T	ENST00000344889.3	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTCCCCTCTGCCTCGC	0.502																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(694-696)gaG>gaA		olfactory receptor, family 2, subfamily T, member 27							45.0	29.0	34.0					1																	248813490		2182	4248	6430	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813490C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.696G>A	1.37:g.248813490C>T							p.E232E	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	695	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	232						Silent	SNP	ENST00000344889.3	37	c.696G>A	CCDS31124.1																																																																																				0.502	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		15	51	0	0	0	1	0	15	51				
OR5T1	390155	broad.mit.edu	37	11	56043911	56043911	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:56043911C>A	ENST00000313033.2	+	1	883	c.797C>A	c.(796-798)aCa>aAa	p.T266K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TATCATGGGACAATCCTCTTC	0.428																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(796-798)aCa>aAa		olfactory receptor, family 5, subfamily T, member 1							235.0	203.0	214.0					11																	56043911		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043911C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.797C>A	11.37:g.56043911C>A	ENSP00000323612:p.Thr266Lys						p.T266K	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	883	+	Esophageal squamous(21;0.00448)		266					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.797C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017641	0.54576	.	.	ENSG00000181698	ENST00000313033	T	0.00287	8.29	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.01092	0.0036	H	0.97131	3.945	0.09310	N	1	D	0.62365	0.991	D	0.74674	0.984	T	0.10245	-1.0638	10	0.87932	D	0	.	14.145	0.65344	0.0:1.0:0.0:0.0	.	266	Q8NG75	OR5T1_HUMAN	K	266	ENSP00000323612:T266K	ENSP00000323612:T266K	T	+	2	0	OR5T1	55800487	0.000000	0.05858	0.010000	0.14722	0.976000	0.68499	1.265000	0.33027	1.953000	0.56701	0.465000	0.42564	ACA		0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		9	665	1	0	4.68919e-08	1	5.08188e-08	9	665				
ANGPTL1	9068	broad.mit.edu	37	1	178834359	178834359	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:178834359G>T	ENST00000234816.2	-	3	1000	c.553C>A	c.(553-555)Ctt>Att	p.L185I	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L185I|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	185					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTATTGACAAGATCAGTCAAG	0.433																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(553-555)Ctt>Att		angiopoietin-like 1							110.0	95.0	100.0					1																	178834359		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834359G>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.553C>A	1.37:g.178834359G>T	ENSP00000234816:p.Leu185Ile					RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L185I|RALGPS2_ENST00000367635.3_Intron	p.L185I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	1000	-			185					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.553C>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575863	0.45902	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.57752	0.38;0.38	5.32	5.32	0.75619	.	0.195479	0.46758	D	0.000273	T	0.43787	0.1263	L	0.38175	1.15	0.34279	D	0.681979	B	0.19706	0.038	B	0.15484	0.013	T	0.52094	-0.8621	10	0.38643	T	0.18	.	14.5624	0.68151	0.0:0.1463:0.8537:0.0	.	185	O95841	ANGL1_HUMAN	I	185;185;149	ENSP00000234816:L185I;ENSP00000356601:L185I	ENSP00000234816:L185I	L	-	1	0	ANGPTL1	177100982	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	4.017000	0.57167	2.639000	0.89480	0.650000	0.86243	CTT		0.433	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		41	312	1	0	6.19805e-25	1	7.01065e-25	41	312				
PAK2	5062	broad.mit.edu	37	3	196541320	196541320	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:196541320A>T	ENST00000327134.3	+	11	1257		c.e11-1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTGTATTTTTAGTTACCTGGT	0.363																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.e11-1		p21 protein (Cdc42/Rac)-activated kinase 2							154.0	157.0	156.0					3																	196541320		2203	4300	6503	SO:0001630	splice_region_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196541320A>T	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.936-1A>T	3.37:g.196541320A>T								NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	11	1257	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)							Q13154|Q6ISC3	Splice_Site	SNP	ENST00000327134.3	37		CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423714	0.83559	.	.	ENSG00000180370	ENST00000327134;ENST00000426668	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2355	0.82371	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK2	198025717	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	8.932000	0.92897	2.238000	0.73509	0.533000	0.62120	.		0.363	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	Intron	8	325	0	0	0	1	0	8	325				
FLG2	388698	broad.mit.edu	37	1	152324072	152324072	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152324072A>T	ENST00000388718.5	-	3	6262	c.6190T>A	c.(6190-6192)Tca>Aca	p.S2064T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2064					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGAACTGAGGATCCTGAC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6190-6192)Tca>Aca		filaggrin family member 2							539.0	478.0	499.0					1																	152324072		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324072A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6190T>A	1.37:g.152324072A>T	ENSP00000373370:p.Ser2064Thr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S2064T	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6262	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2064					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6190T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	0.090	-1.169423	0.01660	.	.	ENSG00000143520	ENST00000388718	T	0.08102	3.13	4.69	-9.38	0.00623	.	.	.	.	.	T	0.00580	0.0019	N	0.01729	-0.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47799	-0.9089	9	0.15499	T	0.54	.	6.0604	0.19835	0.5417:0.2205:0.0:0.2378	.	2064	Q5D862	FILA2_HUMAN	T	2064	ENSP00000373370:S2064T	ENSP00000373370:S2064T	S	-	1	0	FLG2	150590696	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.508000	0.00960	-2.286000	0.00670	-1.594000	0.00841	TCA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	2498	0	0	0	1	0	10	2498				
MYH15	22989	broad.mit.edu	37	3	108147577	108147577	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:108147577A>T	ENST00000273353.3	-	28	3580	c.3524T>A	c.(3523-3525)aTa>aAa	p.I1175K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1175						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCTTAGTTATTTCCAGCTG	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3523-3525)aTa>aAa		myosin, heavy chain 15							156.0	150.0	152.0					3																	108147577		1943	4146	6089	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147577A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3524T>A	3.37:g.108147577A>T	ENSP00000273353:p.Ile1175Lys						p.I1175K	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			28	3580	-			1175						Missense_Mutation	SNP	ENST00000273353.3	37	c.3524T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315702	0.81469	.	.	ENSG00000144821	ENST00000273353	T	0.78364	-1.17	5.58	3.17	0.36434	Myosin tail (1);	.	.	.	.	T	0.78317	0.4264	L	0.54323	1.7	0.52501	D	0.999951	P	0.41624	0.757	P	0.50708	0.648	T	0.77776	-0.2461	9	0.87932	D	0	.	7.431	0.27128	0.8018:0.0:0.0694:0.1287	.	1175	Q9Y2K3	MYH15_HUMAN	K	1175	ENSP00000273353:I1175K	ENSP00000273353:I1175K	I	-	2	0	MYH15	109630267	1.000000	0.71417	0.007000	0.13788	0.993000	0.82548	5.181000	0.65054	1.021000	0.39600	0.528000	0.53228	ATA		0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		5	251	0	0	0	1	0	5	251				
RWDD4	201965	broad.mit.edu	37	4	184570668	184570668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:184570668A>T	ENST00000326397.5	-	5	689	c.417T>A	c.(415-417)agT>agA	p.S139R	RWDD4_ENST00000510968.1_Missense_Mutation_p.S44R|RWDD4_ENST00000512740.1_Missense_Mutation_p.S76R|RWDD4_ENST00000327570.9_Missense_Mutation_p.S139R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	139										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTTTTTTCTTACTTGATGGGG	0.328																																						ENST00000326397.5																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(415-417)agT>agA		RWD domain containing 4							173.0	171.0	171.0					4																	184570668		2202	4300	6502	SO:0001583	missense	201965							g.chr4:184570668A>T	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.417T>A	4.37:g.184570668A>T	ENSP00000388920:p.Ser139Arg					RWDD4_ENST00000512740.1_Missense_Mutation_p.S76R|RWDD4_ENST00000327570.9_Missense_Mutation_p.S139R|RWDD4_ENST00000510968.1_Missense_Mutation_p.S44R	p.S139R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			5	689	-			139					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	c.417T>A	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678796	0.47886	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.47869	0.83;0.83;0.87;0.88	5.21	4.03	0.46877	.	0.224657	0.52532	D	0.000073	T	0.41858	0.1177	L	0.53729	1.69	0.53005	D	0.999962	B	0.24258	0.1	B	0.24006	0.05	T	0.26538	-1.0100	10	0.39692	T	0.17	-15.8385	10.2096	0.43132	0.9217:0.0:0.0783:0.0	.	139	Q6NW29	RWDD4_HUMAN	R	139;139;44;76	ENSP00000388920:S139R;ENSP00000332177:S139R;ENSP00000426329:S44R;ENSP00000423598:S76R	ENSP00000388920:S139R	S	-	3	2	RWDD4	184807662	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.233000	0.43027	0.940000	0.37473	0.455000	0.32223	AGT		0.328	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		5	204	0	0	0	1	0	5	204				
SLC26A4	5172	broad.mit.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438									Pendred syndrome																													ENST00000265715.3																			1	Substitution - coding silent(1)	p.S347S(1)	kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1039-1041)tcG>tcA		solute carrier family 26 (anion exchanger), member 4		G		0,4406		0,0,2203	165.0	153.0	157.0		1041	-11.2	0.1	7	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A4	NM_000441.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		347/781	107329537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107329537G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1041G>A	7.37:g.107329537G>A							p.S347S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			9	1265	+			347					B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1041G>A	CCDS5746.1																																																																																				0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		56	319	0	0	0	1	0	56	319				
OR10S1	219873	broad.mit.edu	37	11	123848361	123848361	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:123848361G>T	ENST00000531945.1	-	1	127	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTCTCCGTTGTCATGGTCAT	0.478																																						ENST00000531945.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(37-39)aCa>aAa		olfactory receptor, family 10, subfamily S, member 1							89.0	89.0	89.0					11																	123848361		2201	4299	6500	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848361G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.38C>A	11.37:g.123848361G>T	ENSP00000431914:p.Thr13Lys						p.T13K	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	127	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	13					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.38C>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.875094	0.02550	.	.	ENSG00000196248	ENST00000531945	T	0.00245	8.45	4.75	-0.793	0.10922	.	1.403140	0.05487	N	0.555868	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02464	-1.1155	10	0.15066	T	0.55	0.0165	8.2595	0.31777	0.0:0.146:0.5028:0.3511	.	13	Q8NGN2	O10S1_HUMAN	K	13	ENSP00000431914:T13K	ENSP00000431914:T13K	T	-	2	0	OR10S1	123353571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	-0.290000	0.09025	-0.919000	0.02742	ACA		0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		28	1022	1	0	3.8784e-16	1	4.30934e-16	28	1022				
CTSE	1510	broad.mit.edu	37	1	206325277	206325277	+	Missense_Mutation	SNP	A	A	T	rs201675695	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:206325277A>T	ENST00000358184.2	+	5	620	c.502A>T	c.(502-504)Agt>Tgt	p.S168C	CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.S173C|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTTTGGAGAAAGTGTCACAGA	0.547																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(517-519)Agt>Tgt		cathepsin E							163.0	147.0	153.0					1																	206325277		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206325277A>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.502A>T	1.37:g.206325277A>T	ENSP00000350911:p.Ser168Cys					CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000358184.2_Missense_Mutation_p.S168C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C	p.S173C			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		5	635	+			173					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.517A>T	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340507	0.60963	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.24	4.12	0.48240	.	0.127697	0.53938	D	0.000047	T	0.76842	0.4044	M	0.87328	2.875	0.45415	D	0.99839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79050	-0.1962	10	0.62326	D	0.03	.	10.7631	0.46277	0.925:0.0:0.075:0.0	.	93;168;168	B4DNU8;P14091-2;P14091-1	.;.;.	C	168;173;168;93	ENSP00000350911:S168C;ENSP00000354337:S173C;ENSP00000353350:S168C;ENSP00000394607:S93C	ENSP00000350911:S168C	S	+	1	0	CTSE	204491900	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.478000	0.60230	1.017000	0.39495	-0.256000	0.11100	AGT		0.547	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		54	391	0	0	0	1	0	54	391				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		TTTATCTTTTACTATGTGGTG	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.(1456-1458)tAc>tTc		polycystic kidney disease 2 (autosomal dominant)							209.0	193.0	198.0					4																	88967931		2203	4300	6503	SO:0001583	missense	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.chr4:88967931A>T	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	ENST00000237596.2:c.1457A>T	4.37:g.88967931A>T	ENSP00000237596:p.Tyr486Phe					PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	6	1523	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	486					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1457A>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486666	0.84854	.	.	ENSG00000118762	ENST00000237596	D	0.96992	-4.2	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.59967	1.855	0.80722	D	1	B	0.25486	0.127	B	0.40134	0.32	D	0.95130	0.8254	10	0.62326	D	0.03	-20.057	15.8159	0.78599	1.0:0.0:0.0:0.0	.	486	Q13563	PKD2_HUMAN	F	486	ENSP00000237596:Y486F	ENSP00000237596:Y486F	Y	+	2	0	PKD2	89186955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.296000	0.96104	2.133000	0.65898	0.482000	0.46254	TAC		0.383	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		6	402	0	0	0	1	0	6	402				
TARS2	80222	broad.mit.edu	37	1	150476838	150476838	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150476838G>A	ENST00000369064.3	+	14	1679	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	TARS2_ENST00000369054.2_Missense_Mutation_p.G419S|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	549					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGATGCCCTGGGCCGGCCACA	0.502																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1645-1647)Ggc>Agc		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						80.0	63.0	69.0					1																	150476838		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150476838G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1645G>A	1.37:g.150476838G>A	ENSP00000358060:p.Gly549Ser					TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S|TARS2_ENST00000369054.2_Missense_Mutation_p.G419S	p.G549S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	1679	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		549					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1645G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205524	0.79127	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.05	4.11	0.48088	Aminoacyl-tRNA synthetase, class II (1);	0.060536	0.64402	D	0.000004	T	0.80954	0.4723	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85659	0.1287	9	0.72032	D	0.01	-6.6972	14.2191	0.65812	0.0:0.1505:0.8495:0.0	.	419;274;549	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	S	419;549;274;274	.	ENSP00000358047:G274S	G	+	1	0	TARS2	148743462	1.000000	0.71417	0.975000	0.42487	0.410000	0.31052	5.282000	0.65615	1.324000	0.45282	0.655000	0.94253	GGC		0.502	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		34	243	0	0	0	1	0	34	243				
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4-1		zinc finger protein 253							25.0	25.0	25.0					19																	20002281		2092	4245	6337	SO:0001630	splice_region_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002281A>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.227-1A>T	19.37:g.20002281A>T						ZNF253_ENST00000355650.4_Splice_Site		NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	318	+								A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Splice_Site	SNP	ENST00000589717.1	37		CCDS42532.1	.	.	.	.	.	.	.	.	.	.	.	3.790	-0.043857	0.07452	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.185	0.185	0.15096	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6115	0.04892	0.5567:0.0:0.4433:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF253	19863281	0.000000	0.05858	0.254000	0.24359	0.185000	0.23345	-0.081000	0.11321	0.251000	0.21505	0.248000	0.18094	.		0.313	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	Intron	3	26	0	0	0	1	0	3	26				
VWA8	23078	broad.mit.edu	37	13	42259304	42259304	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:42259304A>T	ENST00000379310.3	-	35	4274	c.4206T>A	c.(4204-4206)taT>taA	p.Y1402*		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1402						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCTTTCCTCTATAGAATGATG	0.393																																						ENST00000379310.3																			0											c.(4204-4206)taT>taA		von Willebrand factor A domain containing 8							159.0	140.0	146.0					13																	42259304		1845	4090	5935	SO:0001587	stop_gained	23078							g.chr13:42259304A>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4206T>A	13.37:g.42259304A>T	ENSP00000368612:p.Tyr1402*						p.Y1402*	NM_015058.1	NP_055873.1					35	4274	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	c.4206T>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	39	7.897024	0.98548	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.16	1.21	0.21127	.	0.220946	0.40554	N	0.001062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3088	0.32058	0.7713:0.0:0.2287:0.0	.	.	.	.	X	1306;1402	.	ENSP00000251030:Y1306X	Y	-	3	2	KIAA0564	41157304	0.999000	0.42202	0.330000	0.25442	0.007000	0.05969	1.498000	0.35660	0.041000	0.15688	-0.263000	0.10527	TAT		0.393	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		4	198	0	0	0	1	0	4	198				
SMC5	23137	broad.mit.edu	37	9	72912910	72912910	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:72912910T>A	ENST00000361138.5	+	9	1140	c.1082T>A	c.(1081-1083)gTa>gAa	p.V361E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	361					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCTTTAATAGTAAAGCAAAAT	0.363																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(1081-1083)gTa>gAa		structural maintenance of chromosomes 5							97.0	101.0	100.0					9																	72912910		2203	4299	6502	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72912910T>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1082T>A	9.37:g.72912910T>A	ENSP00000354957:p.Val361Glu						p.V361E	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			9	1140	+			361					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1082T>A	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.976919	0.53720	.	.	ENSG00000198887	ENST00000361138	T	0.16073	2.37	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.208186	0.43260	D	0.000593	T	0.09423	0.0232	N	0.03324	-0.35	0.42587	D	0.993238	P	0.50369	0.934	P	0.45971	0.499	T	0.15150	-1.0447	10	0.02654	T	1	-17.5096	16.3527	0.83220	0.0:0.0:0.0:1.0	.	361	Q8IY18	SMC5_HUMAN	E	361	ENSP00000354957:V361E	ENSP00000354957:V361E	V	+	2	0	SMC5	72102730	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.489000	0.73641	2.268000	0.75426	0.482000	0.46254	GTA		0.363	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		6	161	0	0	0	1	0	6	161				
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	lincRNA	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:120906203G>A	ENST00000427872.1	-	0	0				RP11-439A17.10_ENST00000426275.1_RNA|HIST2H2BA_ENST00000430394.1_RNA																							CCCGACACCGGCATCTCGTCC	0.612																																						ENST00000430394.1																			0																																																			337875							g.chr1:120906203G>A																													1.37:g.120906203G>A								NR_027337.1						0	176	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.612	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			11	1363	0	0	0	1	0	11	1363				
ZNF789	285989	broad.mit.edu	37	7	99085048	99085048	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:99085048T>C	ENST00000331410.5	+	5	1485	c.1215T>C	c.(1213-1215)tcT>tcC	p.S405S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTGGAAAATCTTTCAAGTGGC	0.403																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(1213-1215)tcT>tcC		zinc finger protein 789							105.0	100.0	102.0					7																	99085048		2203	4300	6503	SO:0001819	synonymous_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99085048T>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1215T>C	7.37:g.99085048T>C						ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.S405S	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	1485	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		405					A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	c.1215T>C	CCDS34693.1																																																																																				0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		4	352	0	0	0	1	0	4	352				
SLCO1B7	338821	broad.mit.edu	37	12	21196392	21196392	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:21196392T>A	ENST00000421593.2	+	6	711	c.711T>A	c.(709-711)aaT>aaA	p.N237K	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.N284K|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N284K	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAAATCCAAATAAACCACAGA	0.343																																						ENST00000381541.3																			0											c.(850-852)aaT>aaA									99.0	99.0	99.0					12																	21196392		2202	4299	6501	SO:0001583	missense	0							g.chr12:21196392T>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.711T>A	12.37:g.21196392T>A	ENSP00000394168:p.Asn237Lys					LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N284K|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.N237K	p.N284K							7	917	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.852T>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.892422	0.00522	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80653	-1.4;-1.4;1.28	3.17	-1.31	0.09230	.	0.695643	0.14266	N	0.330466	T	0.48943	0.1528	N	0.03194	-0.395	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.43015	-0.9417	10	0.06757	T	0.87	.	4.1861	0.10398	0.0:0.1373:0.4551:0.4076	.	237;284	G3V0H7;F5H094	.;.	K	284;284;237	ENSP00000370952:N284K;ENSP00000452013:N284K;ENSP00000394168:N237K	ENSP00000370952:N284K	N	+	3	2	SLCO1B7;RP11-545J16.1	21087659	0.000000	0.05858	0.009000	0.14445	0.047000	0.14425	-0.260000	0.08708	0.004000	0.14682	-0.902000	0.02854	AAT		0.343	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		6	87	0	0	0	1	0	6	87				
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3526-3528)acT>acA		myosin, heavy chain 15							156.0	150.0	152.0					3																	108147573		1946	4152	6098	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147573A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3528T>A	3.37:g.108147573A>T							p.T1176T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			28	3584	-			1176						Silent	SNP	ENST00000273353.3	37	c.3528T>A	CCDS43127.1																																																																																				0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		12	243	0	0	0	1	0	12	243				
EPYC	1833	broad.mit.edu	37	12	91366748	91366748	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:91366748G>C	ENST00000261172.3	-	4	442	c.350C>G	c.(349-351)aCc>aGc	p.T117S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	117	LRRNT.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAAAAGACAGGTTGGAAAGTC	0.343																																						ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(349-351)aCc>aGc		epiphycan							94.0	98.0	97.0					12																	91366748		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91366748G>C	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.350C>G	12.37:g.91366748G>C	ENSP00000261172:p.Thr117Ser						p.T117S	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			4	442	-			117			LRRNT.		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.350C>G	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246295	0.59103	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.02158	4.42;4.42	5.79	5.79	0.91817	Leucine-rich repeat-containing N-terminal (1);	0.091769	0.85682	D	0.000000	T	0.04679	0.0127	L	0.55103	1.725	0.49389	D	0.999784	P	0.42357	0.777	B	0.39562	0.303	T	0.43750	-0.9372	10	0.48119	T	0.1	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	117	Q99645	EPYC_HUMAN	S	117	ENSP00000261172:T117S;ENSP00000448272:T117S	ENSP00000261172:T117S	T	-	2	0	EPYC	89890879	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.584000	0.53936	2.736000	0.93811	0.655000	0.94253	ACC		0.343	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		47	96	0	0	0	1	0	47	96				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln					TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	197	0	0	0	1	0	7	197				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e8-1		solute carrier family 35, member F1																																				SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118635189A>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1003-1A>T	6.37:g.118635189A>T								NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1203	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953854	0.73902	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118741882	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.987000	0.88182	2.186000	0.69663	0.533000	0.62120	.		0.473	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	9	105	0	0	0	1	0	9	105				
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.e2-2		zinc binding alcohol dehydrogenase domain containing 2							47.0	46.0	46.0					18																	72914297		2203	4300	6503	SO:0001630	splice_region_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914297T>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.210-2A>T	18.37:g.72914297T>A						ZADH2_ENST00000537114.2_Splice_Site		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	499	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)						A8KA15|B4DZ91	Splice_Site	SNP	ENST00000322342.3	37		CCDS12008.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533999	0.64972	.	.	ENSG00000180011	ENST00000322342	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0442	0.64695	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZADH2	71043285	1.000000	0.71417	0.975000	0.42487	0.877000	0.50540	7.817000	0.86213	0.893000	0.36288	0.529000	0.55759	.		0.428	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	Intron	8	250	0	0	0	1	0	8	250				
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A						SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	4	144	0	0	0	1	0	4	144				
PHGDH	26227	broad.mit.edu	37	1	120277981	120277981	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:120277981G>A	ENST00000369409.4	+	7	843	c.707G>A	c.(706-708)cGt>cAt	p.R236H	PHGDH_ENST00000369407.3_Missense_Mutation_p.R202H	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	236					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		AACTGTGCCCGTGGAGGGATC	0.617																																						ENST00000369407.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(604-606)cGt>cAt		phosphoglycerate dehydrogenase	NADH(DB00157)						94.0	97.0	96.0					1																	120277981		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120277981G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.707G>A	1.37:g.120277981G>A	ENSP00000358417:p.Arg236His					PHGDH_ENST00000369409.4_Missense_Mutation_p.R236H	p.R202H			O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	6	2112	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	236					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.605G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.845982	0.91277	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	D;D	0.92397	-3.03;-3.03	5.23	4.31	0.51392	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	H	0.97983	4.12	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97855	1.0277	10	0.87932	D	0	-18.4982	12.4416	0.55627	0.0823:0.0:0.9177:0.0	.	108;202;202;109;236	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	H	236;109;68;202	ENSP00000358417:R236H;ENSP00000358415:R202H	ENSP00000358415:R202H	R	+	2	0	PHGDH	120079504	1.000000	0.71417	0.120000	0.21714	0.831000	0.47069	7.473000	0.81007	1.211000	0.43351	0.655000	0.94253	CGT		0.617	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		6	376	0	0	0	1	0	6	376				
C16orf71	146562	broad.mit.edu	37	16	4787820	4787820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4787820A>C	ENST00000299320.5	+	3	627	c.149A>C	c.(148-150)gAg>gCg	p.E50A	C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	50										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGGGAAGAGGAGCTGTTCATC	0.597																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(148-150)gAg>gCg		chromosome 16 open reading frame 71							83.0	81.0	82.0					16																	4787820		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4787820A>C	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.149A>C	16.37:g.4787820A>C	ENSP00000299320:p.Glu50Ala					C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A|RP11-127I20.7_ENST00000588099.1_RNA	p.E50A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN			3	627	+			50					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.149A>C	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844596	0.71488	.	.	ENSG00000166246	ENST00000299320	T	0.13196	2.61	4.51	4.51	0.55191	.	0.000000	0.42420	D	0.000720	T	0.31918	0.0812	L	0.58101	1.795	0.31336	N	0.684262	D	0.89917	1.0	D	0.87578	0.998	T	0.25398	-1.0133	10	0.87932	D	0	-23.9907	12.0245	0.53362	1.0:0.0:0.0:0.0	.	50	Q8IYS4	CP071_HUMAN	A	50	ENSP00000299320:E50A	ENSP00000299320:E50A	E	+	2	0	C16orf71	4727821	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.900000	0.63252	2.050000	0.60909	0.529000	0.55759	GAG		0.597	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		22	90	0	0	0	1	0	22	90				
ADAM19	8728	broad.mit.edu	37	5	156932774	156932774	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:156932774G>A	ENST00000517905.1	-	11	1077	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ADAM19_ENST00000394020.1_Missense_Mutation_p.H347Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.H78Y|ADAM19_ENST00000257527.4_Missense_Mutation_p.H345Y			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	345	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCATCTCGTGGGCCATGGTG	0.602																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1033-1035)Cac>Tac		ADAM metallopeptidase domain 19							55.0	44.0	48.0					5																	156932774		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156932774G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1033C>T	5.37:g.156932774G>A	ENSP00000428654:p.His345Tyr					ADAM19_ENST00000394020.1_Missense_Mutation_p.H347Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.H78Y|ADAM19_ENST00000517905.1_Missense_Mutation_p.H345Y	p.H345Y	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1111	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	345			Peptidase M12B.		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.1033C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.404158	0.96051	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.99532	1.08;-6.1;-6.1;-6.1	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.99859	0.9934	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96605	0.9448	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	345;78	Q9H013-2;E9PD32	.;.	Y	78;345;347;345	ENSP00000414088:H78Y;ENSP00000257527:H345Y;ENSP00000377588:H347Y;ENSP00000428654:H345Y	ENSP00000257527:H345Y	H	-	1	0	ADAM19	156865352	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CAC		0.602	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		10	60	0	0	0	1	0	10	60				
DMD	1756	broad.mit.edu	37	X	31241191	31241191	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:31241191G>T	ENST00000357033.4	-	64	9540	c.9334C>A	c.(9334-9336)Ctc>Atc	p.L3112I	DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000343523.2_Missense_Mutation_p.L652I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000474231.1_Missense_Mutation_p.L652I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3112	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCTTCGGAGTTTCATGGCA	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9334-9336)Ctc>Atc		dystrophin							96.0	91.0	92.0					X																	31241191		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31241191G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9334C>A	X.37:g.31241191G>T	ENSP00000354923:p.Leu3112Ile					DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000474231.1_Missense_Mutation_p.L652I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000343523.2_Missense_Mutation_p.L652I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I	p.L3112I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			64	9540	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3112			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9334C>A	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.036996|3.036996	0.54896|0.54896	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13|.	5.23|5.23	5.23|5.23	0.72850|0.72850	EF-hand domain, type 1 (1);|.	0.629831|.	0.11896|.	U|.	0.519141|.	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999997|0.999997	P;P;D;D;D;D;B;B;B;P;P;B;P;B;B;D|.	0.65815|.	0.786;0.778;0.995;0.986;0.995;0.995;0.022;0.009;0.179;0.902;0.88;0.194;0.897;0.018;0.102;0.965|.	D;P;D;D;D;D;B;B;B;P;P;B;D;B;P;D|.	0.87578|.	0.974;0.887;0.998;0.992;0.998;0.998;0.148;0.083;0.279;0.849;0.688;0.291;0.97;0.128;0.472;0.988|.	T|T	0.56329|0.56329	-0.7997|-0.7997	10|5	0.33940|.	T|.	0.23|.	.|.	16.6745|16.6745	0.85275|0.85275	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;3104;3112;3108;1771;1768;652;652;652;652;652;2989;44;44;44;44|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	I|N	3104;1771;1768;44;808;3108;3112;652;652;3112;2989;652;652;44;652;44;44|840	ENSP00000367997:L44I;ENSP00000350765:L808I;ENSP00000367948:L3108I;ENSP00000354923:L3112I;ENSP00000352894:L652I;ENSP00000340057:L652I;ENSP00000367979:L652I;ENSP00000444119:L652I;ENSP00000367974:L44I;ENSP00000417123:L652I;ENSP00000354464:L44I;ENSP00000367951:L44I|.	ENSP00000340057:L652I|.	L|T	-|-	1|2	0|0	DMD|DMD	31151112|31151112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.284000|5.284000	0.65627|0.65627	2.196000|2.196000	0.70406|0.70406	0.540000|0.540000	0.68198|0.68198	CTC|ACT		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		68	87	1	0	1.3913e-53	1	1.68878e-53	68	87				
TRIM68	55128	broad.mit.edu	37	11	4626621	4626621	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:4626621G>T	ENST00000300747.5	-	2	403	c.114C>A	c.(112-114)agC>agA	p.S38R		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	38					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGAGAGACAGCTGTGGCAGA	0.577																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(112-114)agC>agA		tripartite motif containing 68							76.0	74.0	75.0					11																	4626621		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626621G>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.114C>A	11.37:g.4626621G>T	ENSP00000300747:p.Ser38Arg						p.S38R	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	403	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	38					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.114C>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398899	0.25291	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.08370	3.1;3.1	4.56	3.55	0.40652	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.556195	0.16428	N	0.214840	T	0.07324	0.0185	N	0.20357	0.565	0.33336	D	0.569272	B;P	0.37548	0.321;0.599	B;B	0.40982	0.137;0.345	T	0.22417	-1.0217	10	0.34782	T	0.22	.	12.165	0.54125	0.0:0.1748:0.8252:0.0	.	38;38	E9PR29;Q6AZZ1	.;TRI68_HUMAN	R	38	ENSP00000300747:S38R;ENSP00000436112:S38R	ENSP00000300747:S38R	S	-	3	2	TRIM68	4583197	0.147000	0.22687	0.988000	0.46212	0.491000	0.33493	0.392000	0.20801	2.458000	0.83093	0.549000	0.68633	AGC		0.577	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		4	226	1	0	0.150653	1	0.151888	4	226				
TTC17	55761	broad.mit.edu	37	11	43425546	43425546	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:43425546A>T	ENST00000039989.4	+	11	1346		c.e11-1		TTC17_ENST00000299240.6_Splice_Site|TTC17_ENST00000526774.1_Splice_Site	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17						actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCATTTTCTAGTTTGGTGAG	0.333																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.e11-1		tetratricopeptide repeat domain 17							84.0	80.0	81.0					11																	43425546		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43425546A>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1333-1A>T	11.37:g.43425546A>T						TTC17_ENST00000299240.6_Splice_Site|TTC17_ENST00000526774.1_Splice_Site		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			11	1346	+								G3XAB3|Q8NEC0	Splice_Site	SNP	ENST00000039989.4	37		CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757289	0.69648	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0287	0.80560	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC17	43382122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.321000	0.72881	2.202000	0.70862	0.477000	0.44152	.		0.333	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Intron	4	87	0	0	0	1	0	4	87				
RMI1	80010	broad.mit.edu	37	9	86615864	86615864	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:86615864A>T	ENST00000325875.3	+	3	296		c.e3-1			NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1						DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TTTTGTTTTCAGGTAATAGAT	0.294																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.e3-1		RecQ mediated genome instability 1							33.0	37.0	36.0					9																	86615864		2126	4269	6395	SO:0001630	splice_region_variant	80010				DNA replication	nucleus		g.chr9:86615864A>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.-36-1A>T	9.37:g.86615864A>T								NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	296	+								Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Splice_Site	SNP	ENST00000325875.3	37		CCDS6669.1																																																																																				0.294	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	Intron	3	35	0	0	0	1	0	3	35				
TAS2R31	259290	broad.mit.edu	37	12	11183341	11183341	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:11183341T>A	ENST00000390675.2	-	1	665	c.594A>T	c.(592-594)ttA>ttT	p.L198F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	198					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GAGAACAGATTAACAGCAAAA	0.438																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(592-594)ttA>ttT		taste receptor, type 2, member 31							132.0	136.0	135.0					12																	11183341		2203	4299	6502	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183341T>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.594A>T	12.37:g.11183341T>A	ENSP00000375093:p.Leu198Phe					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.L198F	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	665	-			198					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.594A>T	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.149804	0.37923	.	.	ENSG00000256436	ENST00000390675	T	0.03272	3.99	2.62	-0.166	0.13351	.	.	.	.	.	T	0.18759	0.0450	M	0.93808	3.46	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07966	-1.0745	9	0.87932	D	0	.	2.963	0.05899	0.0:0.1581:0.2571:0.5848	.	198	P59538	T2R31_HUMAN	F	198	ENSP00000375093:L198F	ENSP00000375093:L198F	L	-	3	2	TAS2R31	11074608	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.809000	0.04510	-0.133000	0.11537	0.163000	0.16589	TTA		0.438	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		8	557	0	0	0	1	0	8	557				
ATM	472	broad.mit.edu	37	11	108124598	108124598	+	Silent	SNP	T	T	C	rs587782544		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:108124598T>C	ENST00000452508.2	+	14	2145	c.1956T>C	c.(1954-1956)ttT>ttC	p.F652F	ATM_ENST00000278616.4_Silent_p.F652F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	652					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGAACTATTTCTTCAGACAA	0.348			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1954-1956)ttT>ttC	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							88.0	88.0	88.0					11																	108124598		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108124598T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1956T>C	11.37:g.108124598T>C		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.F652F	p.F652F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	13	2341	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	652					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.1956T>C	CCDS31669.1																																																																																				0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	115	0	0	0	1	0	4	115				
AADACL3	126767	broad.mit.edu	37	1	12785730	12785730	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:12785730G>C	ENST00000359318.5	+	4	1025	c.820G>C	c.(820-822)Gac>Cac	p.D274H	AADACL3_ENST00000332530.3_Missense_Mutation_p.D204H	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	274							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGAAGATGACATAGTGTC	0.507																																						ENST00000332530.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(610-612)Gac>Cac		arylacetamide deacetylase-like 3							105.0	105.0	105.0					1																	12785730		2072	4215	6287	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785730G>C		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.820G>C	1.37:g.12785730G>C	ENSP00000352268:p.Asp274His					AADACL3_ENST00000359318.5_Missense_Mutation_p.D274H	p.D204H	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	3	836	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	274					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.610G>C	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484217	0.44147	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.14144	2.53;2.53	5.56	1.48	0.22813	Alpha/beta hydrolase fold-3 (1);	0.899096	0.09639	N	0.775167	T	0.20333	0.0489	L	0.39898	1.24	0.09310	N	1	D;P	0.53619	0.961;0.942	D;P	0.64687	0.928;0.831	T	0.17561	-1.0365	10	0.34782	T	0.22	-2.7368	1.9439	0.03352	0.2942:0.1242:0.4542:0.1274	.	274;204	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	H	204;274	ENSP00000333352:D204H;ENSP00000352268:D274H	ENSP00000333352:D204H	D	+	1	0	AADACL3	12708317	0.008000	0.16893	0.000000	0.03702	0.080000	0.17528	1.614000	0.36911	0.018000	0.15052	-0.494000	0.04653	GAC		0.507	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		89	309	0	0	0	1	0	89	309				
WDTC1	23038	broad.mit.edu	37	1	27621085	27621085	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:27621085G>C	ENST00000319394.3	+	9	1373	c.838G>C	c.(838-840)Ggc>Cgc	p.G280R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	280					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGCCCCAATGGCACAGAGCT	0.552																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(838-840)Ggc>Cgc		WD and tetratricopeptide repeats 1							97.0	82.0	87.0					1																	27621085		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27621085G>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.838G>C	1.37:g.27621085G>C	ENSP00000317971:p.Gly280Arg					WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	9	1373	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	280					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.838G>C		.	.	.	.	.	.	.	.	.	.	G	28.8	4.948366	0.92593	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.85013	-1.93;-1.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93290	0.6667	10	0.66056	D	0.02	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	280;280	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	R	280	ENSP00000317971:G280R;ENSP00000355317:G280R	ENSP00000317971:G280R	G	+	1	0	WDTC1	27493672	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.476000	0.97823	2.769000	0.95229	0.563000	0.77884	GGC		0.552	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		32	59	0	0	0	1	0	32	59				
LDHAL6B	92483	broad.mit.edu	37	15	59499176	59499176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:59499176A>T	ENST00000307144.4	+	1	135	c.37A>T	c.(37-39)Aga>Tga	p.R13*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	13					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GGCCAGCCAGAGAGTGAGCTC	0.587																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(37-39)Aga>Tga		lactate dehydrogenase A-like 6B	NADH(DB00157)						39.0	37.0	38.0					15																	59499176		2191	4290	6481	SO:0001587	stop_gained	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499176A>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.37A>T	15.37:g.59499176A>T	ENSP00000302393:p.Arg13*					MYO1E_ENST00000288235.4_Intron	p.R13*	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	135	+			13					Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	c.37A>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780536	0.49891	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.49	-1.85	0.07784	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.0825	0.03638	0.3868:0.3445:0.2687:0.0	.	.	.	.	X	13	.	ENSP00000302393:R13X	R	+	1	2	LDHAL6B	57286468	0.095000	0.21747	0.001000	0.08648	0.093000	0.18481	0.391000	0.20784	-0.315000	0.08703	0.254000	0.18369	AGA		0.587	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		7	19	0	0	0	1	0	7	19				
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(151-153)Gct>Act		transient receptor potential cation channel, subfamily C, member 7							96.0	108.0	104.0					5																	135692925		2141	4264	6405	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692925C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.151G>A	5.37:g.135692925C>T	ENSP00000426070:p.Ala51Thr					TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T|TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T	p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	433	-			51					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.151G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		177	228	0	0	0	1	0	177	228				
LPHN1	22859	broad.mit.edu	37	19	14273947	14273947	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:14273947C>T	ENST00000340736.6	-	6	978	c.681G>A	c.(679-681)aaG>aaA	p.K227K	LPHN1_ENST00000361434.3_Silent_p.K222K|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	227	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGTGCGCTCCTTGTTGTAGA	0.607																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(679-681)aaG>aaA		latrophilin 1							144.0	101.0	116.0					19																	14273947		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273947C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.681G>A	19.37:g.14273947C>T						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.K222K|CTB-55O6.12_ENST00000588387.1_RNA	p.K227K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	978	-			227			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.681G>A	CCDS32928.1																																																																																				0.607	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	147	0	0	0	1	0	3	147				
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						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						TTGTTTTTTTAGTTGCAACTA	0.333																																						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.e19-1		RAN binding protein 2							91.0	100.0	97.0					2																	109378555		931	2027	2958	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378555A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1A>T	2.37:g.109378555A>T								NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			19	2728	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294558	0.81025	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3858	0.74699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108744987	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.847000	0.75404	2.088000	0.63022	0.455000	0.32223	.		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	5	75	0	0	0	1	0	5	75				
SUPT6H	6830	broad.mit.edu	37	17	27008349	27008349	+	Silent	SNP	C	C	T	rs62066801		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:27008349C>T	ENST00000314616.6	+	12	1708	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SUPT6H_ENST00000347486.4_Silent_p.I475I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	475	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				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)					GCCGAGACATCCCTAAGATGC	0.448																																						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.(1423-1425)atC>atT		suppressor of Ty 6 homolog (S. cerevisiae)							99.0	93.0	95.0					17																	27008349		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:27008349C>T	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.1425C>T	17.37:g.27008349C>T						SUPT6H_ENST00000347486.4_Silent_p.I475I	p.I475I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			12	1708	+	Lung NSC(42;0.00431)		475					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.1425C>T	CCDS32596.1																																																																																				0.448	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		4	331	0	0	0	1	0	4	331				
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:208062058C>T	ENST00000310833.7	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.R314H|CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	314					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(940-942)cGc>cAc		CD34 molecule		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	201.0	218.0	212.0		941,941	4.5	1.0	1	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD34	NM_001025109.1,NM_001773.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	314/386,314/329	208062058	1,13005	2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062058C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.941G>A	1.37:g.208062058C>T	ENSP00000310036:p.Arg314His					CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H	p.R314H	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			7	1262	-			314					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.941G>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605709	0.87157	0.0	1.16E-4	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.54	4.54	0.55810	.	0.125644	0.56097	D	0.000035	T	0.68247	0.2980	L	0.61036	1.89	0.49483	D	0.999791	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.71101	-0.4690	10	0.87932	D	0	-10.7555	13.0066	0.58707	0.0:1.0:0.0:0.0	.	179;314;314;156	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	H	314;314;156;179;284	ENSP00000310036:R314H;ENSP00000348916:R314H;ENSP00000356003:R156H;ENSP00000442874:R179H	ENSP00000310036:R314H	R	-	2	0	CD34	206128681	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	CGC		0.562	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		11	1204	0	0	0	1	0	11	1204				
NDP	4693	broad.mit.edu	37	X	43809108	43809108	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:43809108G>T	ENST00000378062.5	-	3	746	c.339C>A	c.(337-339)ggC>ggA	p.G113G	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	113	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						TGAGTCGCATGCCCCCTGAGC	0.602											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378062.5																			0				kidney(1)|lung(2)	3						c.(337-339)ggC>ggA		Norrie disease (pseudoglioma)							59.0	40.0	46.0					X																	43809108		2200	4297	6497	SO:0001819	synonymous_variant	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43809108G>T	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.339C>A	X.37:g.43809108G>T			OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	NDP_ENST00000470584.1_5'UTR|NDP-AS1_ENST00000435093.1_RNA	p.G113G	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN			3	746	-			113			CTCK.		B2R8K6|Q5JYH5	Silent	SNP	ENST00000378062.5	37	c.339C>A	CCDS14262.1																																																																																				0.602	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		4	33	1	0	1.024e-07	1	1.14156e-07	4	33				
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTTTTCTCTAGTGTTAGTCC	0.328																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e3-1		coiled-coil domain containing 18							115.0	105.0	108.0					1																	93649533		1810	4073	5883	SO:0001630	splice_region_variant	343099							g.chr1:93649533A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.135-1A>T	1.37:g.93649533A>T						CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site				Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	636	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	19.31	3.803472	0.70682	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000448243;ENST00000370276	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9043	0.63823	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93422121	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.947000	0.49058	2.306000	0.77630	0.482000	0.46254	.		0.328	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	7	118	0	0	0	1	0	7	118				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2404-2406)Taa>Aaa		PR domain containing 4							98.0	100.0	99.0					12																	108127989		2203	4300	6503	SO:0001578	stop_lost	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108127989A>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2404T>A	12.37:g.108127989A>T							p.*802K	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2863	-			0					Q9UFA6	Nonstop_Mutation	SNP	ENST00000228437.5	37	c.2404T>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072663	0.93950	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3011	0.66352	1.0:0.0:0.0:0.0	.	.	.	.	K	802	.	.	X	-	1	0	PRDM4	106652119	0.488000	0.25996	0.470000	0.27216	0.939000	0.58152	4.818000	0.62657	2.313000	0.78055	0.454000	0.30748	TAA		0.358	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		10	192	0	0	0	1	0	10	192				
NVL	4931	broad.mit.edu	37	1	224463162	224463162	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:224463162T>A	ENST00000281701.6	-	17	2222		c.e17-2		NVL_ENST00000391875.2_Splice_Site|NVL_ENST00000361463.3_Splice_Site|NVL_ENST00000469075.1_Splice_Site|NVL_ENST00000340871.4_Splice_Site|NVL_ENST00000482491.1_Splice_Site	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like							membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCAACATACTAAACATACAC	0.368																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.e17-2		nuclear VCP-like							94.0	89.0	91.0					1																	224463162		2203	4300	6503	SO:0001630	splice_region_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224463162T>A	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1963-2A>T	1.37:g.224463162T>A						NVL_ENST00000482491.1_Splice_Site|NVL_ENST00000340871.4_Splice_Site|NVL_ENST00000361463.3_Splice_Site|NVL_ENST00000469075.1_Splice_Site|NVL_ENST00000391875.2_Splice_Site		NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	17	2222	-								B4DMC4|B4DP98|Q96EM7	Splice_Site	SNP	ENST00000281701.6	37		CCDS1541.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517189	0.64634	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469968;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8485	0.70277	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NVL	222529785	1.000000	0.71417	0.929000	0.37066	0.542000	0.35054	7.595000	0.82710	1.980000	0.57719	0.460000	0.39030	.		0.368	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	Intron	11	442	0	0	0	1	0	11	442				
POLK	51426	broad.mit.edu	37	5	74889874	74889874	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:74889874G>A	ENST00000241436.4	+	12	1700	c.1528G>A	c.(1528-1530)Ggt>Agt	p.G510S	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Intron|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420S|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGGCTTATGGGTATGACTTT	0.353								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.e12+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							111.0	109.0	110.0					5																	74889874		2202	4300	6502	SO:0001630	splice_region_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74889874G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1528+1G>A	5.37:g.74889874G>A						POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420_splice|POLK_ENST00000352007.5_Intron|POLK_ENST00000506928.1_3'UTR	p.G510_splice	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	12	1700	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	510					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Splice_Site	SNP	ENST00000241436.4	37	c.1528_splice	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587397	0.96590	.	.	ENSG00000122008	ENST00000241436;ENST00000380481	D;D	0.82344	-1.6;-1.6	5.83	5.83	0.93111	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94982	0.8126	10	0.87932	D	0	-17.3401	20.1238	0.97972	0.0:0.0:1.0:0.0	.	510	Q9UBT6	POLK_HUMAN	S	510;420	ENSP00000241436:G510S;ENSP00000369848:G420S	ENSP00000241436:G510S	G	+	1	0	POLK	74925630	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.790000	0.99075	2.756000	0.94617	0.585000	0.79938	GGT		0.353	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	Missense_Mutation	116	57	0	0	0	1	0	116	57				
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152284263G>A	ENST00000368799.1	-	3	3134	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1033	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3097-3099)caC>caT		filaggrin							359.0	359.0	359.0					1																	152284263		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284263G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3099C>T	1.37:g.152284263G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1033H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3134	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1033			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3099C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	795	0	0	0	1	0	5	795				
SEPT12	124404	broad.mit.edu	37	16	4834040	4834040	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4834040T>C	ENST00000268231.8	-	5	667	c.404A>G	c.(403-405)gAg>gGg	p.E135G	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	135	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTCGTATTGCTCGTTGATGTA	0.622																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(403-405)gAg>gGg		septin 12							185.0	161.0	169.0					16																	4834040		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4834040T>C	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.404A>G	16.37:g.4834040T>C	ENSP00000268231:p.Glu135Gly					SEPT12_ENST00000396693.5_Intron	p.E135G	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			5	667	-			135					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.404A>G	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847336	0.32606	.	.	ENSG00000140623	ENST00000268231	T	0.55588	0.51	4.53	0.987	0.19790	.	0.456909	0.24226	N	0.040389	T	0.49167	0.1541	M	0.80422	2.495	0.35814	D	0.824106	B	0.12013	0.005	B	0.17979	0.02	T	0.49263	-0.8958	10	0.59425	D	0.04	.	5.1743	0.15127	0.0:0.1714:0.1675:0.6611	.	135	Q8IYM1	SEP12_HUMAN	G	135	ENSP00000268231:E135G	ENSP00000268231:E135G	E	-	2	0	SEPT12	4774041	0.999000	0.42202	0.976000	0.42696	0.467000	0.32768	4.093000	0.57714	-0.001000	0.14495	0.260000	0.18958	GAG		0.622	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		4	426	0	0	0	1	0	4	426				
RIF1	55183	broad.mit.edu	37	2	152314353	152314353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:152314353C>G	ENST00000243326.5	+	23	3214	c.2731C>G	c.(2731-2733)Caa>Gaa	p.Q911E	RIF1_ENST00000453091.2_Missense_Mutation_p.Q911E|RIF1_ENST00000430328.2_Missense_Mutation_p.Q911E|RIF1_ENST00000428287.2_Missense_Mutation_p.Q911E|RIF1_ENST00000444746.2_Missense_Mutation_p.Q911E			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTTCTTGAACAACTCTCCCC	0.363																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2731-2733)Caa>Gaa		RAP1 interacting factor homolog (yeast)							91.0	90.0	90.0					2																	152314353		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152314353C>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2731C>G	2.37:g.152314353C>G	ENSP00000243326:p.Gln911Glu					RIF1_ENST00000444746.2_Missense_Mutation_p.Q911E|RIF1_ENST00000428287.2_Missense_Mutation_p.Q911E|RIF1_ENST00000453091.2_Missense_Mutation_p.Q911E|RIF1_ENST00000430328.2_Missense_Mutation_p.Q911E	p.Q911E			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	23	3214	+			911					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2731C>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490595	0.44249	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	6.03	6.03	0.97812	.	0.688639	0.15646	N	0.251648	T	0.46639	0.1403	N	0.24115	0.695	0.80722	D	1	B;B	0.20550	0.015;0.046	B;B	0.14578	0.008;0.011	T	0.33701	-0.9858	10	0.20519	T	0.43	0.5703	11.4551	0.50176	0.1396:0.7257:0.1347:0.0	.	911;911	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	E	911	ENSP00000390181:Q911E;ENSP00000414615:Q911E;ENSP00000415691:Q911E;ENSP00000243326:Q911E;ENSP00000416123:Q911E	ENSP00000243326:Q911E	Q	+	1	0	RIF1	152022599	0.996000	0.38824	0.977000	0.42913	0.985000	0.73830	0.999000	0.29757	2.861000	0.98227	0.655000	0.94253	CAA		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	87	0	0	0	1	0	8	87				
CCDC181	57821	broad.mit.edu	37	1	169390632	169390632	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:169390632A>T	ENST00000367806.3	-	3	1189	c.1037T>A	c.(1036-1038)cTa>cAa	p.L346Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.L346Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	346						nucleus (GO:0005634)											CTTTTCTTCTAGTTGTTTTTG	0.368																																						ENST00000545005.1																			0											c.(1036-1038)cTa>cAa		coiled-coil domain containing 181							63.0	60.0	61.0					1																	169390632		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390632A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1037T>A	1.37:g.169390632A>T	ENSP00000356780:p.Leu346Gln					CCDC181_ENST00000367806.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L346Q|CCDC181_ENST00000491570.1_5'UTR	p.L346Q							4	1544	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1037T>A		.	.	.	.	.	.	.	.	.	.	A	11.28	1.591928	0.28357	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.27402	1.86;1.86;1.86;1.67	5.32	4.17	0.49024	.	0.437819	0.23847	N	0.043981	T	0.39118	0.1066	M	0.69823	2.125	0.41978	D	0.990781	B;D;D	0.76494	0.328;0.999;0.999	B;D;D	0.65874	0.104;0.939;0.939	T	0.46091	-0.9216	9	0.62326	D	0.03	-8.322	11.4469	0.50129	0.8648:0.0:0.0:0.1352	.	346;346;346	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	346	ENSP00000356779:L346Q;ENSP00000356780:L346Q;ENSP00000442297:L346Q;ENSP00000411000:L346Q	ENSP00000356779:L346Q	L	-	2	0	C1orf114	167657256	0.120000	0.22244	0.003000	0.11579	0.156000	0.22039	3.047000	0.49854	0.825000	0.34637	0.374000	0.22700	CTA		0.368	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		8	169	0	0	0	1	0	8	169				
ZFHX3	463	broad.mit.edu	37	16	72831569	72831569	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:72831569G>A	ENST00000268489.5	-	9	5684	c.5012C>T	c.(5011-5013)gCt>gTt	p.A1671V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A757V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1671					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCAATGCCAGCACTGCTTGG	0.542																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5011-5013)gCt>gTt		zinc finger homeobox 3							128.0	106.0	114.0					16																	72831569		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831569G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5012C>T	16.37:g.72831569G>A	ENSP00000268489:p.Ala1671Val					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A757V	p.A1671V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5684	-		Ovarian(137;0.13)	1671					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.5012C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	g	1.400	-0.578278	0.03854	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73258	-0.73;-0.71	5.87	1.55	0.23275	.	0.460652	0.18047	N	0.153425	T	0.42877	0.1222	N	0.08118	0	0.23681	N	0.99712	B	0.02656	0.0	B	0.04013	0.001	T	0.20571	-1.0271	10	0.13470	T	0.59	.	6.6947	0.23193	0.2071:0.1274:0.6655:0.0	.	1671	Q15911	ZFHX3_HUMAN	V	1671;757	ENSP00000268489:A1671V;ENSP00000438926:A757V	ENSP00000268489:A1671V	A	-	2	0	ZFHX3	71389070	1.000000	0.71417	0.555000	0.28281	0.002000	0.02628	4.636000	0.61339	0.503000	0.28060	-0.726000	0.03593	GCT		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		5	455	0	0	0	1	0	5	455				
AP1S3	130340	broad.mit.edu	37	2	224640714	224640714	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:224640714T>A	ENST00000446015.2	-	3	228	c.195A>T	c.(193-195)ttA>ttT	p.L65F	AP1S3_ENST00000423110.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396654.2_Missense_Mutation_p.L65F|AP1S3_ENST00000409375.1_Missense_Mutation_p.L65F|AP1S3_ENST00000443700.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396653.2_Intron			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	65					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AGCAAAAATATAAACTAGCAT	0.368																																						ENST00000443700.1																			0				NS(1)|breast(1)|lung(2)	4						c.(193-195)ttA>ttT		adaptor-related protein complex 1, sigma 3 subunit							72.0	64.0	67.0					2																	224640714		1874	4110	5984	SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224640714T>A	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.195A>T	2.37:g.224640714T>A	ENSP00000388738:p.Leu65Phe					AP1S3_ENST00000423110.1_Missense_Mutation_p.L65F|AP1S3_ENST00000396653.2_Intron|AP1S3_ENST00000396654.2_Missense_Mutation_p.L65F|AP1S3_ENST00000446015.2_Missense_Mutation_p.L65F|AP1S3_ENST00000409375.1_Missense_Mutation_p.L65F	p.L65F			Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	346	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	65					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	SNP	ENST00000446015.2	37	c.195A>T		.	.	.	.	.	.	.	.	.	.	T	21.1	4.104588	0.77096	.	.	ENSG00000152056	ENST00000443700;ENST00000396654;ENST00000446015;ENST00000409375;ENST00000423110	.	.	.	6.17	3.81	0.43845	Clathrin adaptor complex, small chain (1);Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.87452	0.2402	9	0.87932	D	0	.	8.5903	0.33684	0.0:0.2872:0.0:0.7128	.	65;65	Q96PC3;Q96PC3-4	AP1S3_HUMAN;.	F	65	.	ENSP00000379891:L65F	L	-	3	2	AP1S3	224348958	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.511000	0.22739	0.569000	0.29329	0.533000	0.62120	TTA		0.368	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			5	113	0	0	0	1	0	5	113				
VPS13C	54832	broad.mit.edu	37	15	62168046	62168046	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:62168046T>A	ENST00000261517.5	-	76	10298		c.e76-2		VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000558919.1_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTCAAGAACTAAAAAAGAAA	0.289																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.e76-2		vacuolar protein sorting 13 homolog C (S. cerevisiae)							56.0	55.0	55.0					15																	62168046		2203	4295	6498	SO:0001630	splice_region_variant	54832				protein localization			g.chr15:62168046T>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10225-2A>T	15.37:g.62168046T>A						VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000558919.1_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site		NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			76	10298	-									Splice_Site	SNP	ENST00000261517.5	37		CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937801	0.52972	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6632	0.68888	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	59955338	1.000000	0.71417	0.940000	0.37924	0.584000	0.36387	7.647000	0.83462	1.873000	0.54277	0.383000	0.25322	.		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	Intron	4	32	0	0	0	1	0	4	32				
USP43	124739	broad.mit.edu	37	17	9583639	9583639	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:9583639A>T	ENST00000285199.7	+	6	1157	c.1061A>T	c.(1060-1062)tAt>tTt	p.Y354F	USP43_ENST00000570475.1_Missense_Mutation_p.Y354F|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	354	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GATAATGTGTATGCCTTTCAA	0.453																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(127-129)tAt>tTt		ubiquitin specific peptidase 43							120.0	112.0	115.0					17																	9583639		1887	4110	5997	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9583639A>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1061A>T	17.37:g.9583639A>T	ENSP00000285199:p.Tyr354Phe					USP43_ENST00000285199.6_Missense_Mutation_p.Y354F|USP43_ENST00000570475.1_Missense_Mutation_p.Y354F|USP43_ENST00000575346.1_3'UTR	p.Y43F			Q70EL4	UBP43_HUMAN			6	1202	+			354					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.128A>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313395	0.81358	.	.	ENSG00000154914	ENST00000285199	T	0.10192	2.9	5.64	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.15912	0.0383	L	0.31120	0.905	0.58432	D	0.999992	D;D;D	0.89917	0.999;1.0;0.994	D;D;D	0.87578	0.992;0.998;0.947	T	0.09509	-1.0671	10	0.07175	T	0.84	-14.528	9.8045	0.40783	0.846:0.0:0.0:0.154	.	354;43;354	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	F	354	ENSP00000285199:Y354F	ENSP00000285199:Y354F	Y	+	2	0	USP43	9524364	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.272000	0.65559	2.153000	0.67306	0.482000	0.46254	TAT		0.453	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		4	154	0	0	0	1	0	4	154				
ANKRD52	283373	broad.mit.edu	37	12	56642010	56642010	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56642010T>A	ENST00000267116.7	-	18	1898		c.e18-2			NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52											endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTTGTAGGCCTGGCAAGGTGC	0.612																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.e18-2		ankyrin repeat domain 52							71.0	71.0	71.0					12																	56642010		2117	4236	6353	SO:0001630	splice_region_variant	283373						protein binding	g.chr12:56642010T>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1777-2A>T	12.37:g.56642010T>A								NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			18	1898	-								A6NE79|B1Q2K2	Splice_Site	SNP	ENST00000267116.7	37		CCDS44920.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.008908	0.54361	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2155	0.59856	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD52	54928277	1.000000	0.71417	0.986000	0.45419	0.490000	0.33462	7.592000	0.82676	2.034000	0.60081	0.260000	0.18958	.		0.612	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	Intron	4	409	0	0	0	1	0	4	409				
HIST2H2BF	440689	broad.mit.edu	37	1	149783718	149783718	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:149783718C>T	ENST00000369167.1	-	1	196	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	54					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGACGAGATGCCGGTGTCGGG	0.597																																						ENST00000427880.2																			2	Substitution - Missense(2)	p.G54D(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(160-162)gGc>gAc		histone cluster 2, H2bf							157.0	145.0	149.0					1																	149783718		2203	4297	6500	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783718C>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.161G>A	1.37:g.149783718C>T	ENSP00000358164:p.Gly54Asp					HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.G54D|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.G54D	p.G54D			Q5QNW6	H2B2F_HUMAN			1	207	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.161G>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056130	0.93793	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.69435	-0.4;-0.4;-0.4	3.52	3.52	0.40303	Histone-fold (2);Histone core (1);	0.000000	0.49305	D	0.000147	D	0.86810	0.6022	H	0.98487	4.245	0.53688	D	0.999974	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.81914	0.995;0.99;0.964	D	0.91519	0.5233	10	0.87932	D	0	.	14.9173	0.70807	0.0:1.0:0.0:0.0	.	54;54;54	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	54	ENSP00000445831:G54D;ENSP00000407461:G54D;ENSP00000358164:G54D	ENSP00000358164:G54D	G	-	2	0	HIST2H2BF	148050342	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.994000	0.76251	2.283000	0.76528	0.184000	0.17185	GGC		0.597	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		12	1028	0	0	0	1	0	12	1028				
PDLIM4	8572	broad.mit.edu	37	5	131598428	131598428	+	Missense_Mutation	SNP	G	G	T	rs138635559	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:131598428G>T	ENST00000253754.3	+	2	284	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	74	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTGCCACGATCACCTCAC	0.597																																						ENST00000253754.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10						c.(220-222)Gat>Tat		PDZ and LIM domain 4							97.0	69.0	78.0					5																	131598428		2203	4300	6503	SO:0001583	missense	8572						protein binding|zinc ion binding	g.chr5:131598428G>T	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.220G>T	5.37:g.131598428G>T	ENSP00000253754:p.Asp74Tyr					P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y	p.D74Y	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	284	+			74			PDZ.		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	c.220G>T	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091780	0.55968	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.39997	1.6;1.6;1.05	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.175857	0.49305	D	0.000154	T	0.61324	0.2338	L	0.59967	1.855	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.986;0.995;0.955	T	0.57545	-0.7793	10	0.40728	T	0.16	-25.7237	17.141	0.86752	0.0:0.0:1.0:0.0	.	74;15;74	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	Y	74;74;15	ENSP00000253754:D74Y;ENSP00000368303:D74Y;ENSP00000411753:D15Y	ENSP00000253754:D74Y	D	+	1	0	PDLIM4	131626327	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	6.552000	0.73914	2.642000	0.89623	0.655000	0.94253	GAT		0.597	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		23	76	1	0	4.43304e-23	1	5.14399e-23	23	76				
TNRC6B	23112	broad.mit.edu	37	22	40662685	40662685	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:40662685T>A	ENST00000454349.2	+	5	2662	c.2451T>A	c.(2449-2451)aaT>aaA	p.N817K	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.N817K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	817	Interaction with argonaute proteins.				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						ATTCCTGGAATAAACAACACC	0.592																																						ENST00000454349.2																			0				breast(1)	1						c.(2449-2451)aaT>aaA		trinucleotide repeat containing 6B							66.0	81.0	76.0					22																	40662685		2063	4211	6274	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662685T>A	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.2451T>A	22.37:g.40662685T>A	ENSP00000401946:p.Asn817Lys					TNRC6B_ENST00000335727.8_Missense_Mutation_p.N817K|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	p.N817K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2662	+			817					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2451T>A	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.13|18.13	3.554482|3.554482	0.65425|0.65425	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.11712	.|2.76;2.75	5.35|5.35	-0.331|-0.331	0.12679|0.12679	.|.	.|0.369559	.|0.31461	.|N	.|0.007612	T|T	0.18718|0.18718	0.0449|0.0449	L|L	0.43152|0.43152	1.355|1.355	0.33224|0.33224	D|D	0.555042|0.555042	.|B;D;D	.|0.61080	.|0.1;0.981;0.989	.|B;D;D	.|0.70487	.|0.024;0.932;0.969	T|T	0.10177|0.10177	-1.0641|-1.0641	5|10	.|0.21540	.|T	.|0.41	-0.1435|-0.1435	11.4258|11.4258	0.50009|0.50009	0.0:0.5744:0.0:0.4256|0.0:0.5744:0.0:0.4256	.|.	.|817;817;817	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	K|K	560|817	.|ENSP00000401946:N817K;ENSP00000338371:N817K	.|ENSP00000338371:N817K	I|N	+|+	2|3	0|2	TNRC6B|TNRC6B	38992631|38992631	0.999000|0.999000	0.42202|0.42202	0.992000|0.992000	0.48379|0.48379	0.969000|0.969000	0.65631|0.65631	0.642000|0.642000	0.24735|0.24735	-0.146000|-0.146000	0.11274|0.11274	0.459000|0.459000	0.35465|0.35465	ATA|AAT		0.592	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	220	0	0	0	1	0	5	220				
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:113374871A>T	ENST00000478658.1	-	5	5675	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000316407.4_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1886						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5656-5658)atT>atA		KIAA2018							112.0	106.0	108.0					3																	113374871		1915	4134	6049	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374871A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5658T>A	3.37:g.113374871A>T						KIAA2018_ENST00000478658.1_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron	p.I1886I	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	6068	-			1886					Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.5658T>A	CCDS43133.1																																																																																				0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	132	0	0	0	1	0	5	132				
MGEA5	10724	broad.mit.edu	37	10	103559214	103559214	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:103559214T>A	ENST00000361464.3	-	9	1591		c.e9-2		MGEA5_ENST00000370094.3_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000482611.1_5'Flank|MGEA5_ENST00000439817.1_Splice_Site	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGCCTACCTACAAAAATAA	0.348																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.e9-2		meningioma expressed antigen 5 (hyaluronidase)							58.0	66.0	63.0					10																	103559214		2200	4299	6499	SO:0001630	splice_region_variant	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103559214T>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1196-2A>T	10.37:g.103559214T>A						MGEA5_ENST00000370094.3_Splice_Site|MGEA5_ENST00000357797.5_Splice_Site|MGEA5_ENST00000439817.1_Splice_Site		NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1591	-		Colorectal(252;0.207)						B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Splice_Site	SNP	ENST00000361464.3	37		CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069606	0.55539	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MGEA5	103549204	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.161000	0.77505	2.367000	0.80283	0.528000	0.53228	.		0.348	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215	Intron	5	97	0	0	0	1	0	5	97				
OR4D1	26689	broad.mit.edu	37	17	56232618	56232618	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:56232618A>T	ENST00000268912.5	+	1	125	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	35					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGTTAGTCTATGTTACCACC	0.463																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily D, member 1							150.0	149.0	149.0					17																	56232618		2037	4214	6251	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232618A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.104A>T	17.37:g.56232618A>T	ENSP00000365451:p.Tyr35Phe						p.Y35F	NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN			1	125	+			35					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.104A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	15.28	2.787754	0.49997	.	.	ENSG00000141194	ENST00000268912	T	0.04406	3.63	5.63	5.63	0.86233	.	0.000000	0.37437	U	0.002095	T	0.17874	0.0429	M	0.78344	2.41	0.09310	N	1	D	0.55385	0.971	P	0.57324	0.818	T	0.04128	-1.0975	10	0.87932	D	0	-16.5865	13.7938	0.63157	1.0:0.0:0.0:0.0	.	35	Q15615	OR4D1_HUMAN	F	35	ENSP00000365451:Y35F	ENSP00000365451:Y35F	Y	+	2	0	OR4D1	53587617	0.997000	0.39634	0.586000	0.28679	0.233000	0.25261	4.265000	0.58865	2.142000	0.66516	0.443000	0.29094	TAT		0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			5	420	0	0	0	1	0	5	420				
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	rs545954539		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1822-1824)cGa>cAa		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						53.0	53.0	53.0					12																	6457292		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6457292C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1757G>A	12.37:g.6457292C>T	ENSP00000228916:p.Arg586Gln					SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R586Q	p.R608Q			P37088	SCNNA_HUMAN			13	2263	-			586					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1823G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA		0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			6	65	0	0	0	1	0	6	65				
DCLK1	9201	broad.mit.edu	37	13	36383156	36383156	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:36383156C>A	ENST00000360631.3	-	13	1976	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	DCLK1_ENST00000379893.1_Splice_Site_p.G282*|DCLK1_ENST00000255448.4_Splice_Site_p.G589*			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	589	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCCCATACCCACGGAATGGA	0.478																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.e13+1		doublecortin-like kinase 1							94.0	82.0	86.0					13																	36383156		2203	4300	6503	SO:0001630	splice_region_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36383156C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1766+1G>T	13.37:g.36383156C>A						DCLK1_ENST00000360631.3_Splice_Site_p.G589_splice|DCLK1_ENST00000379893.1_Splice_Site_p.G282_splice	p.G589_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	13	1976	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	589			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Splice_Site	SNP	ENST00000360631.3	37	c.1766_splice		.	.	.	.	.	.	.	.	.	.	C	41	8.858504	0.98980	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.3955	0.94605	0.0:1.0:0.0:0.0	.	.	.	.	X	281;589;589;282;571	.	ENSP00000255448:G589X	G	-	1	0	DCLK1	35281156	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.992000	0.70609	2.589000	0.87451	0.557000	0.71058	GGA		0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	Nonsense_Mutation	5	251	1	0	0.00198382	1	0.00207374	5	251				
KAT6B	23522	broad.mit.edu	37	10	76748798	76748798	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:76748798T>A	ENST00000287239.4	+	13	3046	c.2557T>A	c.(2557-2559)Tat>Aat	p.Y853N	KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	853	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCAGCAGAAGTATAATGTCTC	0.448																																						ENST00000287239.4																			0											c.(2557-2559)Tat>Aat		K(lysine) acetyltransferase 6B							158.0	156.0	157.0					10																	76748798		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76748798T>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2557T>A	10.37:g.76748798T>A	ENSP00000287239:p.Tyr853Asn					KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N	p.Y853N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			13	3046	+			853			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2557T>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245887	0.39697	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79141	-1.17;-1.17;-1.24;-1.17;-1.21	5.85	4.71	0.59529	.	0.150617	0.30879	N	0.008689	D	0.82379	0.5024	L	0.49513	1.565	0.58432	D	0.999999	D;P;D	0.71674	0.997;0.915;0.998	P;B;P	0.62491	0.903;0.403;0.835	T	0.82633	-0.0361	10	0.59425	D	0.04	-10.4689	11.9333	0.52860	0.0:0.0683:0.0:0.9317	.	670;561;853	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	561;561;853;561;670	ENSP00000361810:Y561N;ENSP00000361809:Y561N;ENSP00000287239:Y853N;ENSP00000361799:Y561N;ENSP00000361796:Y670N	ENSP00000287239:Y853N	Y	+	1	0	KAT6B	76418804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.022000	0.39626	0.528000	0.53228	TAT		0.448	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		42	197	0	0	0	1	0	42	197				
USP11	8237	broad.mit.edu	37	X	47099251	47099251	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:47099251G>A	ENST00000218348.3	+	4	609	c.609G>A	c.(607-609)cgG>cgA	p.R203R	USP11_ENST00000377107.2_Silent_p.R160R	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	203					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCTTGTCCGGCACAATGATT	0.498																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(478-480)cgG>cgA		ubiquitin specific peptidase 11							214.0	155.0	175.0					X																	47099251		2203	4300	6503	SO:0001819	synonymous_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099251G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.609G>A	X.37:g.47099251G>A						USP11_ENST00000218348.3_Silent_p.R203R	p.R160R			P51784	UBP11_HUMAN			4	834	+			203	A -> R (in Ref. 3; BAC20463).		DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	c.480G>A	CCDS14277.1																																																																																				0.498	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		5	590	0	0	0	1	0	5	590				
OR2T27	403239	broad.mit.edu	37	1	248813490	248813490	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:248813490C>T	ENST00000344889.3	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTCCCCTCTGCCTCGC	0.502																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(694-696)gaG>gaA		olfactory receptor, family 2, subfamily T, member 27							45.0	29.0	34.0					1																	248813490		2182	4248	6430	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813490C>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.696G>A	1.37:g.248813490C>T							p.E232E	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	695	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	232						Silent	SNP	ENST00000344889.3	37	c.696G>A	CCDS31124.1																																																																																				0.502	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		15	51	0	0	0	1	0	15	51				
GLCCI1	113263	broad.mit.edu	37	7	8126006	8126006	+	Silent	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:8126006T>G	ENST00000223145.5	+	8	2039	c.1482T>G	c.(1480-1482)gtT>gtG	p.V494V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTGACCGTTGAGCAGCTCT	0.557																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1480-1482)gtT>gtG		glucocorticoid induced transcript 1							191.0	209.0	203.0					7																	8126006		2203	4300	6503	SO:0001819	synonymous_variant	113263							g.chr7:8126006T>G	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1482T>G	7.37:g.8126006T>G							p.V494V	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2039	+		Ovarian(82;0.0608)	494					A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	c.1482T>G	CCDS34601.1																																																																																				0.557	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		176	570	0	0	0	1	0	176	570				
UBA7	7318	broad.mit.edu	37	3	49847308	49847308	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:49847308G>T	ENST00000333486.3	-	15	2002	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	615					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATGCCGGGCCCACTGTGG	0.587																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1843-1845)gCc>gAc		ubiquitin-like modifier activating enzyme 7							89.0	95.0	93.0					3																	49847308		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847308G>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1844C>A	3.37:g.49847308G>T	ENSP00000333266:p.Ala615Asp						p.A615D	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	15	2002	-			615					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.1844C>A	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482713	0.96307	.	.	ENSG00000182179	ENST00000333486	T	0.47177	0.85	6.07	6.07	0.98685	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.048738	0.85682	D	0.000000	T	0.79534	0.4462	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84602	0.0673	10	0.87932	D	0	-20.715	18.8245	0.92111	0.0:0.0:1.0:0.0	.	615	P41226	UBA7_HUMAN	D	615	ENSP00000333266:A615D	ENSP00000333266:A615D	A	-	2	0	UBA7	49822312	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	6.299000	0.72770	2.884000	0.98904	0.655000	0.94253	GCC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		71	32	1	0	6.5469e-37	1	7.76786e-37	71	32				
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:42022431A>T	ENST00000264451.7	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e4-1		solute carrier family 30 (zinc transporter), member 9							126.0	115.0	119.0					4																	42022431		2203	4299	6502	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022431A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.335-1A>T	4.37:g.42022431A>T								NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN			4	514	+								Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Splice_Site	SNP	ENST00000264451.7	37		CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592832	0.86953	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC30A9	41717188	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Intron	5	74	0	0	0	1	0	5	74				
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	PDE4DIP_ENST00000369359.4_Silent_p.T2276T|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6826-6828)acG>acA		phosphodiesterase 4D interacting protein							256.0	282.0	273.0					1																	144857634		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144857634C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6420G>A	1.37:g.144857634C>T						PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369354.3_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T	p.T2276T			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	42	6866	-			2140					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6828G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		111	641	0	0	0	1	0	111	641				
TTN	7273	broad.mit.edu	37	2	179600277	179600277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:179600277C>T	ENST00000591111.1	-	48	14169	c.13945G>A	c.(13945-13947)Gct>Act	p.A4649T	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A4966T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12399	Ig-like 26.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCCAGCCTCATTTGAA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14896-14898)Gct>Act		titin							42.0	41.0	41.0					2																	179600277		1862	4109	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600277C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13945G>A	2.37:g.179600277C>T	ENSP00000465570:p.Ala4649Thr					TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN_ENST00000591111.1_Missense_Mutation_p.A4649T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.A4966T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	15120	-			4649			Ig-like 30.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14896G>A		.	.	.	.	.	.	.	.	.	.	C	15.58	2.875736	0.51695	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80460	0.4627	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80450	-0.1377	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	4649	Q8WZ42	TITIN_HUMAN	T	3722	ENSP00000343764:A3722T	ENSP00000343764:A3722T	A	-	1	0	TTN	179308522	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	32	0	0	0	1	0	31	32				
LTBP2	4053	broad.mit.edu	37	14	74973489	74973489	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:74973489G>A	ENST00000261978.4	-	27	4331	c.3945C>T	c.(3943-3945)agC>agT	p.S1315S	LTBP2_ENST00000556690.1_Silent_p.S1271S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1315	Cys-rich.|EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGAAGCCGTGGCTGCCACACA	0.597																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3943-3945)agC>agT		latent transforming growth factor beta binding protein 2							103.0	72.0	83.0					14																	74973489		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74973489G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3945C>T	14.37:g.74973489G>A						LTBP2_ENST00000556690.1_Silent_p.S1271S	p.S1315S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	27	4331	-			1315			Cys-rich.|EGF-like 15; calcium-binding (Potential).		Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.3945C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	9.066	0.995689	0.19043	.	.	ENSG00000119681	ENST00000556206	.	.	.	4.71	2.86	0.33363	.	.	.	.	.	T	0.61110	0.2321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56547	-0.7961	4	.	.	.	.	10.7427	0.46162	0.1549:0.0:0.8451:0.0	.	.	.	.	S	207	.	.	P	-	1	0	LTBP2	74043242	0.921000	0.31238	0.992000	0.48379	0.846000	0.48090	1.396000	0.34531	0.585000	0.29608	0.561000	0.74099	CCA		0.597	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		16	35	0	0	0	1	0	16	35				
PLTP	5360	broad.mit.edu	37	20	44531163	44531163	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:44531163G>T	ENST00000477313.1	-	10	1617	c.1023C>A	c.(1021-1023)ggC>ggA	p.G341G	PLTP_ENST00000420868.2_Silent_p.G246G|PLTP_ENST00000542937.1_Silent_p.G361G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000372431.3_Silent_p.G341G			P55058	PLTP_HUMAN	phospholipid transfer protein	341					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGATGGTGGTGCCAGAGGGCT	0.627																																						ENST00000477313.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1021-1023)ggC>ggA		phospholipid transfer protein							60.0	54.0	56.0					20																	44531163		2203	4300	6503	SO:0001819	synonymous_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44531163G>T	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1023C>A	20.37:g.44531163G>T						PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000542937.1_Silent_p.G361G|PLTP_ENST00000372431.3_Silent_p.G341G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000420868.2_Silent_p.G246G	p.G341G			P55058	PLTP_HUMAN			10	1617	-		Myeloproliferative disorder(115;0.0122)	341					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.1023C>A	CCDS13386.1																																																																																				0.627	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		49	140	1	0	1.62263e-30	1	1.91907e-30	49	140				
MAP1B	4131	broad.mit.edu	37	5	71495925	71495925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:71495925C>T	ENST00000296755.7	+	5	7041	c.6743C>T	c.(6742-6744)cCa>cTa	p.P2248L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2248					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAAAAGCCAGGTACAAAG	0.488																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6742-6744)cCa>cTa		microtubule-associated protein 1B							104.0	107.0	106.0					5																	71495925		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495925C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6743C>T	5.37:g.71495925C>T	ENSP00000296755:p.Pro2248Leu						p.P2248L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	7041	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2248					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6743C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782718	0.31502	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	6.03	6.03	0.97812	.	0.087376	0.50627	D	0.000112	T	0.03695	0.0105	L	0.38175	1.15	0.51012	D	0.999902	P;B	0.35551	0.509;0.01	B;B	0.30495	0.116;0.005	T	0.43327	-0.9398	10	0.62326	D	0.03	-11.8486	9.2493	0.37545	0.2148:0.7154:0.0:0.0698	.	2122;2248	A2BDK6;P46821	.;MAP1B_HUMAN	L	2248	ENSP00000296755:P2248L	ENSP00000296755:P2248L	P	+	2	0	MAP1B	71531681	0.847000	0.29606	0.999000	0.59377	0.985000	0.73830	1.394000	0.34509	2.861000	0.98227	0.655000	0.94253	CCA		0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		5	692	0	0	0	1	0	5	692				
EHD3	30845	broad.mit.edu	37	2	31484438	31484438	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:31484438T>C	ENST00000322054.5	+	5	1224	c.939T>C	c.(937-939)tcT>tcC	p.S313S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	313					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATCAGCTCTCTGAAGAAGG	0.562																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(937-939)tcT>tcC		EH-domain containing 3							139.0	126.0	130.0					2																	31484438		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484438T>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.939T>C	2.37:g.31484438T>C						EHD3_ENST00000541626.1_Intron	p.S313S	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			5	1224	+	Acute lymphoblastic leukemia(172;0.155)		313					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.939T>C	CCDS1774.1																																																																																				0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		115	580	0	0	0	1	0	115	580				
GULP1	51454	broad.mit.edu	37	2	189458666	189458666	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:189458666G>A	ENST00000409580.1	+	13	1557		c.e13-1		GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CTGTTTTACAGGAGGGGTTCA	0.338																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.e13-1		GULP, engulfment adaptor PTB domain containing 1							89.0	92.0	91.0					2																	189458666		2203	4300	6503	SO:0001630	splice_region_variant	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189458666G>A	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.844-1G>A	2.37:g.189458666G>A						GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site				Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		13	1557	+								B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Splice_Site	SNP	ENST00000409580.1	37		CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400570	0.83120	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609;ENST00000433052	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7667	0.91876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GULP1	189166911	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	.		0.338	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315	Intron	17	62	0	0	0	1	0	17	62				
PRKDC	5591	broad.mit.edu	37	8	48690437	48690437	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:48690437T>A	ENST00000523565.1	-	84	11909		c.e84-2		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						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)	TGGCAGAAACTAAACAAGAAA	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.e85-2	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							53.0	53.0	53.0					8																	48690437		1956	4161	6117	SO:0001630	splice_region_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.chr8:48690437T>A		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		ENST00000523565.1:c.1600-2A>T	8.37:g.48690437T>A						PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site		NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			85	11907	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)						P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37			.	.	.	.	.	.	.	.	.	.	T	13.12	2.143044	0.37825	.	.	ENSG00000253729	ENST00000314191;ENST00000338368;ENST00000536429	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7616	0.78087	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48852990	1.000000	0.71417	0.992000	0.48379	0.084000	0.17831	7.575000	0.82447	2.121000	0.65114	0.533000	0.62120	.		0.423	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron	5	45	0	0	0	1	0	5	45				
FAM180A	389558	broad.mit.edu	37	7	135419056	135419056	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:135419056G>A	ENST00000338588.3	-	3	454	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FAM180A_ENST00000415751.1_Silent_p.A63A|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	63						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TCTCAAGTTCGGCCAGCAGGA	0.532																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(187-189)gcC>gcT		family with sequence similarity 180, member A							54.0	54.0	54.0					7																	135419056		2203	4300	6503	SO:0001819	synonymous_variant	389558					extracellular region		g.chr7:135419056G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.189C>T	7.37:g.135419056G>A						FAM180A_ENST00000415751.1_Silent_p.A63A	p.A63A	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	454	-			63					B2RP85	Silent	SNP	ENST00000338588.3	37	c.189C>T	CCDS5841.1																																																																																				0.532	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		5	477	0	0	0	1	0	5	477				
GOLIM4	27333	broad.mit.edu	37	3	167750471	167750471	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:167750471T>G	ENST00000470487.1	-	9	1702	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	338	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTTCTGTGCTCCTCTTCCAC	0.552																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1012-1014)gAg>gCg		golgi integral membrane protein 4							176.0	164.0	168.0					3																	167750471		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750471T>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1013A>C	3.37:g.167750471T>G	ENSP00000417354:p.Glu338Ala					GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	p.E338A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			9	1702	-			338			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1013A>C	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453888	0.84209	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.24	5.24	0.73138	.	0.094831	0.64402	D	0.000001	T	0.71771	0.3379	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.63046	0.984;0.992	P;P	0.57152	0.701;0.814	T	0.69892	-0.5022	9	0.12103	T	0.63	-21.2002	14.832	0.70156	0.0:0.0:0.0:1.0	.	310;338	F8W785;O00461	.;GOLI4_HUMAN	A	338;310	.	ENSP00000309893:E310A	E	-	2	0	GOLIM4	169233165	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.365000	0.66116	1.993000	0.58246	0.449000	0.29647	GAG		0.552	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			219	95	0	0	0	1	0	219	95				
CENPE	1062	broad.mit.edu	37	4	104098121	104098121	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:104098121A>T	ENST00000265148.3	-	14	1414	c.1325T>A	c.(1324-1326)aTa>aAa	p.I442K	CENPE_ENST00000380026.3_Missense_Mutation_p.I442K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	442					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTGTTGGTATATTAAATTG	0.284																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(1324-1326)aTa>aAa		centromere protein E, 312kDa							92.0	89.0	90.0					4																	104098121		2200	4286	6486	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104098121A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1325T>A	4.37:g.104098121A>T	ENSP00000265148:p.Ile442Lys					CENPE_ENST00000380026.3_Missense_Mutation_p.I442K	p.I442K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	14	1414	-			442					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.1325T>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562234	0.27915	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.54071	0.59;0.59;0.59	5.4	1.18	0.20946	.	.	.	.	.	T	0.32194	0.0821	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.11329	0.006;0.004	T	0.16719	-1.0393	9	0.21540	T	0.41	.	3.0846	0.06273	0.5346:0.2607:0.078:0.1267	.	442;442	Q02224-3;Q02224	.;CENPE_HUMAN	K	442	ENSP00000265148:I442K;ENSP00000369365:I442K;ENSP00000423981:I442K	ENSP00000265148:I442K	I	-	2	0	CENPE	104317570	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.276000	0.18716	0.843000	0.35070	0.533000	0.62120	ATA		0.284	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	22	0	0	0	1	0	3	22				
CPOX	1371	broad.mit.edu	37	3	98307628	98307628	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:98307628G>A	ENST00000264193.2	-	4	1100	c.882C>T	c.(880-882)gtC>gtT	p.V294V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	294			V -> I (in dbSNP:rs2228056). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7849704, ECO:0000269|Ref.3}.		heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGTGAAAATGGACAGCGTCTT	0.433																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(880-882)gtC>gtT		coproporphyrinogen oxidase							120.0	109.0	113.0					3																	98307628		2203	4300	6503	SO:0001819	synonymous_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98307628G>A	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.882C>T	3.37:g.98307628G>A							p.V294V	NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN			4	1100	-			294		V -> I (in dbSNP:rs2228056).			A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Silent	SNP	ENST00000264193.2	37	c.882C>T	CCDS2932.1																																																																																				0.433	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		7	57	0	0	0	1	0	7	57				
ITIH2	3698	broad.mit.edu	37	10	7786826	7786826	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:7786826A>T	ENST00000358415.4	+	19	2647	c.2481A>T	c.(2479-2481)ttA>ttT	p.L827F	ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	827					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTGTTTTACTTCATCGTG	0.418																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2479-2481)ttA>ttT		inter-alpha-trypsin inhibitor heavy chain 2							152.0	141.0	145.0					10																	7786826		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7786826A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2481A>T	10.37:g.7786826A>T	ENSP00000351190:p.Leu827Phe					ITIH2_ENST00000379587.4_Missense_Mutation_p.L816F	p.L827F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			19	2647	+			827					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2481A>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666846	0.67814	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.16743	2.32;2.32	5.79	0.193	0.15139	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.37598	0.1009	M	0.86028	2.79	0.48236	D	0.999614	D	0.67145	0.996	D	0.70935	0.971	T	0.13098	-1.0522	10	0.87932	D	0	-8.9701	6.583	0.22605	0.3904:0.0:0.4775:0.1321	.	827	P19823	ITIH2_HUMAN	F	827;816	ENSP00000351190:L827F;ENSP00000368906:L816F	ENSP00000351190:L827F	L	+	3	2	ITIH2	7826832	0.997000	0.39634	0.965000	0.40720	0.859000	0.49053	0.372000	0.20467	0.022000	0.15160	0.482000	0.46254	TTA		0.418	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		4	112	0	0	0	1	0	4	112				
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(973-975)agT>agA		carboxypeptidase B2 (plasma)							163.0	157.0	159.0					13																	46632338		2203	4300	6503	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632338A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.975T>A	13.37:g.46632338A>T	ENSP00000181383:p.Ser325Arg					CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	p.S325R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	991	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	325				Cleavage; by thrombin.	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.975T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	7.261	0.605207	0.14002	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11821	2.74;2.74	5.86	5.02	0.67125	Peptidase M14, carboxypeptidase A (2);	0.353337	0.40144	N	0.001172	T	0.09512	0.0234	N	0.25485	0.75	0.35046	D	0.760221	B;B	0.26708	0.157;0.149	B;B	0.22880	0.038;0.042	T	0.24119	-1.0169	10	0.27785	T	0.31	.	10.0135	0.42001	0.0723:0.1365:0.7911:0.0	.	288;325	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	R	325;288	ENSP00000181383:S325R;ENSP00000400714:S288R	ENSP00000181383:S325R	S	-	3	2	CPB2	45530339	0.017000	0.18338	0.998000	0.56505	0.183000	0.23260	0.024000	0.13555	1.487000	0.48415	-0.146000	0.13790	AGT		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		9	321	0	0	0	1	0	9	321				
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:53644453C>A	ENST00000334197.7	-	5	1696	c.1628G>T	c.(1627-1629)tGt>tTt	p.C543F	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.C544F|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1630-1632)tGt>tTt		zinc finger protein 347							154.0	150.0	152.0					19																	53644453		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644453C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1628G>T	19.37:g.53644453C>A	ENSP00000334146:p.Cys543Phe					ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543F|ZNF347_ENST00000601804.1_Intron	p.C544F	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2057	-			543					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1631G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991879	0.54041	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85088	-1.94;-1.94	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94391	0.8196	H	0.97023	3.925	0.40464	D	0.98027	D;D	0.89917	0.998;1.0	P;D	0.76071	0.799;0.987	D	0.96051	0.9031	9	0.87932	D	0	.	13.2379	0.59979	0.0:1.0:0.0:0.0	.	544;543	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	543;544	ENSP00000334146:C543F;ENSP00000405218:C544F	ENSP00000334146:C543F	C	-	2	0	ZNF347	58336265	0.995000	0.38212	0.006000	0.13384	0.018000	0.09664	3.807000	0.55591	1.700000	0.51204	0.655000	0.94253	TGT		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		145	253	1	0	3.29649e-51	1	3.97518e-51	145	253				
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein						calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCCTGAAAACTAAAGTAAAAG	0.453																																						ENST00000262713.2																			0											c.e4-2		ajuba LIM protein							139.0	148.0	145.0					14																	23445729		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445729T>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1177-2A>T	14.37:g.23445729T>A						AJUBA_ENST00000361265.4_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Splice_Site		NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			4	1552	-								A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589107	0.66105	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6896	0.62537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JUB	22515569	1.000000	0.71417	0.925000	0.36789	0.783000	0.44284	7.311000	0.78958	2.126000	0.65437	0.482000	0.46254	.		0.453	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Intron	9	321	0	0	0	1	0	9	321				
DOCK4	9732	broad.mit.edu	37	7	111580247	111580247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:111580247G>A	ENST00000437633.1	-	11	1151	c.895C>T	c.(895-897)Cga>Tga	p.R299*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.R299*|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	299					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCAAAGGGTCGTCGGTACTGG	0.443																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(895-897)Cga>Tga		dedicator of cytokinesis 4							189.0	196.0	194.0					7																	111580247		1972	4143	6115	SO:0001587	stop_gained	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111580247G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.895C>T	7.37:g.111580247G>A	ENSP00000404179:p.Arg299*					DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R299*	p.R299*			Q8N1I0	DOCK4_HUMAN			11	1167	-		Acute lymphoblastic leukemia(1;0.0441)	299					O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	c.895C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464867	0.97590	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.	.	.	6.06	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9257	0.52819	0.0:0.1107:0.4317:0.4576	.	.	.	.	X	287;299;299;287;298	.	ENSP00000345432:R287X	R	-	1	2	DOCK4	111367483	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	2.915000	0.48805	0.100000	0.17581	0.655000	0.94253	CGA		0.443	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	774	0	0	0	1	0	6	774				
DPEP2	64174	broad.mit.edu	37	16	68021768	68021768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:68021768C>A	ENST00000572888.1	-	9	1843	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DPEP2_ENST00000412757.2_Missense_Mutation_p.R398I|DPEP2_ENST00000393847.1_Missense_Mutation_p.R398I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	398					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TTCCACTTGTCTGAAGACCCG	0.567																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1192-1194)aGa>aTa		dipeptidase 2							124.0	126.0	125.0					16																	68021768		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021768C>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1193G>T	16.37:g.68021768C>A	ENSP00000458977:p.Arg398Ile					DPEP2_ENST00000572888.1_Missense_Mutation_p.R398I|DPEP2_ENST00000393847.1_Missense_Mutation_p.R398I	p.R398I			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	11	1858	-		Ovarian(137;0.192)	398					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.1193G>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072790	0.36566	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.26067	1.76;1.76	5.47	2.11	0.27256	.	0.973377	0.08495	N	0.937302	T	0.50582	0.1624	H	0.94306	3.52	0.09310	N	0.999999	B;B	0.25850	0.136;0.112	B;B	0.41764	0.366;0.251	T	0.54268	-0.8319	10	0.72032	D	0.01	4.8258	7.581	0.27965	0.0:0.6582:0.0:0.3418	.	398;311	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	I	398;398;311	ENSP00000377430:R398I;ENSP00000412549:R398I	ENSP00000314702:R311I	R	-	2	0	DPEP2	66579269	0.000000	0.05858	0.002000	0.10522	0.522000	0.34438	0.149000	0.16243	0.687000	0.31509	0.563000	0.77884	AGA		0.567	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		18	747	1	0	5.35267e-07	1	5.93133e-07	18	747				
UQCRFS1	7386	broad.mit.edu	37	19	29698751	29698751	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:29698751G>A	ENST00000304863.4	-	2	951	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	177					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GTTCTATGACGCACAAACAGG	0.453																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(529-531)Cgt>Tgt		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							115.0	121.0	119.0					19																	29698751		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698751G>A	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.529C>T	19.37:g.29698751G>A	ENSP00000306397:p.Arg177Cys						p.R177C	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	Lung(7;0.092)		2	951	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		177					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.529C>T	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720384	0.68959	.	.	ENSG00000169021	ENST00000304863	T	0.51071	0.72	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.093553	0.85682	D	0.000000	T	0.79736	0.4497	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.86812	0.1999	10	0.87932	D	0	.	18.2067	0.89857	0.0:0.0:1.0:0.0	.	177	P47985	UCRI_HUMAN	C	177	ENSP00000306397:R177C	ENSP00000306397:R177C	R	-	1	0	UQCRFS1	34390591	1.000000	0.71417	0.989000	0.46669	0.523000	0.34469	6.388000	0.73195	2.540000	0.85666	0.462000	0.41574	CGT		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		5	424	0	0	0	1	0	5	424				
DRD5	1816	broad.mit.edu	37	4	9784785	9784785	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:9784785T>G	ENST00000304374.2	+	1	1528	c.1132T>G	c.(1132-1134)Ttc>Gtc	p.F378V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	378					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)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.F378V(4)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGCAGCCACTTCTGCTCCCG	0.562																																						ENST00000304374.2																			4	Substitution - Missense(4)	p.F378V(4)	skin(2)|NS(1)|endometrium(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1132-1134)Ttc>Gtc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						63.0	55.0	57.0					4																	9784785		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784785T>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1132T>G	4.37:g.9784785T>G	ENSP00000306129:p.Phe378Val						p.F378V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1528	+			378					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1132T>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	t	1.422	-0.572511	0.03882	.	.	ENSG00000169676	ENST00000304374	T	0.36878	1.23	4.73	-0.492	0.12041	.	1.972870	0.02341	N	0.074845	T	0.21103	0.0508	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10109	-1.0644	10	0.16420	T	0.52	.	4.5978	0.12338	0.0:0.3044:0.1738:0.5218	.	378	P21918	DRD5_HUMAN	V	378	ENSP00000306129:F378V	ENSP00000306129:F378V	F	+	1	0	DRD5	9393883	0.067000	0.21026	0.022000	0.16811	0.197000	0.23852	0.558000	0.23469	-0.022000	0.13986	-2.216000	0.00297	TTC		0.562	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	81	0	0	0	1	0	3	81				
UTRN	7402	broad.mit.edu	37	6	144780343	144780343	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:144780343A>G	ENST00000367545.3	+	20	2560	c.2560A>G	c.(2560-2562)Aaa>Gaa	p.K854E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	854	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTTCACCCCAAAATTGAAAT	0.502																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2560-2562)Aaa>Gaa		utrophin							71.0	66.0	68.0					6																	144780343		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780343A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2560A>G	6.37:g.144780343A>G	ENSP00000356515:p.Lys854Glu						p.K854E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	20	2560	+		Ovarian(120;0.218)	854			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2560A>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	9.109	1.006103	0.19199	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.34859	1.34	5.44	4.25	0.50352	.	0.867765	0.09920	N	0.738635	T	0.09949	0.0244	N	0.14661	0.345	0.38034	D	0.935269	B	0.21309	0.054	B	0.18263	0.021	T	0.12344	-1.0551	10	0.17832	T	0.49	.	10.7699	0.46316	0.6118:0.3882:0.0:0.0	.	854	P46939	UTRO_HUMAN	E	854	ENSP00000356515:K854E	ENSP00000356499:K854E	K	+	1	0	UTRN	144822036	0.010000	0.17322	0.069000	0.20011	0.090000	0.18270	1.390000	0.34464	2.197000	0.70478	0.528000	0.53228	AAA		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			18	35	0	0	0	1	0	18	35				
CCDC112	153733	broad.mit.edu	37	5	114607212	114607212	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:114607212G>T	ENST00000512261.1	-	8	1197	c.781C>A	c.(781-783)Caa>Aaa	p.Q261K	CCDC112_ENST00000395557.4_Missense_Mutation_p.Q261K|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q344K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	261										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ttttgcttttgattatcctct	0.338																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1030-1032)Caa>Aaa		coiled-coil domain containing 112							157.0	145.0	149.0					5																	114607212		2201	4300	6501	SO:0001583	missense	153733							g.chr5:114607212G>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.781C>A	5.37:g.114607212G>T	ENSP00000423712:p.Gln261Lys					CCDC112_ENST00000512261.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q261K|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q261K	p.Q344K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1317	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	261					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1030C>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259162	0.39896	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.22945	1.93;2.28;2.26;2.28	6.03	5.14	0.70334	.	0.453195	0.25971	N	0.027125	T	0.28234	0.0697	L	0.56769	1.78	0.25198	N	0.990077	B;B;B	0.31548	0.328;0.328;0.328	B;B;B	0.34242	0.178;0.178;0.178	T	0.20907	-1.0261	10	0.11485	T	0.65	-3.3333	16.8498	0.85991	0.0:0.1286:0.8714:0.0	.	261;344;261	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	344;261;261;261	ENSP00000368931:Q344K;ENSP00000423712:Q261K;ENSP00000424876:Q261K;ENSP00000378925:Q261K	ENSP00000368931:Q344K	Q	-	1	0	CCDC112	114635111	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.145000	0.64839	1.518000	0.48934	0.655000	0.94253	CAA		0.338	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		4	76	1	0	2.56e-06	1	2.81982e-06	4	76				
TCF12	6938	broad.mit.edu	37	15	57355946	57355946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:57355946A>T	ENST00000267811.5	+	4	452		c.e4-1		TCF12_ENST00000452095.2_Intron|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTCTCTTTTTAGGTATTGATG	0.363			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e4-1		transcription factor 12							118.0	121.0	120.0					15																	57355946		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57355946A>T	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.149-1A>T	15.37:g.57355946A>T						TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Intron		NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	4	452	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37		CCDS10159.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.877044	0.51801	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000333725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9021	0.63812	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55143238	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	5.768000	0.68858	2.213000	0.71641	0.477000	0.44152	.		0.363	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	7	167	0	0	0	1	0	7	167				
STARD7	56910	broad.mit.edu	37	2	96861119	96861119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:96861119C>T	ENST00000337288.5	-	2	842	c.459G>A	c.(457-459)tgG>tgA	p.W153*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	153	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TTGGGCGCCGCCACAGCTTAA	0.498																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(457-459)tgG>tgA		StAR-related lipid transfer (START) domain containing 7							112.0	87.0	95.0					2																	96861119		2203	4300	6503	SO:0001587	stop_gained	56910					mitochondrion		g.chr2:96861119C>T	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.459G>A	2.37:g.96861119C>T	ENSP00000338030:p.Trp153*					STARD7_ENST00000462501.1_5'UTR	p.W153*	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN			2	842	-			153			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Nonsense_Mutation	SNP	ENST00000337288.5	37	c.459G>A	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	39	7.870970	0.98537	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4484	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	153;52	.	ENSP00000338030:W153X	W	-	3	0	STARD7	96224846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.206000	0.72154	2.885000	0.99019	0.655000	0.94253	TGG		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			4	24	0	0	0	1	0	4	24				
TTN	7273	broad.mit.edu	37	2	179398587	179398587	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:179398587C>T	ENST00000591111.1	-	308	98056	c.97832G>A	c.(97831-97833)aGa>aAa	p.R32611K	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34252K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25379K|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31684K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25312K|TTN_ENST00000460472.2_Missense_Mutation_p.R25187K|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32611					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGAGTCTCATTGTGTC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(102754-102756)aGa>aAa		titin							79.0	74.0	75.0					2																	179398587		1889	4103	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398587C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97832G>A	2.37:g.179398587C>T	ENSP00000465570:p.Arg32611Lys					TTN_ENST00000342175.6_Missense_Mutation_p.R25379K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25312K|TTN_ENST00000342992.6_Missense_Mutation_p.R31684K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32611K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25187K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA	p.R34252K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102979	-			32611					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.102755G>A		.	.	.	.	.	.	.	.	.	.	C	12.21	1.869417	0.32977	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.21;0.2;0.19	5.6	5.6	0.85130	Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45034	0.1322	N	0.08118	0	0.42305	D	0.992194	B;B;B;B	0.32071	0.214;0.214;0.214;0.355	B;B;B;B	0.24974	0.031;0.031;0.031;0.057	T	0.52245	-0.8601	9	0.87932	D	0	.	19.2083	0.93744	0.0:1.0:0.0:0.0	.	25187;25312;25379;32611	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31684;25187;25379;25312;25184	ENSP00000343764:R31684K;ENSP00000434586:R25187K;ENSP00000340554:R25379K;ENSP00000352154:R25312K	ENSP00000340554:R25379K	R	-	2	0	TTN	179106833	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.815000	0.48018	2.641000	0.89580	0.491000	0.48974	AGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	146	0	0	0	1	0	8	146				
HFM1	164045	broad.mit.edu	37	1	91818686	91818686	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:91818686A>G	ENST00000370425.3	-	15	1851	c.1753T>C	c.(1753-1755)Tat>Cat	p.Y585H	HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H|HFM1_ENST00000462405.1_5'Flank|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	585	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCATGATGATAAGCAGCACCA	0.328																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1753-1755)Tat>Cat		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							90.0	82.0	85.0					1																	91818686		1821	4078	5899	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818686A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1753T>C	1.37:g.91818686A>G	ENSP00000359454:p.Tyr585His					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H	p.Y585H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1851	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	585			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1753T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395686	0.83011	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.57273	0.41;0.41	5.93	5.93	0.95920	Helicase, C-terminal (3);	0.000000	0.38720	U	0.001583	T	0.63522	0.2518	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.66520	-0.5903	10	0.59425	D	0.04	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	264;585	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	585;264;269;618	ENSP00000359454:Y585H;ENSP00000359453:Y264H	ENSP00000359450:Y269H	Y	-	1	0	HFM1	91591274	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.877000	0.92386	2.263000	0.75096	0.533000	0.62120	TAT		0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		12	40	0	0	0	1	0	12	40				
CCDC181	57821	broad.mit.edu	37	1	169391451	169391451	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:169391451T>C	ENST00000367806.3	-	3	370	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	CCDC181_ENST00000545005.1_Missense_Mutation_p.Q73R|CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	73						nucleus (GO:0005634)											GACCTCATCCTGCAAAGATTT	0.398																																						ENST00000545005.1																			0											c.(217-219)cAg>cGg		coiled-coil domain containing 181							95.0	86.0	89.0					1																	169391451		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391451T>C	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.218A>G	1.37:g.169391451T>C	ENSP00000356780:p.Gln73Arg					CCDC181_ENST00000367806.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000367805.3_Missense_Mutation_p.Q73R|CCDC181_ENST00000491570.1_5'UTR	p.Q73R							4	725	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.218A>G		.	.	.	.	.	.	.	.	.	.	T	3.438	-0.114660	0.06881	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.27	4.14	0.48551	.	0.498747	0.22337	N	0.061391	T	0.05318	0.0141	N	0.22421	0.69	0.22552	N	0.998992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16041	-1.0416	9	0.54805	T	0.06	-6.1116	7.8629	0.29520	0.0:0.1619:0.0:0.8381	.	73;73;73	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	R	73	ENSP00000356779:Q73R;ENSP00000356780:Q73R;ENSP00000442297:Q73R;ENSP00000411000:Q73R	ENSP00000356779:Q73R	Q	-	2	0	C1orf114	167658075	0.989000	0.36119	0.816000	0.32577	0.006000	0.05464	1.349000	0.33998	0.843000	0.35070	0.460000	0.39030	CAG		0.398	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		3	214	0	0	0	1	0	3	214				
HRC	3270	broad.mit.edu	37	19	49657184	49657184	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:49657184C>T	ENST00000252825.4	-	1	1497	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	HRC_ENST00000595625.1_Silent_p.Q437Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	437					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCTGGGGGCCTGGTGGCCAA	0.552																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1309-1311)caG>caA		histidine rich calcium binding protein							98.0	91.0	93.0					19																	49657184		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657184C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1311G>A	19.37:g.49657184C>T						HRC_ENST00000595625.1_Silent_p.Q437Q	p.Q437Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1497	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	437					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1311G>A	CCDS12759.1																																																																																				0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		5	211	0	0	0	1	0	5	211				
TMPRSS12	283471	broad.mit.edu	37	12	51281283	51281283	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:51281283T>A	ENST00000398458.3	+	5	1066	c.1034T>A	c.(1033-1035)cTa>cAa	p.L345Q	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	345						integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GTCATCTTACTAGCAACAACA	0.338																																						ENST00000398458.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(1033-1035)cTa>cAa		transmembrane (C-terminal) protease, serine 12							117.0	119.0	118.0					12																	51281283		1834	4080	5914	SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51281283T>A	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.1034T>A	12.37:g.51281283T>A	ENSP00000381476:p.Leu345Gln					TMPRSS12_ENST00000551456.1_3'UTR	p.L345Q	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN			5	1066	+			345					B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.1034T>A	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.048617	0.55110	.	.	ENSG00000186452	ENST00000398458	D	0.90261	-2.64	4.74	4.74	0.60224	.	0.791326	0.10714	N	0.642534	D	0.89602	0.6762	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81134	-0.1071	10	0.87932	D	0	-2.3273	10.5482	0.45072	0.0:0.0:0.0:1.0	.	345	Q86WS5	TMPSC_HUMAN	Q	345	ENSP00000381476:L345Q	ENSP00000381476:L345Q	L	+	2	0	TMPRSS12	49567550	0.438000	0.25602	0.015000	0.15790	0.149000	0.21700	1.314000	0.33597	1.983000	0.57843	0.377000	0.23210	CTA		0.338	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		5	145	0	0	0	1	0	5	145				
OSBPL1A	114876	broad.mit.edu	37	18	21739723	21739723	+	IGR	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:21739723C>A	ENST00000319481.3	-	0	4195				CABYR_ENST00000415309.2_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Missense_Mutation_p.P179T|CABYR_ENST00000399496.3_Missense_Mutation_p.P277T|CABYR_ENST00000399499.1_Missense_Mutation_p.P277T|CABYR_ENST00000581397.1_Missense_Mutation_p.P277T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GAAACCTCTTCCTGGACATGC	0.458																																						ENST00000399496.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(829-831)Cct>Act		calcium binding tyrosine-(Y)-phosphorylation regulated							89.0	89.0	89.0					18																	21739723		2203	4300	6503	SO:0001628	intergenic_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21739723C>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739723C>A						CABYR_ENST00000581397.1_Missense_Mutation_p.P277T|CABYR_ENST00000327201.6_Missense_Mutation_p.P179T|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.P277T|RP11-799B12.4_ENST00000583267.1_lincRNA	p.P277T	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN			5	994	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		0					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.829C>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245847	0.59103	.	.	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.62105	0.05;0.05	4.85	4.85	0.62838	.	.	.	.	.	T	0.67552	0.2905	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.70842	-0.4762	9	0.87932	D	0	.	11.6838	0.51474	0.0:0.9145:0.0:0.0855	.	277	O75952-3	.	T	277;179;277	ENSP00000382419:P277T;ENSP00000382421:P277T	ENSP00000317095:P179T	P	+	1	0	CABYR	19993721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.595000	0.36708	2.227000	0.72691	0.563000	0.77884	CCT		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		32	484	1	0	0.000279167	1	0.000297724	32	484				
ACSS2	55902	broad.mit.edu	37	20	33513922	33513922	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:33513922A>G	ENST00000360596.2	+	16	1952	c.1741A>G	c.(1741-1743)Aca>Gca	p.T581A	ACSS2_ENST00000336325.4_Missense_Mutation_p.T531A|ACSS2_ENST00000253382.5_Missense_Mutation_p.T594A|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	581					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTGCTGAGTACAGCAGAGGT	0.577																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1741-1743)Aca>Gca		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						117.0	96.0	103.0					20																	33513922		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33513922A>G	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1741A>G	20.37:g.33513922A>G	ENSP00000353804:p.Thr581Ala					ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.T594A|ACSS2_ENST00000336325.4_Missense_Mutation_p.T531A	p.T581A	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			16	1952	+			581					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1741A>G	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210072	0.79240	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.50548	0.74;2.82;2.82	4.99	4.99	0.66335	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.971	T	0.78427	-0.2208	10	0.87932	D	0	-13.687	14.9129	0.70773	1.0:0.0:0.0:0.0	.	594;581	Q5QPH3;Q9NR19	.;ACSA_HUMAN	A	531;581;579;289;594	ENSP00000337190:T531A;ENSP00000353804:T581A;ENSP00000253382:T594A	ENSP00000253382:T594A	T	+	1	0	ACSS2	32977583	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.071000	0.93980	2.119000	0.64992	0.456000	0.33151	ACA		0.577	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		4	613	0	0	0	1	0	4	613				
HSP90AB1	3326	broad.mit.edu	37	6	44218220	44218220	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:44218220G>A	ENST00000371554.1	+	6	1055	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	281					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGATCAGGAAGAACTAAACAA	0.423																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(841-843)Gaa>Aaa		heat shock protein 90kDa alpha (cytosolic), class B member 1							80.0	77.0	78.0					6																	44218220		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44218220G>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.841G>A	6.37:g.44218220G>A	ENSP00000360609:p.Glu281Lys					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K	p.E281K			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1055	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		281					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.841G>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072379	0.76415	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.10005	2.92;2.92;2.92	4.41	4.41	0.53225	ATPase-like, ATP-binding domain (1);	0.000000	0.64402	U	0.000002	T	0.16599	0.0399	M	0.78344	2.41	0.80722	D	1	P;P;B	0.50369	0.934;0.616;0.359	P;B;B	0.50049	0.629;0.444;0.261	T	0.03060	-1.1077	10	0.72032	D	0.01	-17.0994	17.0182	0.86425	0.0:0.0:1.0:0.0	.	243;271;281	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	K	281	ENSP00000360709:E281K;ENSP00000325875:E281K;ENSP00000360609:E281K	ENSP00000325875:E281K	E	+	1	0	HSP90AB1	44326198	1.000000	0.71417	0.881000	0.34555	0.748000	0.42578	9.773000	0.98989	2.018000	0.59344	0.460000	0.39030	GAA		0.423	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		52	103	0	0	0	1	0	52	103				
SMC3	9126	broad.mit.edu	37	10	112335137	112335137	+	Silent	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:112335137A>G	ENST00000361804.4	+	4	300	c.174A>G	c.(172-174)ccA>ccG	p.P58P	snoU13_ENST00000458966.1_RNA|SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	58					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATCTTCGTCCAGAACAGCGGT	0.299																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(172-174)ccA>ccG		structural maintenance of chromosomes 3							138.0	133.0	135.0					10																	112335137		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112335137A>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.174A>G	10.37:g.112335137A>G						SMC3_ENST00000462899.1_3'UTR	p.P58P	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	4	300	+		Breast(234;0.0848)|Lung NSC(174;0.238)	58					A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.174A>G	CCDS31285.1																																																																																				0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		8	14	0	0	0	1	0	8	14				
STAT2	6773	broad.mit.edu	37	12	56742758	56742758	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56742758C>T	ENST00000314128.4	-	17	1549	c.1526G>A	c.(1525-1527)gGc>gAc	p.G509D	STAT2_ENST00000557235.1_Missense_Mutation_p.G505D|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	509					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GAGGCCTCGGCCAACATAGGA	0.562																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1525-1527)gGc>gAc		signal transducer and activator of transcription 2, 113kDa							74.0	74.0	74.0					12																	56742758		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742758C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1526G>A	12.37:g.56742758C>T	ENSP00000315768:p.Gly509Asp					STAT2_ENST00000557235.1_Missense_Mutation_p.G505D|STAT2_ENST00000556539.1_5'UTR	p.G509D			P52630	STAT2_HUMAN			17	1549	-			509					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1526G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096317	0.36952	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337	D;D	0.88201	-2.35;-2.35	4.89	-0.229	0.13094	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.697586	0.14051	N	0.344775	D	0.89684	0.6786	M	0.80616	2.505	0.09310	N	1	B;P	0.40000	0.162;0.698	B;P	0.45276	0.135;0.475	T	0.82619	-0.0368	10	0.62326	D	0.03	-1.7748	10.0929	0.42458	0.0:0.5505:0.0:0.4495	.	505;509	G3V2M6;P52630	.;STAT2_HUMAN	D	509;505;311	ENSP00000315768:G509D;ENSP00000450751:G505D	ENSP00000315768:G509D	G	-	2	0	STAT2	55029025	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.102000	0.10956	-0.145000	0.11294	0.563000	0.77884	GGC		0.562	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		5	369	0	0	0	1	0	5	369				
IPO11	51194	broad.mit.edu	37	5	61846192	61846192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:61846192A>T	ENST00000325324.6	+	25	2419		c.e25-1		IPO11_ENST00000409296.3_Splice_Site	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11						ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCTGGTTTTTAGGTTGTGGAA	0.348																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.e25-1		importin 11							124.0	119.0	121.0					5																	61846192		2203	4299	6502	SO:0001630	splice_region_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61846192A>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2251-1A>T	5.37:g.61846192A>T						IPO11_ENST00000409296.3_Splice_Site		NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	25	2419	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)						A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Splice_Site	SNP	ENST00000325324.6	37		CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273101	0.80580	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553;ENST00000511713	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1999	0.73126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO11	61881949	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.268000	0.89876	2.088000	0.63022	0.528000	0.53228	.		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	Intron	4	69	0	0	0	1	0	4	69				
MAP4	4134	broad.mit.edu	37	3	48019414	48019414	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:48019414G>A	ENST00000360240.6	-	3	751	c.233C>T	c.(232-234)tCt>tTt	p.S78F	MAP4_ENST00000439356.1_Missense_Mutation_p.S78F|MAP4_ENST00000434267.1_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F|MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000426837.2_Missense_Mutation_p.S95F	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	78					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGTTTAGAAGATGGAGTATC	0.408																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(283-285)tCt>tTt		microtubule-associated protein 4							208.0	186.0	193.0					3																	48019414		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:48019414G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.233C>T	3.37:g.48019414G>A	ENSP00000353375:p.Ser78Phe					MAP4_ENST00000360240.6_Missense_Mutation_p.S78F|MAP4_ENST00000434267.1_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F|MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000439356.1_Missense_Mutation_p.S78F	p.S95F			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	4	371	-			78					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.284C>T	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.003567|4.003567	0.74932|0.74932	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356	.|T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;1.23;1.23	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.995;0.997;0.996	.|P;D;P	.|0.66847	.|0.742;0.947;0.862	T|T	0.65038|0.65038	-0.6265|-0.6265	5|9	.|0.87932	.|D	.|0	-2.3186|-2.3186	13.2732|13.2732	0.60172|0.60172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;78;78	.|Q86V26;P27816-6;P27816	.|.;.;MAP4_HUMAN	F|F	85|78;78;95;78;78;78	.|ENSP00000373243:S78F;ENSP00000379083:S78F;ENSP00000407602:S95F;ENSP00000353375:S78F;ENSP00000402767:S78F;ENSP00000397414:S78F	.|ENSP00000353375:S78F	L|S	-|-	1|2	0|0	MAP4|MAP4	47994418|47994418	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.879000|0.879000	0.50718|0.50718	5.255000|5.255000	0.65462|0.65462	2.587000|2.587000	0.87381|0.87381	0.460000|0.460000	0.39030|0.39030	CTT|TCT		0.408	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		102	125	0	0	0	1	0	102	125				
VWF	7450	broad.mit.edu	37	12	6220099	6220099	+	Missense_Mutation	SNP	C	C	T	rs140044866	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:6220099C>T	ENST00000261405.5	-	4	510	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	VWF_ENST00000572068.1_Missense_Mutation_p.V123M	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	86	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCAAGATACACGGAGAGGCTC	0.408																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(256-258)Gtg>Atg		von Willebrand factor	Antihemophilic Factor(DB00025)	C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	142.0	136.0	138.0		256	5.2	1.0	12	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense	VWF	NM_000552.3	21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	86/2814	6220099	3,13003	2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6220099C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.256G>A	12.37:g.6220099C>T	ENSP00000261405:p.Val86Met					VWF_ENST00000572068.1_Missense_Mutation_p.V123M	p.V86M	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			4	510	-			86			VWFD 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.256G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158206	0.57368	4.54E-4	1.16E-4	ENSG00000110799	ENST00000261405	T	0.65732	-0.17	5.19	5.19	0.71726	von Willebrand factor, type D domain (3);	0.000000	0.33457	N	0.004892	T	0.79776	0.4504	M	0.86740	2.835	0.42692	D	0.993585	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.99;0.997	T	0.82368	-0.0492	10	0.72032	D	0.01	.	10.3038	0.43667	0.1497:0.7055:0.1448:0.0	.	86;123;86	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	M	86	ENSP00000261405:V86M	ENSP00000261405:V86M	V	-	1	0	VWF	6090360	0.310000	0.24527	0.998000	0.56505	0.843000	0.47879	0.244000	0.18124	2.706000	0.92434	0.561000	0.74099	GTG		0.408	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	398	0	0	0	1	0	4	398				
WIPI2	26100	broad.mit.edu	37	7	5270558	5270558	+	Missense_Mutation	SNP	A	A	G	rs144773383		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:5270558A>G	ENST00000288828.4	+	13	1577	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V|WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V|WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	449					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCACCCGCCCATGATTCTTCG	0.597																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(1345-1347)Atg>Gtg		WD repeat domain, phosphoinositide interacting 2							67.0	56.0	60.0					7																	5270558		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5270558A>G		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1345A>G	7.37:g.5270558A>G	ENSP00000288828:p.Met449Val					WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V|WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V|WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V	p.M449V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	13	1577	+		Ovarian(82;0.0175)	449					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.1345A>G	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763976	0.15914	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.39229	1.39;1.4;1.39;1.41;1.09	5.95	5.95	0.96441	.	0.050364	0.85682	D	0.000000	T	0.24392	0.0591	N	0.13098	0.295	0.41443	D	0.987937	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.11767	-1.0574	10	0.02654	T	1	-47.6617	14.9948	0.71421	1.0:0.0:0.0:0.0	.	432;420;431;438;449	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	V	449;431;438;420;379;432	ENSP00000288828:M449V;ENSP00000384945:M431V;ENSP00000385297:M438V;ENSP00000371821:M420V;ENSP00000429654:M379V	ENSP00000288828:M449V	M	+	1	0	WIPI2	5237084	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.046000	0.64226	2.279000	0.76181	0.533000	0.62120	ATG		0.597	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		35	82	0	0	0	1	0	35	82				
PIK3C2G	5288	broad.mit.edu	37	12	18435372	18435372	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:18435372T>A	ENST00000266497.5	+	1	395	c.357T>A	c.(355-357)aaT>aaA	p.N119K	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.N119K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	119					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AACCTCAAAATACGAATAAAG	0.403																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(355-357)aaT>aaA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							74.0	74.0	74.0					12																	18435372		1836	4082	5918	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435372T>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.357T>A	12.37:g.18435372T>A	ENSP00000266497:p.Asn119Lys					PIK3C2G_ENST00000535651.1_Missense_Mutation_p.N119K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.N119K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.N119K|RERGL_ENST00000541632.1_Intron	p.N119K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			2	473	+		Hepatocellular(102;0.194)	119					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.357T>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	7.965	0.747836	0.15710	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.59772	1.58;0.24;0.24;0.24	4.7	-4.54	0.03452	.	2.421410	0.02130	N	0.056283	T	0.36771	0.0979	L	0.27053	0.805	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.18561	0.022;0.01	T	0.15723	-1.0427	10	0.09590	T	0.72	0.6115	6.0044	0.19539	0.0:0.2486:0.267:0.4844	.	119;119	F5H369;O75747	.;P3C2G_HUMAN	K	119	ENSP00000443850:N119K;ENSP00000404845:N119K;ENSP00000266497:N119K;ENSP00000445381:N119K	ENSP00000266497:N119K	N	+	3	2	PIK3C2G	18326639	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.310000	0.08135	-0.873000	0.04032	0.482000	0.46254	AAT		0.403	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		5	178	0	0	0	1	0	5	178				
SEPT12	124404	broad.mit.edu	37	16	4833698	4833698	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4833698G>T	ENST00000268231.8	-	6	845	c.582C>A	c.(580-582)gcC>gcA	p.A194A	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Silent_p.A148A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	194	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGTCGGCCCTGGCAATCACGG	0.687																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(580-582)gcC>gcA		septin 12							45.0	49.0	47.0					16																	4833698		2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833698G>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.582C>A	16.37:g.4833698G>T						SEPT12_ENST00000396693.5_Silent_p.A148A	p.A194A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			6	845	-			194					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.582C>A	CCDS10522.1																																																																																				0.687	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		6	119	1	0	0.00621372	1	0.00644062	6	119				
ZNF781	163115	broad.mit.edu	37	19	38160704	38160704	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:38160704G>A	ENST00000590008.1	-	5	1198	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.P116S|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTTATAAGGTTTCTCACCA	0.378																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(346-348)Cct>Tct		zinc finger protein 781							124.0	122.0	123.0					19																	38160704		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160704G>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.346C>T	19.37:g.38160704G>A	ENSP00000466370:p.Pro116Ser					ZNF781_ENST00000590008.1_Missense_Mutation_p.P116S|ZFP30_ENST00000586732.1_Intron	p.P116S	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1094	-			116					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.346C>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025858	0.54683	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.28454	1.61	2.23	1.16	0.20824	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46054	0.1373	L	0.55481	1.735	0.23893	N	0.996545	D	0.89917	1.0	D	0.85130	0.997	T	0.15435	-1.0437	9	0.72032	D	0.01	.	8.1914	0.31370	0.1489:0.0:0.8511:0.0	.	116	Q8N8C0	ZN781_HUMAN	S	116	ENSP00000351391:P116S	ENSP00000351391:P116S	P	-	1	0	ZNF781	42852544	1.000000	0.71417	0.020000	0.16555	0.013000	0.08279	4.869000	0.63028	1.218000	0.43458	0.543000	0.68304	CCT		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		25	342	0	0	0	1	0	25	342				
RGPD8	727851	broad.mit.edu	37	2	113147073	113147073	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:113147073A>T	ENST00000302558.3	-	20	3640	c.3449T>A	c.(3448-3450)tTt>tAt	p.F1150Y	RGPD8_ENST00000409750.1_Missense_Mutation_p.F1010Y	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1150	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGTTTTAAATTTTGCTGC	0.453																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3448-3450)tTt>tAt		RANBP2-like and GRIP domain containing 8							11.0	10.0	11.0					2																	113147073		687	1575	2262	SO:0001583	missense	727851							g.chr2:113147073A>T	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3449T>A	2.37:g.113147073A>T	ENSP00000306637:p.Phe1150Tyr					RGPD8_ENST00000409750.1_Missense_Mutation_p.F1010Y	p.F1150Y	NM_001164463.1	NP_001157935.1					20	3640	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.3449T>A	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	11.57	1.676696	0.29783	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.56941	0.43;0.43	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.76062	0.3935	H	0.94925	3.6	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	T	0.78455	-0.2197	9	0.87932	D	0	-25.9267	8.205	0.31449	1.0:0.0:0.0:0.0	.	1150	O14715	RGPD8_HUMAN	Y	1150;1010	ENSP00000306637:F1150Y;ENSP00000386511:F1010Y	ENSP00000306637:F1150Y	F	-	2	0	RGPD8	112863544	1.000000	0.71417	0.999000	0.59377	0.563000	0.35712	9.020000	0.93667	1.068000	0.40764	0.128000	0.15822	TTT		0.453	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		5	161	0	0	0	1	0	5	161				
SF3B1	23451	broad.mit.edu	37	2	198265662	198265662	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:198265662T>A	ENST00000335508.6	-	18	2588		c.e18-2		SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAACTAACTAAAAAGAACA	0.338			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.e18-2		splicing factor 3b, subunit 1, 155kDa							49.0	49.0	49.0					2																	198265662		2201	4299	6500	SO:0001630	splice_region_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265662T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2497-2A>T	2.37:g.198265662T>A								NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2588	-								E9PCH3	Splice_Site	SNP	ENST00000335508.6	37		CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367229	0.82463	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SF3B1	197973907	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.936000	0.87665	2.326000	0.78906	0.533000	0.62120	.		0.338	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		Intron	6	42	0	0	0	1	0	6	42				
TNK1	8711	broad.mit.edu	37	17	7291835	7291835	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:7291835G>T	ENST00000576812.1	+	11	1972	c.1603G>T	c.(1603-1605)Ggc>Tgc	p.G535C	TNK1_ENST00000570896.1_Missense_Mutation_p.G530C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGGACCTCCAGGCCTGCCTCC	0.612																																						ENST00000570896.1																			0				central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16						c.(1588-1590)Ggc>Tgc		tyrosine kinase, non-receptor, 1							48.0	60.0	56.0					17																	7291835		2008	4166	6174	SO:0001583	missense	8711				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chr17:7291835G>T	U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1603G>T	17.37:g.7291835G>T	ENSP00000459799:p.Gly535Cys					TNK1_ENST00000576812.1_Missense_Mutation_p.G535C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C	p.G530C			Q13470	TNK1_HUMAN			12	2034	+		Prostate(122;0.157)	535			Pro-rich.			Missense_Mutation	SNP	ENST00000576812.1	37	c.1588G>T	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078313	0.36662	.	.	ENSG00000174292	ENST00000311668	T	0.75938	-0.98	4.18	3.21	0.36854	.	0.777035	0.11366	N	0.571361	T	0.64394	0.2594	N	0.08118	0	0.25261	N	0.989598	P;P	0.48407	0.91;0.855	P;B	0.50617	0.646;0.443	T	0.56805	-0.7918	10	0.59425	D	0.04	.	10.4025	0.44237	0.0975:0.0:0.9025:0.0	.	530;535	Q13470-2;Q13470	.;TNK1_HUMAN	C	530	ENSP00000312309:G530C	ENSP00000312309:G530C	G	+	1	0	TNK1	7232559	1.000000	0.71417	0.476000	0.27291	0.545000	0.35147	2.393000	0.44442	1.373000	0.46208	0.655000	0.94253	GGC		0.612	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985		25	33	1	0	3.7963e-18	1	4.39134e-18	25	33				
PHF12	57649	broad.mit.edu	37	17	27250942	27250942	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:27250942T>C	ENST00000332830.4	-	4	1510	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	PHF12_ENST00000582655.1_5'UTR|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.T234A|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A|RP11-20B24.5_ENST00000580782.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGTGCAGTGGTACAAGTCAGT	0.562																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(700-702)Acc>Gcc		PHD finger protein 12							52.0	49.0	50.0					17																	27250942		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27250942T>C	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.700A>G	17.37:g.27250942T>C	ENSP00000329933:p.Thr234Ala					PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.T234A|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A	p.T234A			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		4	1046	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		234			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.700A>G	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371357	0.82573	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94576	-3.44;-3.46;-3.46	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	L	0.53249	1.67	0.80722	D	1	P;P;D;D;P	0.67145	0.93;0.919;0.972;0.996;0.93	P;P;P;D;P	0.65140	0.676;0.699;0.69;0.932;0.676	D	0.93794	0.7095	10	0.17369	T	0.5	-9.5897	15.3307	0.74208	0.0:0.0:0.0:1.0	.	216;234;234;234;234	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	A	234	ENSP00000329933:T234A;ENSP00000368157:T234A;ENSP00000268756:T234A	ENSP00000268756:T234A	T	-	1	0	PHF12	24275068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.298000	0.77334	0.528000	0.53228	ACC		0.562	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		32	39	0	0	0	1	0	32	39				
GPR65	8477	broad.mit.edu	37	14	88477819	88477819	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:88477819G>A	ENST00000267549.3	+	2	1186	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	210					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTACCAAGCTGTGCGGCACAA	0.423																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(628-630)Gtg>Atg		G protein-coupled receptor 65							59.0	58.0	59.0					14																	88477819		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477819G>A	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.628G>A	14.37:g.88477819G>A	ENSP00000267549:p.Val210Met					RP11-300J18.2_ENST00000554433.1_RNA	p.V210M	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN			2	1186	+			210					O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.628G>A	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441428	0.83993	.	.	ENSG00000140030	ENST00000267549	T	0.40756	1.02	6.16	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.129596	0.34580	N	0.003849	T	0.67757	0.2927	M	0.84948	2.725	0.47276	D	0.999371	D	0.89917	1.0	D	0.79108	0.992	T	0.71748	-0.4499	10	0.87932	D	0	.	14.9931	0.71406	0.0674:0.0:0.9326:0.0	.	210	Q8IYL9	PSYR_HUMAN	M	210	ENSP00000267549:V210M	ENSP00000267549:V210M	V	+	1	0	GPR65	87547572	1.000000	0.71417	0.987000	0.45799	0.860000	0.49131	4.527000	0.60573	2.937000	0.99478	0.650000	0.86243	GTG		0.423	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			15	109	0	0	0	1	0	15	109				
KCNU1	157855	broad.mit.edu	37	8	36766970	36766970	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:36766970G>A	ENST00000399881.3	+	21	2285	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	750					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGAGCTGAAGGACATAGTGTT	0.463																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2248-2250)Gac>Aac		potassium channel, subfamily U, member 1							171.0	169.0	170.0					8																	36766970		1881	4102	5983	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766970G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2248G>A	8.37:g.36766970G>A	ENSP00000382770:p.Asp750Asn						p.D750N	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2285	+			750						Missense_Mutation	SNP	ENST00000399881.3	37	c.2248G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426375	0.62733	.	.	ENSG00000215262	ENST00000399881	T	0.42131	0.98	5.8	5.8	0.92144	.	0.263650	0.24742	U	0.035965	T	0.57961	0.2089	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.56343	0.796	T	0.57248	-0.7844	10	0.46703	T	0.11	-14.7559	15.181	0.72960	0.0:0.1406:0.8594:0.0	.	750	A8MYU2	KCNU1_HUMAN	N	750	ENSP00000382770:D750N	ENSP00000382770:D750N	D	+	1	0	KCNU1	36886128	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.381000	0.52455	2.745000	0.94114	0.655000	0.94253	GAC		0.463	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		41	494	0	0	0	1	0	41	494				
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(94-96)ttA>ttT		olfactory receptor, family 9, subfamily Q, member 1							209.0	198.0	202.0					11																	57947012		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947012A>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.96A>T	11.37:g.57947012A>T	ENSP00000334934:p.Leu32Phe						p.L32F	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	412	+		Breast(21;0.222)	32					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.96A>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422402	0.25639	.	.	ENSG00000186509	ENST00000335397	T	0.01804	4.63	4.75	-9.5	0.00584	.	0.000000	0.35555	N	0.003126	T	0.04815	0.0130	M	0.77820	2.39	0.18873	N	0.999987	D	0.71674	0.998	D	0.63113	0.911	T	0.18023	-1.0350	10	0.54805	T	0.06	-3.2934	7.7301	0.28781	0.1236:0.1588:0.5605:0.1571	.	32	Q8NGQ5	OR9Q1_HUMAN	F	32	ENSP00000334934:L32F	ENSP00000334934:L32F	L	+	3	2	OR9Q1	57703588	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-4.246000	0.00267	-3.550000	0.00142	-0.376000	0.06991	TTA		0.448	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		11	431	0	0	0	1	0	11	431				
FGF6	2251	broad.mit.edu	37	12	4543521	4543521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:4543521G>T	ENST00000228837.2	-	3	530	c.487C>A	c.(487-489)Ctc>Atc	p.L163I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	163					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|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)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTGGGCAGGAGGGTTTCTCTG	0.522																																						ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(487-489)Ctc>Atc		fibroblast growth factor 6							221.0	205.0	211.0					12																	4543521		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4543521G>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.487C>A	12.37:g.4543521G>T	ENSP00000228837:p.Leu163Ile						p.L163I	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		3	530	-			163					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.487C>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793444	0.31685	.	.	ENSG00000111241	ENST00000228837	D	0.81499	-1.5	4.99	4.08	0.47627	.	0.133667	0.50627	N	0.000115	T	0.72724	0.3496	L	0.49126	1.545	0.47862	D	0.999533	B	0.12630	0.006	B	0.28849	0.095	T	0.64351	-0.6428	10	0.29301	T	0.29	.	4.5892	0.12299	0.0871:0.1526:0.603:0.1573	.	163	P10767	FGF6_HUMAN	I	163	ENSP00000228837:L163I	ENSP00000228837:L163I	L	-	1	0	FGF6	4413782	0.952000	0.32445	1.000000	0.80357	0.990000	0.78478	0.765000	0.26546	1.038000	0.40049	0.655000	0.94253	CTC		0.522	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		4	485	1	0	1.23904e-05	1	1.35268e-05	4	485				
FLG2	388698	broad.mit.edu	37	1	152324633	152324633	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152324633T>C	ENST00000388718.5	-	3	5701	c.5629A>G	c.(5629-5631)Aga>Gga	p.R1877G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1877					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCAGATCTCCTTCTTCCA	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5629-5631)Aga>Gga		filaggrin family member 2							332.0	295.0	308.0					1																	152324633		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324633T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5629A>G	1.37:g.152324633T>C	ENSP00000373370:p.Arg1877Gly					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R1877G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5701	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1877					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5629A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	5.752	0.323163	0.10900	.	.	ENSG00000143520	ENST00000388718	T	0.03242	4.0	4.44	-4.94	0.03057	.	.	.	.	.	T	0.00210	0.0006	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46775	-0.9167	9	0.02654	T	1	6.3453	5.7249	0.18008	0.1748:0.2425:0.0:0.5827	.	1877	Q5D862	FILA2_HUMAN	G	1877	ENSP00000373370:R1877G	ENSP00000373370:R1877G	R	-	1	2	FLG2	150591257	.	.	0.000000	0.03702	0.008000	0.06430	.	.	-0.787000	0.04510	-0.494000	0.04653	AGA		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1219	0	0	0	1	0	8	1219				
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:22155346T>C	ENST00000397126.4	-	4	2638	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	830					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2488-2490)gaA>gaG		zinc finger protein 208							66.0	72.0	70.0					19																	22155346		2117	4255	6372	SO:0001819	synonymous_variant	7757							g.chr19:22155346T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2490A>G	19.37:g.22155346T>C						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.E830E	NM_007153.3	NP_009084.2					4	2638	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2490A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	97	0	0	0	1	0	3	97				
ANKRD20A8P	729171	broad.mit.edu	37	2	95497757	95497757	+	RNA	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:95497757C>G	ENST00000432432.2	-	0	1086					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTCACCTTCTCCTTGTCCATT	0.473																																						ENST00000432432.2																			0																																																			729171							g.chr2:95497757C>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95497757C>G								NR_040113.1						0	1086	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.473	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			159	197	0	0	0	1	0	159	197				
MRPL1	65008	broad.mit.edu	37	4	78873727	78873727	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:78873727T>A	ENST00000315567.8	+	9	1273	c.944T>A	c.(943-945)gTa>gAa	p.V315E		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	315					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CCTAAAGAAGTAAAAAATGAA	0.348																																						ENST00000315567.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						c.(943-945)gTa>gAa		mitochondrial ribosomal protein L1							129.0	124.0	126.0					4																	78873727		2203	4300	6503	SO:0001583	missense	65008						RNA binding	g.chr4:78873727T>A	AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.944T>A	4.37:g.78873727T>A	ENSP00000315017:p.Val315Glu						p.V315E	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN			9	1273	+			315					A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	c.944T>A	CCDS3583.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.014|0.014|0.014	-1.586097|-1.586097|-1.586097	0.00872|0.00872|0.00872	.|.|.	.|.|.	ENSG00000169288|ENSG00000169288|ENSG00000169288	ENST00000538314|ENST00000315567|ENST00000504901	.|T|.	.|0.30182|.	.|1.54|.	5.85|5.85|5.85	-3.37|-3.37|-3.37	0.04898|0.04898|0.04898	.|.|.	.|1.587550|.	.|0.03399|.	.|N|.	.|0.202996|.	.|T|.	.|0.16385|.	.|0.0394|.	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.22412|0.22412|0.22412	N|N|N	0.999121|0.999121|0.999121	.|B|.	.|0.02656|.	.|0.0|.	.|B|.	.|0.01281|.	.|0.0|.	.|T|.	.|0.25813|.	.|-1.0121|.	.|10|.	.|0.18276|.	.|T|.	.|0.48|.	.|-0.3753|-0.3753	0.415|0.415|0.415	0.00447|0.00447|0.00447	0.2614:0.1442:0.2413:0.353|0.2614:0.1442:0.2413:0.353|0.2614:0.1442:0.2413:0.353	.|.|.	.|315|.	.|Q9BYD6|.	.|RM01_HUMAN|.	.|E|K	-1|315|109	.|ENSP00000315017:V315E|.	.|ENSP00000315017:V315E|.	.|V|X	+|+|+	.|2|1	.|0|0	MRPL1|MRPL1|MRPL1	79092751|79092751|79092751	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.272000|0.272000|0.272000	0.24630|0.24630|0.24630	0.097000|0.097000|0.097000	0.18754|0.18754|0.18754	-1.134000|-1.134000|-1.134000	0.03228|0.03228|0.03228	-0.390000|-0.390000|-0.390000	0.07774|0.07774|0.07774	-0.299000|-0.299000|-0.299000	0.09455|0.09455|0.09455	.|GTA|TAA		0.348	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236		4	57	0	0	0	1	0	4	57				
PIGZ	80235	broad.mit.edu	37	3	196678778	196678778	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:196678778C>A	ENST00000412723.1	-	2	271	c.125G>T	c.(124-126)aGc>aTc	p.S42I	PIGZ_ENST00000443835.1_Missense_Mutation_p.S42I	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	42					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TCGGAGCAGGCTGAGACCACC	0.567																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(124-126)aGc>aTc		phosphatidylinositol glycan anchor biosynthesis, class Z							134.0	112.0	119.0					3																	196678778		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678778C>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.125G>T	3.37:g.196678778C>A	ENSP00000413405:p.Ser42Ile					PIGZ_ENST00000443835.1_Missense_Mutation_p.S42I	p.S42I	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	271	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		42					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.125G>T	CCDS3324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.64|11.64	1.697910|1.697910	0.30142|0.30142	.|.	.|.	ENSG00000119227|ENSG00000119227	ENST00000413127|ENST00000412723;ENST00000443835	.|T	.|0.11604	.|2.76	4.69|4.69	3.8|3.8	0.43715|0.43715	.|.	.|0.791331	.|0.11546	.|N	.|0.553283	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.25825|0.25825	0.765|0.765	0.26572|0.26572	N|N	0.973539|0.973539	.|B	.|0.22146	.|0.065	.|B	.|0.22880	.|0.042	T|T	0.34700|0.34700	-0.9818|-0.9818	5|10	.|0.22706	.|T	.|0.39	-2.1608|-2.1608	9.7721|9.7721	0.40595|0.40595	0.1576:0.69:0.1525:0.0|0.1576:0.69:0.1525:0.0	.|.	.|42	.|Q86VD9	.|PIGZ_HUMAN	H|I	8|42	.|ENSP00000413405:S42I	.|ENSP00000413405:S42I	Q|S	-|-	3|2	2|0	PIGZ|PIGZ	198163175|198163175	0.946000|0.946000	0.32159|0.32159	0.852000|0.852000	0.33557|0.33557	0.615000|0.615000	0.37417|0.37417	1.822000|1.822000	0.39052|0.39052	1.085000|1.085000	0.41206|0.41206	0.561000|0.561000	0.74099|0.74099	CAG|AGC		0.567	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		3	79	1	0	0.004672	1	0.00485625	3	79				
TCHHL1	126637	broad.mit.edu	37	1	152059571	152059571	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152059571A>T	ENST00000368806.1	-	3	651	c.587T>A	c.(586-588)aTa>aAa	p.I196K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	196							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTTGTTTGTATATCTTGAGC	0.433																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(586-588)aTa>aAa		trichohyalin-like 1							160.0	143.0	149.0					1																	152059571		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059571A>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.587T>A	1.37:g.152059571A>T	ENSP00000357796:p.Ile196Lys						p.I196K	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	651	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		196					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.587T>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.023684	0.35701	.	.	ENSG00000182898	ENST00000368806	T	0.24908	1.83	5.39	1.72	0.24424	.	1.945960	0.02837	N	0.127486	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.20955	0.032	T	0.21008	-1.0258	10	0.06099	T	0.92	0.0919	4.3175	0.11000	0.648:0.1714:0.1806:0.0	.	196	Q5QJ38	TCHL1_HUMAN	K	196	ENSP00000357796:I196K	ENSP00000357796:I196K	I	-	2	0	TCHHL1	150326195	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.181000	0.16880	0.035000	0.15519	0.460000	0.39030	ATA		0.433	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		5	283	0	0	0	1	0	5	283				
ITPR2	3709	broad.mit.edu	37	12	26774093	26774093	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:26774093C>T	ENST00000381340.3	-	26	3841	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E	ITPR2_ENST00000545902.1_5'Flank|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1142					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTGACTTTCCCCTATTTCTCC	0.408																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3424-3426)gGg>gAg		inositol 1,4,5-trisphosphate receptor, type 2							378.0	357.0	363.0					12																	26774093		1895	4129	6024	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26774093C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3425G>A	12.37:g.26774093C>T	ENSP00000370744:p.Gly1142Glu						p.G1142E	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			26	3841	-	Colorectal(261;0.0847)		1142					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3425G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259827	0.23051	.	.	ENSG00000123104	ENST00000381340	D	0.91464	-2.85	4.82	3.93	0.45458	.	0.466841	0.24384	N	0.038991	D	0.82706	0.5095	L	0.44542	1.39	0.23720	N	0.997023	B	0.02656	0.0	B	0.08055	0.003	T	0.63242	-0.6681	10	0.02654	T	1	.	8.8225	0.35034	0.0:0.7707:0.15:0.0793	.	1142	Q14571	ITPR2_HUMAN	E	1142	ENSP00000370744:G1142E	ENSP00000370744:G1142E	G	-	2	0	ITPR2	26665360	0.158000	0.22850	0.590000	0.28732	0.719000	0.41307	2.544000	0.45761	1.252000	0.44001	0.650000	0.86243	GGG		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	842	0	0	0	1	0	6	842				
ZNF280A	129025	broad.mit.edu	37	22	22869587	22869587	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:22869587G>T	ENST00000302097.3	-	2	620	c.368C>A	c.(367-369)cCt>cAt	p.P123H	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTATAACCAGGTTCAGATGA	0.483																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(367-369)cCt>cAt		zinc finger protein 280A							87.0	83.0	84.0					22																	22869587		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869587G>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.368C>A	22.37:g.22869587G>T	ENSP00000302855:p.Pro123His						p.P123H	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	620	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	123						Missense_Mutation	SNP	ENST00000302097.3	37	c.368C>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329626	0.24167	.	.	ENSG00000169548	ENST00000302097	T	0.26810	1.71	3.62	-1.29	0.09288	.	.	.	.	.	T	0.19327	0.0464	L	0.49778	1.585	0.09310	N	1	B	0.20671	0.047	B	0.22880	0.042	T	0.37478	-0.9704	9	0.87932	D	0	3.2572	1.8591	0.03185	0.1082:0.1766:0.3537:0.3615	.	123	P59817	Z280A_HUMAN	H	123	ENSP00000302855:P123H	ENSP00000302855:P123H	P	-	2	0	ZNF280A	21199587	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.481000	0.22260	-0.127000	0.11661	0.650000	0.86243	CCT		0.483	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		5	276	1	0	0.184627	1	0.185129	5	276				
UNC45B	146862	broad.mit.edu	37	17	33495211	33495211	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:33495211C>T	ENST00000268876.5	+	10	1380	c.1283C>T	c.(1282-1284)gCa>gTa	p.A428V	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.A428V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A428V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A428V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A428V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGATGGTGGCACTATGTGGC	0.592																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1282-1284)gCa>gTa		unc-45 homolog B (C. elegans)							125.0	92.0	103.0					17																	33495211		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495211C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1283C>T	17.37:g.33495211C>T	ENSP00000268876:p.Ala428Val					UNC45B_ENST00000378449.1_Missense_Mutation_p.A428V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A428V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A428V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A428V	p.A428V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1380	+		Ovarian(249;0.17)	428					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1283C>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641582	0.87859	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.50548	1.52;0.78;1.52;0.74	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.55743	1.74	0.33391	D	0.576162	D;D;D	0.69078	0.992;0.982;0.997	D;P;D	0.70716	0.97;0.814;0.953	T	0.66488	-0.5911	10	0.31617	T	0.26	-26.4122	17.8675	0.88800	0.0:1.0:0.0:0.0	.	428;428;428	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	428	ENSP00000378071:A428V;ENSP00000268876:A428V;ENSP00000412840:A428V;ENSP00000367710:A428V	ENSP00000268876:A428V	A	+	2	0	UNC45B	30519324	1.000000	0.71417	0.631000	0.29282	0.963000	0.63663	7.609000	0.82925	2.767000	0.95098	0.655000	0.94253	GCA		0.592	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		29	109	0	0	0	1	0	29	109				
DCDC1	341019	broad.mit.edu	37	11	30953424	30953424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:30953424C>A	ENST00000597505.1	-	20	2790	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	279					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCATATGGCTCTGTTGTCTTA	0.443																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(2791-2793)Gag>Tag		doublecortin domain containing 1							86.0	83.0	84.0					11																	30953424		2202	4299	6501	SO:0001587	stop_gained	341019				intracellular signal transduction			g.chr11:30953424C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2791G>T	11.37:g.30953424C>A	ENSP00000472625:p.Glu931*					DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000406071.2_5'UTR	p.E931*			P59894	DCDC1_HUMAN			20	2790	-	Lung SC(675;0.225)		279					A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	ENST00000597505.1	37	c.2791G>T		.	.	.	.	.	.	.	.	.	.	C	19.49	3.837571	0.71373	.	.	ENSG00000170959	ENST00000339794;ENST00000437348	.	.	.	4.55	2.66	0.31614	.	1.017930	0.07864	N	0.966744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0017	8.3862	0.32501	0.0:0.8081:0.0:0.1919	.	.	.	.	X	10	.	ENSP00000341700:E10X	E	-	1	0	DCDC5	30910000	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	0.488000	0.22371	0.614000	0.30107	0.455000	0.32223	GAG		0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		59	30	1	0	1.1362e-29	1	1.33948e-29	59	30				
GON4L	54856	broad.mit.edu	37	1	155735152	155735152	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:155735152A>T	ENST00000368331.1	-	21	4160	c.4112T>A	c.(4111-4113)gTa>gAa	p.V1371E	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.V1371E|GON4L_ENST00000271883.5_Missense_Mutation_p.V1371E|GON4L_ENST00000361040.5_Missense_Mutation_p.V1371E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1371					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTTTCGTTACTTCTCCAGC	0.502																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4111-4113)gTa>gAa		gon-4-like (C. elegans)							135.0	132.0	133.0					1																	155735152		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735152A>T	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4112T>A	1.37:g.155735152A>T	ENSP00000357315:p.Val1371Glu					GON4L_ENST00000368331.1_Missense_Mutation_p.V1371E|GON4L_ENST00000361040.5_Missense_Mutation_p.V1371E|GON4L_ENST00000271883.5_Missense_Mutation_p.V1371E|GON4L_ENST00000471341.1_5'UTR	p.V1371E			Q3T8J9	GON4L_HUMAN			21	4234	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1371					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.4112T>A		.	.	.	.	.	.	.	.	.	.	A	11.82	1.751378	0.31046	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.12672	2.87;2.87;2.87;2.66	4.82	-4.73	0.03259	.	1.357460	0.04877	N	0.447041	T	0.01800	0.0057	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.34015	0.435;0.19;0.002;0.003	B;B;B;B	0.31101	0.124;0.023;0.002;0.005	T	0.31166	-0.9953	10	0.02654	T	1	.	11.3893	0.49804	0.2181:0.6349:0.147:0.0	.	1371;567;1371;1371	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	E	1371	ENSP00000396117:V1371E;ENSP00000357315:V1371E;ENSP00000271883:V1371E;ENSP00000354322:V1371E	ENSP00000271883:V1371E	V	-	2	0	GON4L	154001776	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.141000	0.16076	-1.099000	0.03034	-1.136000	0.01936	GTA		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		8	665	0	0	0	1	0	8	665				
MAD1L1	8379	broad.mit.edu	37	7	2274853	2274853	+	5'Flank	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:2274853T>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Silent_p.V121V|MAD1L1_ENST00000402746.1_5'Flank|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000242257.8_Silent_p.V215V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGATGATCCTTACATTCTGGA	0.502																																						ENST00000242257.8																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(643-645)gtA>gtT		FtsJ RNA methyltransferase homolog 2 (E. coli)							116.0	107.0	110.0					7																	2274853		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2274853T>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2274853T>A	Exception_encountered					FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.V121V	p.V215V	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	673	-		Ovarian(82;0.0253)	215					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.645A>T	CCDS43539.1																																																																																				0.502	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		54	51	0	0	0	1	0	54	51				
VHL	7428	broad.mit.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	A	rs5030812|rs5030811		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:10188200C>A	ENST00000256474.2	+	2	1183	c.343C>A	c.(343-345)Cac>Aac	p.H115N	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		20	Substitution - Missense(13)|Deletion - Frameshift(4)|Unknown(3)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)	kidney(19)|pancreas(1)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM961423|CM982005	VHL	M	rs5030811	c.(343-345)Cac>Aac		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							167.0	155.0	159.0					3																	10188200		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188200C>A	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.343C>A	3.37:g.10188200C>A	ENSP00000256474:p.His115Asn					VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	p.H115N	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1183	+			115		H -> Q (in VHLD; type II).|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.343C>A	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226834	0.58668	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99963	-9.61	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99966	0.9987	M	0.84511	2.7	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.94877	0.8035	10	0.72032	D	0.01	0.1733	16.3181	0.82935	0.0:1.0:0.0:0.0	.	115	P40337	VHL_HUMAN	N	115;33	ENSP00000256474:H115N	ENSP00000256474:H115N	H	+	1	0	VHL	10163200	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.806000	0.69150	2.530000	0.85305	0.563000	0.77884	CAC		0.532	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		127	75	1	0	1.02559e-39	1	1.22473e-39	127	75				
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Nonsense_Mutation	SNP	G	G	T	rs181896248		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:51975487G>T	ENST00000220478.3	+	4	656	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	85					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(253-255)Gaa>Taa		secretogranin III							146.0	157.0	153.0					15																	51975487		2195	4293	6488	SO:0001587	stop_gained	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975487G>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.253G>T	15.37:g.51975487G>T	ENSP00000220478:p.Glu85*					SCG3_ENST00000542355.2_5'UTR	p.E85*	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	656	+			85					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Nonsense_Mutation	SNP	ENST00000220478.3	37	c.253G>T	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	39	7.368084	0.98241	.	.	ENSG00000104112	ENST00000220478	.	.	.	6.17	4.31	0.51392	.	0.561470	0.20641	N	0.088415	.	.	.	.	.	.	0.31076	N	0.712436	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9982	11.8228	0.52250	0.0668:0.1356:0.7976:0.0	.	.	.	.	X	85	.	ENSP00000220478:E85X	E	+	1	0	SCG3	49762779	1.000000	0.71417	0.629000	0.29254	0.994000	0.84299	3.117000	0.50407	0.941000	0.37499	0.655000	0.94253	GAA		0.373	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		23	203	1	0	2.21704e-12	1	2.51719e-12	23	203				
GDAP1	54332	broad.mit.edu	37	8	75276279	75276279	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:75276279G>A	ENST00000220822.7	+	6	834	c.754G>A	c.(754-756)Gct>Act	p.A252T	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.A184T	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	252	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CGTCTCACTCGCTGTCACATT	0.498																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(754-756)Gct>Act		ganglioside induced differentiation associated protein 1							71.0	69.0	70.0					8																	75276279		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75276279G>A		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.754G>A	8.37:g.75276279G>A	ENSP00000220822:p.Ala252Thr					GDAP1_ENST00000434412.2_Missense_Mutation_p.A184T|GDAP1_ENST00000521096.1_3'UTR	p.A252T	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	834	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	252			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.754G>A	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889113	0.91889	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.94537	-3.45;-3.45	4.99	4.99	0.66335	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	L	0.42529	1.33	0.58432	D	0.999996	D	0.62365	0.991	P	0.55667	0.781	D	0.91604	0.5297	10	0.14656	T	0.56	-13.0359	18.8301	0.92135	0.0:0.0:1.0:0.0	.	252	Q8TB36	GDAP1_HUMAN	T	252;184	ENSP00000220822:A252T;ENSP00000417006:A184T	ENSP00000220822:A252T	A	+	1	0	GDAP1	75438834	1.000000	0.71417	0.969000	0.41365	0.809000	0.45718	9.092000	0.94157	2.767000	0.95098	0.655000	0.94253	GCT		0.498	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		3	120	0	0	0	1	0	3	120				
YTHDC2	64848	broad.mit.edu	37	5	112899724	112899724	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:112899724G>A	ENST00000161863.4	+	20	2824	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	871					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGATCCTTTTGTACTACCTAC	0.433																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2611-2613)Gta>Ata		YTH domain containing 2							187.0	179.0	182.0					5																	112899724		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112899724G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2611G>A	5.37:g.112899724G>A	ENSP00000161863:p.Val871Ile						p.V871I	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	20	2824	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	871					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.2611G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938180	0.52972	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.29655	1.56	5.08	4.15	0.48705	Helicase-associated domain (2);	0.133715	0.50627	D	0.000110	T	0.23688	0.0573	N	0.16166	0.38	0.80722	D	1	B	0.27910	0.193	B	0.37091	0.241	T	0.09796	-1.0658	10	0.30854	T	0.27	.	15.275	0.73734	0.0:0.1406:0.8594:0.0	.	871	Q9H6S0	YTDC2_HUMAN	I	871;781	ENSP00000161863:V871I	ENSP00000161863:V871I	V	+	1	0	YTHDC2	112927623	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	5.338000	0.65947	2.529000	0.85273	0.655000	0.94253	GTA		0.433	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		8	960	0	0	0	1	0	8	960				
TXNDC15	79770	broad.mit.edu	37	5	134235301	134235301	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:134235301A>T	ENST00000358387.4	+	5	1634	c.1009A>T	c.(1009-1011)Att>Ttt	p.I337F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I314F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	337					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATTAGTTTTATTATGTATGC	0.408																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(1009-1011)Att>Ttt		thioredoxin domain containing 15							122.0	121.0	121.0					5																	134235301		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134235301A>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.1009A>T	5.37:g.134235301A>T	ENSP00000351157:p.Ile337Phe					TXNDC15_ENST00000546290.1_Missense_Mutation_p.I314F	p.I337F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	1634	+			337					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.1009A>T	CCDS4180.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.29|16.29|16.29	3.082318|3.082318|3.082318	0.55861|0.55861|0.55861	.|.|.	.|.|.	ENSG00000113621|ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290|ENST00000508779|ENST00000509954	T;T|.|.	0.51817|.|.	0.69;0.7|.|.	5.75|5.75|5.75	4.6|4.6|4.6	0.57074|0.57074|0.57074	.|.|.	0.099186|.|.	0.64402|.|.	D|.|.	0.000002|.|.	T|T|T	0.43743|0.43743|0.43743	0.1261|0.1261|0.1261	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.49130|0.49130|0.49130	D|D|D	0.999753|0.999753|0.999753	P|.|.	0.45902|.|.	0.868|.|.	P|.|.	0.45506|.|.	0.483|.|.	T|T|T	0.24941|0.24941|0.24941	-1.0146|-1.0146|-1.0146	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-15.6806|-15.6806|-15.6806	9.4045|9.4045|9.4045	0.38453|0.38453|0.38453	0.8077:0.0:0.1923:0.0|0.8077:0.0:0.1923:0.0|0.8077:0.0:0.1923:0.0	.|.|.	337|.|.	Q96J42|.|.	TXD15_HUMAN|.|.	F|F|F	321;337;314|320|91	ENSP00000351157:I337F;ENSP00000443942:I314F|.|.	ENSP00000351157:I337F|.|.	I|L|Y	+|+|+	1|3|2	0|2|0	TXNDC15|TXNDC15|TXNDC15	134263200|134263200|134263200	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	3.159000|3.159000|3.159000	0.50731|0.50731|0.50731	1.016000|1.016000|1.016000	0.39470|0.39470|0.39470	-0.250000|-0.250000|-0.250000	0.11733|0.11733|0.11733	ATT|TTA|TAT		0.408	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		4	69	0	0	0	1	0	4	69				
AKAP4	8852	broad.mit.edu	37	X	49957789	49957789	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:49957789A>T	ENST00000376056.2	-	5	1698	c.1548T>A	c.(1546-1548)aaT>aaA	p.N516K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.N525K|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.N516K					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTCATCTTTATTGCTGCATG	0.473																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1546-1548)aaT>aaA		A kinase (PRKA) anchor protein 4							213.0	174.0	187.0					X																	49957789		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957789A>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1548T>A	X.37:g.49957789A>T	ENSP00000365224:p.Asn516Lys					AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.N525K|AKAP4_ENST00000376064.3_Missense_Mutation_p.N516K|AKAP4_ENST00000481402.1_5'UTR	p.N516K			Q5JQC9	AKAP4_HUMAN			5	1698	-	Ovarian(276;0.236)		525						Missense_Mutation	SNP	ENST00000376056.2	37	c.1548T>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	A	1.124	-0.654317	0.03480	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.06142	3.34;3.34;3.34	4.93	0.809	0.18725	A-kinase anchor 110kDa, C-terminal (1);	0.894265	0.09498	N	0.793978	T	0.05273	0.0140	L	0.44542	1.39	0.09310	N	1	B	0.28820	0.224	B	0.23419	0.046	T	0.42137	-0.9469	9	.	.	.	-5.2687	3.5439	0.07821	0.5773:0.1967:0.226:0.0	.	525	Q5JQC9	AKAP4_HUMAN	K	516;525;516	ENSP00000365224:N516K;ENSP00000351327:N525K;ENSP00000365232:N516K	.	N	-	3	2	AKAP4	49844529	0.003000	0.15002	0.021000	0.16686	0.086000	0.17979	0.232000	0.17891	0.564000	0.29238	0.427000	0.28365	AAT		0.473	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		9	721	0	0	0	1	0	9	721				
DIP2B	57609	broad.mit.edu	37	12	51117016	51117016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:51117016C>A	ENST00000301180.5	+	27	3232	c.3198C>A	c.(3196-3198)tgC>tgA	p.C1066*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1066						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTATGGCTGCCTGTATGCGG	0.517																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3196-3198)tgC>tgA		DIP2 disco-interacting protein 2 homolog B (Drosophila)							163.0	139.0	147.0					12																	51117016		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51117016C>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3198C>A	12.37:g.51117016C>A	ENSP00000301180:p.Cys1066*						p.C1066*	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			27	3232	+			1066					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.3198C>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	39	7.771020	0.98480	.	.	ENSG00000066084	ENST00000301180	.	.	.	4.95	3.13	0.36017	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9297	11.6438	0.51249	0.0:0.7952:0.0:0.2048	.	.	.	.	X	1066	.	ENSP00000301180:C1066X	C	+	3	2	DIP2B	49403283	0.981000	0.34729	1.000000	0.80357	0.812000	0.45895	0.361000	0.20267	1.477000	0.48234	0.563000	0.77884	TGC		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		11	325	1	0	5.50884e-06	1	6.03193e-06	11	325				
PABPC3	5042	broad.mit.edu	37	13	25670434	25670434	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:25670434C>T	ENST00000281589.3	+	1	135	c.98C>T	c.(97-99)cCg>cTg	p.P33L		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	33	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTTCAGCCCGGCAGGGCCC	0.617																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(97-99)cCg>cTg		poly(A) binding protein, cytoplasmic 3							76.0	74.0	75.0					13																	25670434		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670434C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.98C>T	13.37:g.25670434C>T	ENSP00000281589:p.Pro33Leu						p.P33L	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	135	+		Lung SC(185;0.0225)|Breast(139;0.0602)	33			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.98C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	8.258	0.810492	0.16537	.	.	ENSG00000151846	ENST00000281589	T	0.17370	2.28	0.546	-1.09	0.09904	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.182139	0.23983	U	0.042660	T	0.18130	0.0435	M	0.75447	2.3	0.46901	D	0.999247	B	0.25312	0.123	B	0.21151	0.033	T	0.03863	-1.0997	10	0.62326	D	0.03	.	8.5727	0.33578	0.0:0.7203:0.2797:0.0	.	33	Q9H361	PABP3_HUMAN	L	33	ENSP00000281589:P33L	ENSP00000281589:P33L	P	+	2	0	PABPC3	24568434	0.921000	0.31238	0.074000	0.20217	0.005000	0.04900	2.789000	0.47813	-1.905000	0.01090	-2.270000	0.00275	CCG		0.617	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		7	513	0	0	0	1	0	7	513				
PRAMEF10	343071	broad.mit.edu	37	1	12954436	12954436	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:12954436G>A	ENST00000235347.4	-	3	926	c.847C>T	c.(847-849)Cac>Tac	p.H283Y		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	283					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTGCTCTTTGATA	0.453																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(847-849)Cac>Tac		PRAME family member 10							3.0	2.0	2.0					1																	12954436		812	1707	2519	SO:0001583	missense	343071							g.chr1:12954436G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.847C>T	1.37:g.12954436G>A	ENSP00000235347:p.His283Tyr						p.H283Y	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	926	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	283					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.847C>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	2.001	-0.429351	0.04701	.	.	ENSG00000187545	ENST00000235347	T	0.00949	5.51	1.57	1.57	0.23409	.	0.767706	0.12378	N	0.474125	T	0.01061	0.0035	L	0.42632	1.34	0.09310	N	1	B	0.16802	0.019	B	0.18871	0.023	T	0.43114	-0.9411	10	0.36615	T	0.2	.	6.6166	0.22780	0.0:0.0:1.0:0.0	.	283	O60809	PRA10_HUMAN	Y	283	ENSP00000235347:H283Y	ENSP00000235347:H283Y	H	-	1	0	PRAMEF10	12877023	0.001000	0.12720	0.002000	0.10522	0.251000	0.25915	0.005000	0.13129	1.176000	0.42840	0.194000	0.17425	CAC		0.453	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		243	115	0	0	0	1	0	243	115				
ZNF292	23036	broad.mit.edu	37	6	87970890	87970890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:87970890C>T	ENST00000369577.3	+	8	7586	c.7543C>T	c.(7543-7545)Cag>Tag	p.Q2515*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2515						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATGATTTTCAGGAAGATAA	0.299																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(7543-7545)Cag>Tag		zinc finger protein 292							41.0	39.0	40.0					6																	87970890		1799	4055	5854	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970890C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7543C>T	6.37:g.87970890C>T	ENSP00000358590:p.Gln2515*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	p.Q2515*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7586	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2515					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.7543C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	43	9.827955	0.99273	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.76	4.88	0.63580	.	0.211843	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	16.1635	0.81734	0.1346:0.8654:0.0:0.0	.	.	.	.	X	2515;2510	.	ENSP00000342847:Q2510X	Q	+	1	0	ZNF292	88027609	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	2.208000	0.42797	1.410000	0.46936	0.591000	0.81541	CAG		0.299	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		6	23	0	0	0	1	0	6	23				
DNAJB4	11080	broad.mit.edu	37	1	78478852	78478852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:78478852T>C	ENST00000370763.5	+	2	586	c.329T>C	c.(328-330)aTt>aCt	p.I110T	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	110					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCTTTGAAATTTTCTTTGGA	0.448																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(328-330)aTt>aCt		DnaJ (Hsp40) homolog, subfamily B, member 4							128.0	133.0	132.0					1																	78478852		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78478852T>C	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.329T>C	1.37:g.78478852T>C	ENSP00000359799:p.Ile110Thr					DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	p.I110T	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	586	+			110					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.329T>C	CCDS684.1	.	.	.	.	.	.	.	.	.	.	T	8.222	0.802791	0.16397	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.72942	-0.7;-0.7	5.38	4.24	0.50183	.	0.165132	0.56097	D	0.000026	T	0.35653	0.0939	N	0.25789	0.76	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19321	-1.0309	10	0.15066	T	0.55	.	11.2203	0.48851	0.0:0.0721:0.0:0.9279	.	110	Q9UDY4	DNJB4_HUMAN	T	110	ENSP00000399494:I110T;ENSP00000359799:I110T	ENSP00000359799:I110T	I	+	2	0	DNAJB4	78251440	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.110000	0.64622	0.867000	0.35654	0.524000	0.50904	ATT		0.448	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			81	278	0	0	0	1	0	81	278				
SUSD3	203328	broad.mit.edu	37	9	95840260	95840260	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:95840260G>A	ENST00000375472.3	+	3	446	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.R124Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	137						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGAGCAAGCGGCGGCGCTCC	0.607																																						ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(409-411)cGg>cAg		sushi domain containing 3							131.0	108.0	116.0					9																	95840260		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95840260G>A	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.410G>A	9.37:g.95840260G>A	ENSP00000364621:p.Arg137Gln					SUSD3_ENST00000375469.1_Missense_Mutation_p.R124Q	p.R137Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN			3	446	+			137					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.410G>A	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	G	6.422	0.446064	0.12164	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.61742	0.08;0.48	5.16	-10.3	0.00346	.	1.183550	0.05918	N	0.632889	T	0.33760	0.0874	N	0.16790	0.44	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17930	-1.0353	10	0.22706	T	0.39	-2.6107	11.5063	0.50468	0.2048:0.223:0.5722:0.0	.	124;137	Q96L08-2;Q96L08	.;SUSD3_HUMAN	Q	137;124	ENSP00000364621:R137Q;ENSP00000364618:R124Q	ENSP00000364618:R124Q	R	+	2	0	SUSD3	94880081	0.267000	0.24122	0.000000	0.03702	0.003000	0.03518	0.192000	0.17096	-1.722000	0.01377	-1.701000	0.00721	CGG		0.607	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		5	757	0	0	0	1	0	5	757				
AICDA	57379	broad.mit.edu	37	12	8758017	8758017	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:8758017C>T	ENST00000229335.6	-	3	324	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	74					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCGGTAGCAGCGGCCAGGGTC	0.602																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(220-222)cGc>cAc		activation-induced cytidine deaminase							49.0	55.0	53.0					12																	8758017		2103	4239	6342	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758017C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.221G>A	12.37:g.8758017C>T	ENSP00000229335:p.Arg74His					AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN			3	324	-	Lung SC(5;0.184)		74					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.221G>A	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.907280|2.907280	0.52333|0.52333	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.65549	.|-0.16;-0.16	5.43|5.43	4.54|4.54	0.55810|0.55810	.|APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.|0.118717	.|0.56097	.|D	.|0.000028	T|T	0.61451|0.61451	0.2348|0.2348	M|M	0.69823|0.69823	2.125|2.125	0.41943|0.41943	D|D	0.99062|0.99062	.|B;B;B	.|0.16396	.|0.009;0.017;0.009	.|B;B;B	.|0.15484	.|0.013;0.013;0.013	T|T	0.61792|0.61792	-0.6990|-0.6990	5|10	.|0.56958	.|D	.|0.05	-22.3214|-22.3214	12.8945|12.8945	0.58091|0.58091	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	.|74;74;74	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	T|H	73|74	.|ENSP00000229335:R74H;ENSP00000445691:R74H	.|ENSP00000229335:R74H	A|R	-|-	1|2	0|0	AICDA|AICDA	8649284|8649284	0.997000|0.997000	0.39634|0.39634	0.858000|0.858000	0.33744|0.33744	0.806000|0.806000	0.45545|0.45545	4.017000|4.017000	0.57167|0.57167	1.295000|1.295000	0.44724|0.44724	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.602	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		73	188	0	0	0	1	0	73	188				
RAD23B	5887	broad.mit.edu	37	9	110086193	110086193	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:110086193G>A	ENST00000358015.3	+	8	1191	c.840G>A	c.(838-840)cgG>cgA	p.R280R	RAD23B_ENST00000416373.2_Silent_p.R208R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	280	STI1.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTTTTACGGAATCAGCCTC	0.358								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(838-840)cgG>cgA	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							143.0	140.0	141.0					9																	110086193		2202	4300	6502	SO:0001819	synonymous_variant	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110086193G>A		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.840G>A	9.37:g.110086193G>A						RAD23B_ENST00000416373.2_Silent_p.R208R	p.R280R	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			8	1191	+			280			STI1.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Silent	SNP	ENST00000358015.3	37	c.840G>A	CCDS6769.1																																																																																				0.358	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		7	133	0	0	0	1	0	7	133				
TARS	6897	broad.mit.edu	37	5	33453474	33453474	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:33453474G>A	ENST00000265112.3	+	4	721	c.410G>A	c.(409-411)tGt>tAt	p.C137Y	TARS_ENST00000541634.1_Missense_Mutation_p.C33Y|TARS_ENST00000455217.2_Missense_Mutation_p.C170Y|TARS_ENST00000414361.2_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.C137Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	137					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GAAGAAGATTGTACCTTGGAG	0.398																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(409-411)tGt>tAt		threonyl-tRNA synthetase	L-Threonine(DB00156)						117.0	120.0	119.0					5																	33453474		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33453474G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.410G>A	5.37:g.33453474G>A	ENSP00000265112:p.Cys137Tyr					TARS_ENST00000455217.2_Missense_Mutation_p.C170Y|TARS_ENST00000541634.1_Missense_Mutation_p.C33Y|TARS_ENST00000502553.1_Missense_Mutation_p.C137Y|TARS_ENST00000414361.2_Intron	p.C137Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			4	721	+			137					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.410G>A	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307347	0.81247	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.78	5.78	0.91487	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	H	0.97077	3.935	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.73380	0.98;0.967;0.98	T	0.60203	-0.7309	10	0.87932	D	0	-24.5043	20.0713	0.97726	0.0:0.0:1.0:0.0	.	170;33;137	B4DEG8;G3XAN9;P26639	.;.;SYTC_HUMAN	Y	137;137;33;170	ENSP00000424387:C137Y;ENSP00000265112:C137Y;ENSP00000438469:C33Y;ENSP00000387710:C170Y	ENSP00000265112:C137Y	C	+	2	0	TARS	33489231	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.564000	0.73969	2.751000	0.94390	0.585000	0.79938	TGT		0.398	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		4	219	0	0	0	1	0	4	219				
E2F8	79733	broad.mit.edu	37	11	19247052	19247052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:19247052C>T	ENST00000527884.1	-	12	2369	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	E2F8_ENST00000250024.4_Missense_Mutation_p.G713R|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'Flank	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	713					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCTGTTCCCGACAGGTACG	0.522																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2137-2139)Ggg>Agg		E2F transcription factor 8							79.0	74.0	76.0					11																	19247052		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247052C>T		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2137G>A	11.37:g.19247052C>T	ENSP00000434199:p.Gly713Arg					RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.G713R	p.G713R	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			12	2369	-			713					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.2137G>A	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267982	0.59540	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.21361	2.01;2.01	5.98	5.98	0.97165	.	0.639220	0.16959	N	0.192585	T	0.27798	0.0684	L	0.46157	1.445	0.29841	N	0.829239	D	0.61697	0.99	P	0.51055	0.657	T	0.16247	-1.0409	10	0.51188	T	0.08	-17.8016	10.0214	0.42046	0.0:0.7878:0.1394:0.0728	.	713	A0AVK6	E2F8_HUMAN	R	713	ENSP00000434199:G713R;ENSP00000250024:G713R	ENSP00000250024:G713R	G	-	1	0	E2F8	19203628	0.903000	0.30736	1.000000	0.80357	0.994000	0.84299	1.956000	0.40382	2.838000	0.97847	0.591000	0.81541	GGG		0.522	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	76	0	0	0	1	0	17	76				
VPS11	55823	broad.mit.edu	37	11	118948939	118948939	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:118948939C>T	ENST00000300793.6	+	12	1857	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	606					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGCTGAAAGCCTTCCTAGAGC	0.552																																						ENST00000300793.6																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29						c.(1813-1815)gcC>gcT		vacuolar protein sorting 11 homolog (S. cerevisiae)							151.0	151.0	151.0					11																	118948939		1992	4167	6159	SO:0001819	synonymous_variant	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948939C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1815C>T	11.37:g.118948939C>T						VPS11_ENST00000527798.1_3'UTR	p.A605A	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	12	1857	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	606					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Silent	SNP	ENST00000300793.6	37	c.1815C>T																																																																																					0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		48	260	0	0	0	1	0	48	260				
KIF16B	55614	broad.mit.edu	37	20	16407888	16407888	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:16407888T>A	ENST00000354981.2	-	15	1632		c.e15-2		KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CATGAAGAACTAAAGTGGAAA	0.393																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.e15-2		kinesin family member 16B							62.0	61.0	61.0					20																	16407888		2203	4300	6503	SO:0001630	splice_region_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16407888T>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1475-2A>T	20.37:g.16407888T>A						KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site		NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			15	1632	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751461	0.69533	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8336	0.78778	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF16B	16355888	1.000000	0.71417	0.975000	0.42487	0.648000	0.38561	8.040000	0.89188	2.153000	0.67306	0.528000	0.53228	.		0.393	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Intron	5	229	0	0	0	1	0	5	229				
CHMP2A	27243	broad.mit.edu	37	19	59063676	59063676	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:59063676C>T	ENST00000600118.1	-	2	723	c.298G>A	c.(298-300)Gca>Aca	p.A100T	CHMP2A_ENST00000312547.2_Missense_Mutation_p.A100T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A100T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	100	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCTTGTGCCATCGAGTTG	0.577																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(298-300)Gca>Aca		charged multivesicular body protein 2A							213.0	162.0	179.0					19																	59063676		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063676C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.298G>A	19.37:g.59063676C>T	ENSP00000469240:p.Ala100Thr					CHMP2A_ENST00000312547.2_Missense_Mutation_p.A100T|CHMP2A_ENST00000601220.1_Missense_Mutation_p.A100T	p.A100T			O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	2	723	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	100			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.298G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688791	0.68271	.	.	ENSG00000130724	ENST00000312547	T	0.72725	-0.68	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.67700	2.07	0.80722	D	1	P	0.37688	0.605	B	0.33799	0.17	T	0.68618	-0.5361	10	0.33141	T	0.24	.	16.6217	0.84932	0.0:1.0:0.0:0.0	.	100	O43633	CHM2A_HUMAN	T	100	ENSP00000310440:A100T	ENSP00000310440:A100T	A	-	1	0	CHMP2A	63755488	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.020000	0.76419	2.606000	0.88127	0.650000	0.86243	GCA		0.577	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		5	450	0	0	0	1	0	5	450				
RAMP2	10266	broad.mit.edu	37	17	40914403	40914403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:40914403T>C	ENST00000253796.5	+	3	262	c.194T>C	c.(193-195)gTc>gCc	p.V65A	RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000587142.1_Missense_Mutation_p.V70A|RAMP2_ENST00000588576.1_Intron|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	65					adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GAGACAGCTGTCCAATTTTGC	0.512																																						ENST00000253796.5																			0				endometrium(2)|lung(1)|stomach(1)	4						c.(193-195)gTc>gCc		receptor (G protein-coupled) activity modifying protein 2	Pramlintide(DB01278)						149.0	144.0	146.0					17																	40914403		2203	4300	6503	SO:0001583	missense	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40914403T>C	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.194T>C	17.37:g.40914403T>C	ENSP00000253796:p.Val65Ala					RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000587142.1_Missense_Mutation_p.V70A|RAMP2_ENST00000589683.1_5'UTR	p.V65A	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	3	262	+		Breast(137;0.000143)	65					A7L9S6|K7EMD3|Q8N1F2	Missense_Mutation	SNP	ENST00000253796.5	37	c.194T>C	CCDS11437.1	.	.	.	.	.	.	.	.	.	.	T	6.683	0.494626	0.12702	.	.	ENSG00000131477	ENST00000253796	T	0.40476	1.03	4.41	-1.6	0.08426	.	0.923693	0.09217	N	0.832442	T	0.22781	0.0550	N	0.12471	0.22	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.25433	-1.0132	10	0.25751	T	0.34	-37.5378	9.6121	0.39670	0.0:0.582:0.0:0.418	.	70;65	E7EM49;O60895	.;RAMP2_HUMAN	A	65	ENSP00000253796:V65A	ENSP00000253796:V65A	V	+	2	0	RAMP2	38167929	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.187000	0.09656	-0.207000	0.10187	0.402000	0.26972	GTC		0.512	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854		5	269	0	0	0	1	0	5	269				
METTL4	64863	broad.mit.edu	37	18	2547452	2547452	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:2547452T>A	ENST00000574538.1	-	6	1751	c.976A>T	c.(976-978)Act>Tct	p.T326S	METTL4_ENST00000319888.6_Missense_Mutation_p.T326S	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	326					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTCACCCAAGTAACAAGAAGA	0.408																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(976-978)Act>Tct		methyltransferase like 4							83.0	79.0	80.0					18																	2547452		2203	4300	6503	SO:0001583	missense	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2547452T>A		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.976A>T	18.37:g.2547452T>A	ENSP00000458290:p.Thr326Ser					METTL4_ENST00000574538.1_Missense_Mutation_p.T326S	p.T326S			Q8N3J2	METL4_HUMAN			6	1774	-			326					B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	c.976A>T	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800716	0.90538	.	.	ENSG00000101574	ENST00000319888	T	0.41758	0.99	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.75447	2.3	0.58432	D	0.999991	D;D	0.89917	0.996;1.0	D;D	0.80764	0.97;0.994	T	0.69591	-0.5104	10	0.87932	D	0	-26.8289	15.7396	0.77882	0.0:0.0:0.0:1.0	.	326;326	A8K1T6;Q8N3J2	.;METL4_HUMAN	S	326	ENSP00000320349:T326S	ENSP00000320349:T326S	T	-	1	0	METTL4	2537452	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	7.261000	0.78400	2.179000	0.69175	0.528000	0.53228	ACT		0.408	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		6	298	0	0	0	1	0	6	298				
WDR75	84128	broad.mit.edu	37	2	190334800	190334800	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:190334800A>T	ENST00000314761.4	+	17	1879		c.e17-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTTTCCCTCTAGTGTTTGTAT	0.428																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.e17-1		WD repeat domain 75							142.0	148.0	146.0					2																	190334800		2203	4300	6503	SO:0001630	splice_region_variant	84128					nucleolus		g.chr2:190334800A>T	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1820-1A>T	2.37:g.190334800A>T								NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		17	1879	+								Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Splice_Site	SNP	ENST00000314761.4	37		CCDS2298.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549188	0.86127	.	.	ENSG00000115368	ENST00000314761	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR75	190043045	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.767000	0.91732	2.285000	0.76669	0.477000	0.44152	.		0.428	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	Intron	6	418	0	0	0	1	0	6	418				
ZNF772	400720	broad.mit.edu	37	19	57985282	57985282	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:57985282C>T	ENST00000343280.4	-	5	1090	c.830G>A	c.(829-831)cGc>cAc	p.R277H	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R277H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGAGTCTTTGCGGCTGAAGGT	0.488																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			1	Substitution - Missense(1)	p.R277H(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(829-831)cGc>cAc		zinc finger protein 772							111.0	106.0	108.0					19																	57985282		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985282C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.830G>A	19.37:g.57985282C>T	ENSP00000341165:p.Arg277His					ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R165H|ZNF772_ENST00000356584.3_Missense_Mutation_p.R236H|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron	p.R277H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	1090	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	277					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.830G>A	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798193	0.31777	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.01034	5.42;5.42;5.42	3.54	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	L	0.31578	0.945	0.80722	D	1	B;P;D	0.65815	0.437;0.492;0.995	B;B;D	0.63488	0.011;0.028;0.915	T	0.72431	-0.4296	9	0.18276	T	0.48	.	4.924	0.13883	0.0:0.7489:0.0:0.2511	.	165;236;277	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	H	277;165;236;202	ENSP00000341165:R277H;ENSP00000395967:R165H;ENSP00000348992:R236H	ENSP00000291809:R202H	R	-	2	0	ZNF772	62677094	0.000000	0.05858	1.000000	0.80357	0.861000	0.49209	-1.674000	0.01949	2.007000	0.58848	0.305000	0.20034	CGC		0.488	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		4	324	0	0	0	1	0	4	324				
TCOF1	6949	broad.mit.edu	37	5	149749096	149749096	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:149749096G>T	ENST00000504761.2	+	6	570	c.570G>T	c.(568-570)atG>atT	p.M190I	TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I|TCOF1_ENST00000451292.1_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	190					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGGGATGGTGTCAGCGG	0.627																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(568-570)atG>atT		Treacher Collins-Franceschetti syndrome 1							87.0	77.0	80.0					5																	149749096		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149749096G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.570G>T	5.37:g.149749096G>T	ENSP00000421655:p.Met190Ile					TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I|TCOF1_ENST00000504761.2_Missense_Mutation_p.M190I|TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I	p.M190I			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	678	+		all_hematologic(541;0.224)	190					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.570G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937672	0.34189	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.74209	-0.8;-0.8;-0.82;-0.82;-0.8;1.6;-0.8;-0.8;-0.8	3.36	0.471	0.16752	.	1.043690	0.07588	N	0.921452	T	0.67608	0.2911	L	0.57536	1.79	0.09310	N	1	P;B;P;P;B;B	0.36733	0.494;0.002;0.494;0.567;0.002;0.005	B;B;B;B;B;B	0.39217	0.294;0.002;0.294;0.154;0.002;0.004	T	0.54417	-0.8297	10	0.33141	T	0.24	-0.0424	3.4449	0.07477	0.2504:0.217:0.5326:0.0	.	190;190;190;190;190;190	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	I	190	ENSP00000400939:M190I;ENSP00000367028:M190I;ENSP00000409944:M190I;ENSP00000325223:M190I;ENSP00000406888:M190I;ENSP00000377811:M190I;ENSP00000390717:M190I;ENSP00000421655:M190I;ENSP00000427484:M190I	ENSP00000325223:M190I	M	+	3	0	TCOF1	149729289	0.064000	0.20934	0.019000	0.16419	0.509000	0.34042	0.613000	0.24299	0.085000	0.17107	0.462000	0.41574	ATG		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		43	124	1	0	1.36018e-38	1	1.61905e-38	43	124				
PCED1B	91523	broad.mit.edu	37	12	47471984	47471984	+	5'Flank	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:47471984G>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.H268N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N|AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.H268N(2)									TGACGCGAGTGCCTGGAGTCA	0.478																																						ENST00000266581.4																			2	Substitution - Missense(2)	p.H268N(2)	endometrium(1)|kidney(1)	endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(802-804)Cac>Aac		adhesion molecule with Ig-like domain 2							82.0	80.0	81.0					12																	47471984		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471984G>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471984G>T	Exception_encountered					AMIGO2_ENST00000321382.3_Missense_Mutation_p.H268N|AMIGO2_ENST00000429635.1_Missense_Mutation_p.H268N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.H268N	p.H268N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1268	-	Renal(347;0.138)|Lung SC(27;0.192)		268			LRRCT.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.802C>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	3.540	-0.093947	0.07053	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02345	4.33;4.33;4.33;4.33	4.66	1.51	0.23008	Cysteine-rich flanking region, C-terminal (1);	1.248050	0.05130	N	0.492435	T	0.02455	0.0075	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48703	-0.9012	10	0.19590	T	0.45	-0.839	2.3375	0.04252	0.0966:0.2332:0.3903:0.2799	.	268	Q86SJ2	AMGO2_HUMAN	N	268	ENSP00000266581:H268N;ENSP00000449034:H268N;ENSP00000406020:H268N;ENSP00000320848:H268N	ENSP00000266581:H268N	H	-	1	0	AMIGO2	45758251	0.025000	0.19082	0.013000	0.15412	0.911000	0.54048	1.657000	0.37366	0.631000	0.30412	0.555000	0.69702	CAC		0.478	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		6	129	1	0	0.00116845	1	0.00122837	6	129				
HERC2P4	100289574	broad.mit.edu	37	16	32163517	32163517	+	IGR	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:32163517C>T								RP11-1166P10.6 (67411 upstream) : HERC2P4 (17787 downstream)																							CGGGGTGATGCCAGTCACGGT	0.562																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	100289574							g.chr16:32163517C>T																													16.37:g.32163517C>T														0	65	-									RNA	SNP		37																																																																																					0	0.562									4	279	0	0	0	1	0	4	279				
PBRM1	55193	broad.mit.edu	37	3	52662912	52662912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:52662912G>A	ENST00000296302.7	-	12	1442	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q449*			Q86U86	PB1_HUMAN	polybromo 1	481					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATCACACCTGCATAACTTGC	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1345-1347)Cag>Tag		polybromo 1							89.0	84.0	86.0					3																	52662912		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52662912G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1441C>T	3.37:g.52662912G>A	ENSP00000296302:p.Gln481*					PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*	p.Q449*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	11	1347	-			481			Bromo 3.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1345C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.065041	0.97251	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	0.9419	18.7389	0.91767	0.0:0.0:1.0:0.0	.	.	.	.	X	449;481;481;481;481;481;481;481;481;425	.	ENSP00000296302:Q481X	Q	-	1	0	PBRM1	52637952	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.476000	0.97823	2.430000	0.82344	0.563000	0.77884	CAG		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		41	59	0	0	0	1	0	41	59				
OR4A47	403253	broad.mit.edu	37	11	48511101	48511101	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:48511101A>T	ENST00000446524.1	+	1	833	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTTCCTTGTATTTTTATGTA	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(757-759)Att>Ttt		olfactory receptor, family 4, subfamily A, member 47							210.0	203.0	206.0					11																	48511101		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511101A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.757A>T	11.37:g.48511101A>T	ENSP00000412752:p.Ile253Phe						p.I253F	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	833	+			253						Missense_Mutation	SNP	ENST00000446524.1	37	c.757A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.88	2.071358	0.36566	.	.	ENSG00000237388	ENST00000446524	T	0.38887	1.11	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.112422	0.39759	N	0.001267	T	0.53254	0.1785	L	0.49256	1.55	0.34554	D	0.711651	D	0.71674	0.998	D	0.70935	0.971	T	0.66284	-0.5962	10	0.87932	D	0	.	7.5947	0.28041	0.8099:0.0:0.0:0.1901	.	253	Q6IF82	O4A47_HUMAN	F	253	ENSP00000412752:I253F	ENSP00000412752:I253F	I	+	1	0	OR4A47	48467677	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	0.243000	0.18106	1.692000	0.51112	0.172000	0.16884	ATT		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		9	645	0	0	0	1	0	9	645				
ATP1A1	476	broad.mit.edu	37	1	116932982	116932982	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:116932982A>G	ENST00000295598.5	+	9	1423	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	ATP1A1_ENST00000537345.1_Missense_Mutation_p.M391V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	391					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGTGGCCCACATGTGGTTTGA	0.507																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(1171-1173)Atg>Gtg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						74.0	69.0	71.0					1																	116932982		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932982A>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1171A>G	1.37:g.116932982A>G	ENSP00000295598:p.Met391Val					ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.M391V	p.M391V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	9	1534	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	391					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.1171A>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.272851	0.59649	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.77620	-1.11;-1.11;-1.11	4.87	4.87	0.63330	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.069535	0.85682	D	0.000000	T	0.43478	0.1249	N	0.02011	-0.69	0.80722	D	1	B;B	0.19200	0.028;0.034	B;B	0.31390	0.079;0.129	T	0.49495	-0.8934	10	0.38643	T	0.18	.	14.6423	0.68734	1.0:0.0:0.0:0.0	.	391;391	F5H3A1;P05023	.;AT1A1_HUMAN	V	391;391;390;360	ENSP00000295598:M391V;ENSP00000445306:M391V;ENSP00000358508:M360V	ENSP00000295598:M391V	M	+	1	0	ATP1A1	116734505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.305000	0.78891	2.068000	0.61886	0.528000	0.53228	ATG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		53	68	0	0	0	1	0	53	68				
CASP10	843	broad.mit.edu	37	2	202060612	202060612	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:202060612C>A	ENST00000272879.5	+	5	809	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000286186.6_Missense_Mutation_p.Q209K|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433																																						ENST00000286186.6																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(625-627)Caa>Aaa		caspase 10, apoptosis-related cysteine peptidase							225.0	210.0	215.0					2																	202060612		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202060612C>A	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.625C>A	2.37:g.202060612C>A	ENSP00000272879:p.Gln209Lys					CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K|CASP10_ENST00000272879.5_Missense_Mutation_p.Q209K|CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR	p.Q209K	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN			5	1060	+			209					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.625C>A	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507895	0.27036	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.44083	4.5;0.93;4.42;0.94;4.45;4.17;4.39	3.42	2.52	0.30459	.	1.988590	0.02064	N	0.051008	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B;B;B;B;B;P	0.37781	0.009;0.023;0.085;0.148;0.006;0.608	B;B;B;B;B;B	0.27380	0.009;0.013;0.01;0.053;0.006;0.079	T	0.23368	-1.0190	10	0.05351	T	0.99	.	8.9003	0.35490	0.0:0.7725:0.2275:0.0	.	209;209;209;209;209;209	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	K	209	ENSP00000286186:Q209K;ENSP00000353250:Q209K;ENSP00000272879:Q209K;ENSP00000363781:Q209K;ENSP00000237865:Q209K;ENSP00000314599:Q209K;ENSP00000396835:Q209K	ENSP00000272879:Q209K	Q	+	1	0	CASP10	201768857	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.171000	0.31896	0.992000	0.38840	0.655000	0.94253	CAA		0.433	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		260	770	1	0	5.30575e-70	1	6.48285e-70	260	770				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	497	0	0	0	1	0	6	497				
ANTXR1	84168	broad.mit.edu	37	2	69379378	69379378	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:69379378G>T	ENST00000303714.4	+	13	1351	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	ANTXR1_ENST00000409349.3_Missense_Mutation_p.W343C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	343					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTGGTTCTGGCCCCTCTGCT	0.567									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1027-1029)tgG>tgT		anthrax toxin receptor 1							190.0	136.0	155.0					2																	69379378		2203	4300	6503	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69379378G>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1029G>T	2.37:g.69379378G>T	ENSP00000301945:p.Trp343Cys					ANTXR1_ENST00000409349.3_Missense_Mutation_p.W343C	p.W343C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			13	1351	+			343					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1029G>T	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318003	0.81469	.	.	ENSG00000169604	ENST00000303714;ENST00000409349	T;T	0.54279	0.58;1.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78674	-0.2112	10	0.87932	D	0	-9.0857	17.5025	0.87735	0.0:0.0:1.0:0.0	.	343;343	Q9H6X2;Q9H6X2-2	ANTR1_HUMAN;.	C	343	ENSP00000301945:W343C;ENSP00000386494:W343C	ENSP00000301945:W343C	W	+	3	0	ANTXR1	69232882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.206000	0.95056	2.731000	0.93534	0.655000	0.94253	TGG		0.567	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		7	431	1	0	5.18039e-06	1	5.68918e-06	7	431				
NF1	4763	broad.mit.edu	37	17	29687570	29687570	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:29687570C>G	ENST00000358273.4	+	57	8609	c.8226C>G	c.(8224-8226)taC>taG	p.Y2742*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*|NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2742					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACACGTACCTGCCTGGAA	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8224-8226)taC>taG		neurofibromin 1							175.0	167.0	169.0					17																	29687570		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29687570C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8226C>G	17.37:g.29687570C>G	ENSP00000351015:p.Tyr2742*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*	p.Y2742*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	57	8609	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2742					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.8226C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271494	0.80469	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.27	3.11	0.35812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	6.5522	0.22440	0.0:0.387:0.0:0.613	.	.	.	.	X	2742;2721;2387;535	.	ENSP00000348498:Y2721X	Y	+	3	2	NF1	26711696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.829000	0.39121	1.014000	0.39417	0.655000	0.94253	TAC		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		109	141	0	0	0	1	0	109	141				
CCDC47	57003	broad.mit.edu	37	17	61843526	61843526	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:61843526A>T	ENST00000225726.5	-	2	392	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	CCDC47_ENST00000582252.1_Missense_Mutation_p.F4I|CCDC47_ENST00000403162.3_Missense_Mutation_p.F4I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	4					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAAGTGTGGAAGGCTTTCATT	0.363																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(10-12)Ttc>Atc		coiled-coil domain containing 47							96.0	90.0	92.0					17																	61843526		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61843526A>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.10T>A	17.37:g.61843526A>T	ENSP00000225726:p.Phe4Ile					CCDC47_ENST00000582252.1_Missense_Mutation_p.F4I|CCDC47_ENST00000403162.3_Missense_Mutation_p.F4I	p.F4I	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			2	392	-			4					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.10T>A	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048861	0.36181	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	4.92	-1.48	0.08745	.	0.377447	0.30269	N	0.010011	T	0.15349	0.0370	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08827	-1.0703	9	0.20519	T	0.43	0.2526	0.8221	0.01113	0.4648:0.1309:0.1508:0.2535	.	4;4	Q96A33-2;Q96A33	.;CCD47_HUMAN	I	4	.	ENSP00000225726:F4I	F	-	1	0	CCDC47	59197258	0.000000	0.05858	0.745000	0.31077	0.964000	0.63967	-0.247000	0.08866	-0.162000	0.10964	0.416000	0.27883	TTC		0.363	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		5	185	0	0	0	1	0	5	185				
ATN1	1822	broad.mit.edu	37	12	7043425	7043425	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:7043425C>T	ENST00000356654.4	+	3	351	c.114C>T	c.(112-114)gtC>gtT	p.V38V	ATN1_ENST00000396684.2_Silent_p.V38V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	38					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTGGAGGGGTCAGCACGTCCA	0.617																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(112-114)gtC>gtT		atrophin 1							57.0	61.0	60.0					12																	7043425		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7043425C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.114C>T	12.37:g.7043425C>T						ATN1_ENST00000396684.2_Silent_p.V38V	p.V38V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			3	351	+			38					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.114C>T	CCDS31734.1																																																																																				0.617	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		5	518	0	0	0	1	0	5	518				
KIAA0226L	80183	broad.mit.edu	37	13	46917575	46917575	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:46917575G>A	ENST00000429979.1	-	15	2538	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A645V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A578V|KIAA0226L_ENST00000378797.2_Nonsense_Mutation_p.R594*|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A510V|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.R594*	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	645										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TGTGATCCTCGCACACCGGGG	0.517																																						ENST00000378797.2																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1780-1782)Cga>Tga		KIAA0226-like							83.0	74.0	77.0					13																	46917575		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46917575G>A	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1934C>T	13.37:g.46917575G>A	ENSP00000396935:p.Ala645Val					KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A488V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A510V|KIAA0226L_ENST00000429979.1_Missense_Mutation_p.A645V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A578V|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A488V|KIAA0226L_ENST00000378787.3_Nonsense_Mutation_p.R594*|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A645V|KIAA0226L_ENST00000378781.3_3'UTR	p.R594*			Q9H714	CM018_HUMAN			14	2384	-			0					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Nonsense_Mutation	SNP	ENST00000429979.1	37	c.1780C>T	CCDS31970.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.985868|6.985868	0.97983|0.97983	.|.	.|.	ENSG00000102445|ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925|ENST00000378797;ENST00000378787	T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.84|.	5.55|5.55	-2.2|-2.2	0.06994|0.06994	.|.	.|2.102030	.|0.02513	.|N	.|0.091693	T|.	0.21801|.	0.0525|.	N|N	0.25426|0.25426	0.745|0.745	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.15930|.	0.004;0.004;0.015;0.003;0.003|.	B;B;B;B;B|.	0.14578|.	0.009;0.009;0.009;0.011;0.006|.	T|.	0.08953|.	-1.0697|.	9|.	0.31617|0.10636	T|T	0.26|0.68	-2.9288|-2.9288	5.1669|5.1669	0.15090|0.15090	0.5396:0.0:0.216:0.2444|0.5396:0.0:0.216:0.2444	.|.	488;488;645;510;578|.	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3|.	.;.;K226L_HUMAN;.;.|.	V|X	645;578;645;488;488;510|594	ENSP00000396935:A645V;ENSP00000368061:A578V;ENSP00000374558:A645V;ENSP00000437501:A510V|.	ENSP00000315633:A488V|ENSP00000368064:R594X	A|R	-|-	2|1	0|2	KIAA0226L|KIAA0226L	45815576|45815576	0.003000|0.003000	0.15002|0.15002	0.013000|0.013000	0.15412|0.15412	0.001000|0.001000	0.01503|0.01503	0.404000|0.404000	0.20999|0.20999	-0.141000|-0.141000	0.11374|0.11374	-1.871000|-1.871000	0.00553|0.00553	GCG|CGA		0.517	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		4	222	0	0	0	1	0	4	222				
RNF20	56254	broad.mit.edu	37	9	104312929	104312929	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:104312929T>C	ENST00000389120.3	+	10	1224	c.1134T>C	c.(1132-1134)acT>acC	p.T378T	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	378					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TTAAGGAAACTCCAGAATATC	0.507																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1132-1134)acT>acC		ring finger protein 20, E3 ubiquitin protein ligase							199.0	190.0	193.0					9																	104312929		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104312929T>C	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1134T>C	9.37:g.104312929T>C							p.T378T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	10	1224	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	378					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1134T>C	CCDS35084.1																																																																																				0.507	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		5	380	0	0	0	1	0	5	380				
GRHL3	57822	broad.mit.edu	37	1	24674000	24674000	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:24674000C>A	ENST00000350501.5	+	14	1713	c.1586C>A	c.(1585-1587)gCg>gAg	p.A529E	GRHL3_ENST00000361548.4_Missense_Mutation_p.A529E|GRHL3_ENST00000236255.4_Missense_Mutation_p.A534E|GRHL3_ENST00000356046.2_Missense_Mutation_p.A483E|GRHL3_ENST00000342072.4_Missense_Mutation_p.A436E	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	529					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTGTTTGACGCGCTCATGTTG	0.577																																						ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1585-1587)gCg>gAg		grainyhead-like 3 (Drosophila)							181.0	167.0	171.0					1																	24674000		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24674000C>A	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1586C>A	1.37:g.24674000C>A	ENSP00000288955:p.Ala529Glu					GRHL3_ENST00000356046.2_Missense_Mutation_p.A483E|GRHL3_ENST00000350501.5_Missense_Mutation_p.A529E|GRHL3_ENST00000342072.4_Missense_Mutation_p.A436E|GRHL3_ENST00000236255.4_Missense_Mutation_p.A534E	p.A529E	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	14	1816	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	529					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1586C>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001855	0.93227	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19105	2.32;2.17;2.29;2.33;2.31	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.15723	-1.0427	10	0.59425	D	0.04	-40.0556	18.664	0.91481	0.0:1.0:0.0:0.0	.	483;534;529	A2A297;Q8TE85-2;G3XAF0	.;.;.	E	529;436;529;483;534	ENSP00000354943:A529E;ENSP00000340543:A436E;ENSP00000288955:A529E;ENSP00000348333:A483E;ENSP00000236255:A534E	ENSP00000236255:A534E	A	+	2	0	GRHL3	24546587	1.000000	0.71417	0.983000	0.44433	0.763000	0.43281	7.487000	0.81328	2.657000	0.90304	0.591000	0.81541	GCG		0.577	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		4	80	1	0	0.00024832	1	0.000265594	4	80				
RNASE4	6038	broad.mit.edu	37	14	21167618	21167618	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:21167618G>A	ENST00000555835.1	+	2	764	c.88G>A	c.(88-90)Gat>Aat	p.D30N	RNASE4_ENST00000555597.1_Missense_Mutation_p.D30N|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000304704.4_Missense_Mutation_p.D30N|RNASE4_ENST00000397995.2_Missense_Mutation_p.D30N	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	30					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		CTATGGCCAGGATGGCATGTA	0.562																																					Esophageal Squamous(59;1059 1362 26290 51151)	ENST00000555835.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(88-90)Gat>Aat		ribonuclease, RNase A family, 4							103.0	94.0	97.0					14																	21167618		2203	4300	6503	SO:0001583	missense	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167618G>A	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.88G>A	14.37:g.21167618G>A	ENSP00000452245:p.Asp30Asn					AL163636.6_ENST00000553909.1_RNA|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000304704.4_Missense_Mutation_p.D30N|RNASE4_ENST00000555597.1_Missense_Mutation_p.D30N|RNASE4_ENST00000397995.2_Missense_Mutation_p.D30N	p.D30N	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	764	+	all_cancers(95;0.00304)		30						Missense_Mutation	SNP	ENST00000555835.1	37	c.88G>A	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986888	0.18889	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.73	-4.02	0.04034	Ribonuclease A, domain (3);	1.190040	0.05719	N	0.597260	T	0.67287	0.2877	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.50048	-0.8873	10	0.46703	T	0.11	0.0921	3.4037	0.07333	0.4568:0.1052:0.3311:0.1068	.	30	P34096	RNAS4_HUMAN	N	30	ENSP00000452245:D30N;ENSP00000381081:D30N;ENSP00000451624:D30N;ENSP00000381087:D30N;ENSP00000307096:D30N;ENSP00000381085:D30N	ENSP00000307096:D30N	D	+	1	0	AL163636.2;RNASE4	20237458	0.003000	0.15002	0.001000	0.08648	0.204000	0.24138	-0.404000	0.07205	-0.911000	0.03843	-2.053000	0.00404	GAT		0.562	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			6	354	0	0	0	1	0	6	354				
RUFY1	80230	broad.mit.edu	37	5	179004074	179004074	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:179004074A>T	ENST00000319449.4	+	6	840		c.e6-1		RUFY1_ENST00000437570.2_Splice_Site|RUFY1_ENST00000377001.2_Splice_Site|RUFY1_ENST00000393438.2_Splice_Site	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1						endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTCGTTTAGGTTGGAGTA	0.313										HNSCC(44;0.11)																												ENST00000377001.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.e6-1		RUN and FYVE domain containing 1							167.0	158.0	161.0					5																	179004074		2203	4300	6503	SO:0001630	splice_region_variant	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179004074A>T	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.829-1A>T	5.37:g.179004074A>T		HNSCC(44;0.11)				RUFY1_ENST00000437570.2_Splice_Site|RUFY1_ENST00000319449.4_Splice_Site|RUFY1_ENST00000393438.2_Splice_Site				Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	828	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)						Q59FF3|Q71S93|Q9H6I3	Splice_Site	SNP	ENST00000319449.4	37		CCDS4445.2	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768126	0.31320	.	.	ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438;ENST00000508609	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4748	0.75468	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUFY1	178936680	1.000000	0.71417	0.948000	0.38648	0.154000	0.21943	8.427000	0.90275	2.131000	0.65755	0.525000	0.51046	.		0.313	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451	Intron	5	161	0	0	0	1	0	5	161				
DNAH3	55567	broad.mit.edu	37	16	21123085	21123085	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:21123085G>T	ENST00000261383.3	-	14	1960	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	654	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S654C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGTTCATGGATGCAATTTC	0.458																																						ENST00000261383.3																			2	Substitution - Missense(2)	p.S654C(2)	upper_aerodigestive_tract(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1960-1962)tCc>tAc		dynein, axonemal, heavy chain 3							169.0	130.0	143.0					16																	21123085		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21123085G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1961C>A	16.37:g.21123085G>T	ENSP00000261383:p.Ser654Tyr					DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	14	1960	-			654			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1961C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	5.790	0.330002	0.10956	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.24151	1.87;2.02	5.62	5.62	0.85841	.	0.000000	0.43919	D	0.000516	T	0.43590	0.1254	L	0.58810	1.83	0.53688	D	0.999979	B;D	0.53151	0.046;0.958	B;P	0.56163	0.011;0.793	T	0.12502	-1.0545	10	0.46703	T	0.11	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	654;594	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Y	654;654;594	ENSP00000261383:S654Y;ENSP00000394245:S654Y	ENSP00000261383:S654Y	S	-	2	0	DNAH3	21030586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.781000	0.62389	2.652000	0.90054	0.585000	0.79938	TCC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		69	124	1	0	5.12816e-46	1	6.16381e-46	69	124				
GALNT3	2591	broad.mit.edu	37	2	166611170	166611170	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:166611170A>T	ENST00000392701.3	-	9	2368	c.1593T>A	c.(1591-1593)atT>atA	p.I531I	GALNT3_ENST00000409882.1_Silent_p.I269I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	531	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTATACATAATTAATGGTT	0.368																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1591-1593)atT>atA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							100.0	95.0	97.0					2																	166611170		2203	4300	6503	SO:0001819	synonymous_variant	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166611170A>T		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1593T>A	2.37:g.166611170A>T						GALNT3_ENST00000409882.1_Silent_p.I269I	p.I531I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			9	2368	-			531			Ricin B-type lectin.		Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	c.1593T>A	CCDS2226.1																																																																																				0.368	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		31	64	0	0	0	1	0	31	64				
IFNA21	3452	broad.mit.edu	37	9	21166058	21166058	+	Nonsense_Mutation	SNP	A	A	T	rs142245609		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:21166058A>T	ENST00000380225.1	-	1	601	c.554T>A	c.(553-555)tTa>tAa	p.L185*		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	185					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTTCCTCCTTAATCTTTCTTG	0.378																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(553-555)tTa>tAa		interferon, alpha 21		A	stop/LEU	0,4406		0,0,2203	132.0	131.0	131.0		554	1.4	0.0	9	dbSNP_134	131	1,8599		0,1,4299	no	stop-gained	IFNA21	NM_002175.2		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		185/190	21166058	1,13005	2203	4300	6503	SO:0001587	stop_gained	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166058A>T		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.554T>A	9.37:g.21166058A>T	ENSP00000369574:p.Leu185*						p.L185*	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	601	-			185					Q14608|Q5VWD1|Q7M4Q4	Nonsense_Mutation	SNP	ENST00000380225.1	37	c.554T>A	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	13.62	2.292102	0.40594	0.0	1.16E-4	ENSG00000137080	ENST00000380225	.	.	.	3.8	1.35	0.21983	.	0.420067	0.20233	N	0.096447	.	.	.	.	.	.	0.21105	N	0.999781	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.4877	0.04602	0.5107:0.2868:0.2025:0.0	.	.	.	.	X	185	.	ENSP00000369574:L185X	L	-	2	0	IFNA21	21156058	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.060000	0.14342	0.522000	0.28464	0.524000	0.50904	TTA		0.378	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		4	146	0	0	0	1	0	4	146				
ATP13A5	344905	broad.mit.edu	37	3	193068950	193068950	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:193068950G>A	ENST00000342358.4	-	7	764	c.647C>T	c.(646-648)aCt>aTt	p.T216I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	216						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCCACAAAGTTAGGGTGAA	0.403																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(646-648)aCt>aTt		ATPase type 13A5							139.0	130.0	133.0					3																	193068950		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193068950G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.647C>T	3.37:g.193068950G>A	ENSP00000341942:p.Thr216Ile						p.T216I	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	7	764	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		216					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.647C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.729	0.916293	0.17907	.	.	ENSG00000187527	ENST00000342358	D	0.86497	-2.13	5.26	3.47	0.39725	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.265069	0.32836	N	0.005585	T	0.67382	0.2887	N	0.03304	-0.355	0.37294	D	0.908387	B	0.28258	0.205	B	0.35114	0.196	T	0.62784	-0.6781	10	0.02654	T	1	-1.7452	5.7714	0.18255	0.1742:0.1601:0.6656:0.0	.	216	Q4VNC0	AT135_HUMAN	I	216	ENSP00000341942:T216I	ENSP00000341942:T216I	T	-	2	0	ATP13A5	194551644	0.214000	0.23563	0.979000	0.43373	0.951000	0.60555	1.130000	0.31393	0.732000	0.32470	-0.136000	0.14681	ACT		0.403	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		31	254	0	0	0	1	0	31	254				
HSPA12A	259217	broad.mit.edu	37	10	118434631	118434631	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:118434631C>G	ENST00000369209.3	-	12	1793	c.1689G>C	c.(1687-1689)tgG>tgC	p.W563C	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	563						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGTCGGTGCACCACCGAGTGC	0.642																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1687-1689)tgG>tgC		heat shock 70kDa protein 12A							47.0	54.0	52.0					10																	118434631		2132	4226	6358	SO:0001583	missense	259217						ATP binding	g.chr10:118434631C>G	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1689G>C	10.37:g.118434631C>G	ENSP00000358211:p.Trp563Cys						p.W563C	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1793	-			563						Missense_Mutation	SNP	ENST00000369209.3	37	c.1689G>C	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283595	0.80803	.	.	ENSG00000165868	ENST00000369209	T	0.46063	0.88	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69331	-0.5173	10	0.66056	D	0.02	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	563	O43301	HS12A_HUMAN	C	563	ENSP00000358211:W563C	ENSP00000358211:W563C	W	-	3	0	HSPA12A	118424621	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	TGG		0.642	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		57	27	0	0	0	1	0	57	27				
RBBP6	5930	broad.mit.edu	37	16	24583108	24583108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:24583108T>A	ENST00000319715.4	+	18	5153	c.4721T>A	c.(4720-4722)tTa>tAa	p.L1574*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L1540*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.L734*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1574					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGCATGTATTAGAAGCAAGG	0.358																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4720-4722)tTa>tAa		retinoblastoma binding protein 6							72.0	69.0	70.0					16																	24583108		2197	4299	6496	SO:0001587	stop_gained	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583108T>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4721T>A	16.37:g.24583108T>A	ENSP00000317872:p.Leu1574*					RBBP6_ENST00000348022.2_Nonsense_Mutation_p.L1540*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.L734*	p.L1574*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5153	+			1574					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	ENST00000319715.4	37	c.4721T>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886526	0.91814	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	.	.	.	5.93	-0.994	0.10225	.	0.832999	0.10441	N	0.674336	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.155	12.0126	0.53297	0.0:0.671:0.0:0.329	.	.	.	.	X	734;1574;1540	.	ENSP00000317872:L1574X	L	+	2	0	RBBP6	24490609	0.000000	0.05858	0.115000	0.21578	0.974000	0.67602	0.315000	0.19451	-0.146000	0.11274	0.455000	0.32223	TTA		0.358	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		4	146	0	0	0	1	0	4	146				
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e12-1		retinoic acid induced 14							103.0	93.0	96.0					5																	34814686		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814686A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.853-1A>T	5.37:g.34814686A>T						RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			12	1139	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147539	0.77888	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34850443	1.000000	0.71417	0.989000	0.46669	0.830000	0.47004	6.041000	0.70988	2.367000	0.80283	0.528000	0.53228	.		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	4	54	0	0	0	1	0	4	54				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			55073							g.chr17:43587657C>T	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.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	49	0	0	0	1	0	3	49				
TAF1L	138474	broad.mit.edu	37	9	32632561	32632561	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:32632561G>A	ENST00000242310.4	-	1	3106	c.3017C>T	c.(3016-3018)aCa>aTa	p.T1006I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1006					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTGTCACTGTCTTCTTCAC	0.453																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3016-3018)aCa>aTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							266.0	243.0	250.0					9																	32632561		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632561G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3017C>T	9.37:g.32632561G>A	ENSP00000418379:p.Thr1006Ile						p.T1006I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3106	-			1006					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3017C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251161	0.59212	.	.	ENSG00000122728	ENST00000242310	T	0.14266	2.52	0.479	0.479	0.16796	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.045544	0.85682	D	0.000000	T	0.12178	0.0296	L	0.45744	1.44	0.50039	D	0.999848	P	0.46859	0.885	B	0.44224	0.444	T	0.07214	-1.0784	10	0.45353	T	0.12	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1006	Q8IZX4	TAF1L_HUMAN	I	1006	ENSP00000418379:T1006I	ENSP00000418379:T1006I	T	-	2	0	TAF1L	32622561	1.000000	0.71417	0.985000	0.45067	0.687000	0.40016	4.441000	0.59981	0.507000	0.28148	0.195000	0.17529	ACA		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			13	439	0	0	0	1	0	13	439				
ARNTL	406	broad.mit.edu	37	11	13375946	13375946	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:13375946A>G	ENST00000403290.1	+	5	446	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|RN7SKP151_ENST00000410230.1_RNA|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000389708.3_Missense_Mutation_p.S31G			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	31					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTTGGTACCAGTGGTGTGGA	0.512																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(91-93)Agt>Ggt		aryl hydrocarbon receptor nuclear translocator-like							87.0	75.0	79.0					11																	13375946		2200	4294	6494	SO:0001583	missense	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13375946A>G	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.91A>G	11.37:g.13375946A>G	ENSP00000384517:p.Ser31Gly					ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403290.1_Missense_Mutation_p.S31G|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G	p.S31G			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	5	446	+			31					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37	c.91A>G		.	.	.	.	.	.	.	.	.	.	A	8.949	0.967792	0.18659	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000389707;ENST00000529388;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000531665	T;T;T;T;T;T	0.46063	3.08;3.08;0.88;3.08;2.72;3.05	5.71	0.571	0.17352	.	0.430351	0.27866	N	0.017527	T	0.18299	0.0439	N	0.12182	0.205	0.23126	N	0.998257	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15206	-1.0445	9	.	.	.	.	4.5732	0.12219	0.5026:0.0:0.329:0.1684	.	31;31	O00327;O00327-8	BMAL1_HUMAN;.	G	31	ENSP00000379718:S31G;ENSP00000374357:S31G;ENSP00000433571:S31G;ENSP00000384517:S31G;ENSP00000354278:S31G;ENSP00000374358:S31G	.	S	+	1	0	ARNTL	13332522	0.976000	0.34144	0.237000	0.24090	0.606000	0.37113	0.492000	0.22435	-0.140000	0.11394	0.533000	0.62120	AGT		0.512	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		53	205	0	0	0	1	0	53	205				
DMXL2	23312	broad.mit.edu	37	15	51791649	51791649	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:51791649C>G	ENST00000251076.5	-	18	4059	c.3772G>C	c.(3772-3774)Ggg>Cgg	p.G1258R	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1258						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.G1258W(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCAATATCCCATCTCTTACC	0.413																																						ENST00000251076.5																			1	Substitution - Missense(1)	p.G1258W(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3772-3774)Ggg>Cgg		Dmx-like 2							182.0	168.0	173.0					15																	51791649		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791649C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3772G>C	15.37:g.51791649C>G	ENSP00000251076:p.Gly1258Arg					DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R|DMXL2_ENST00000449909.3_Intron	p.G1258R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	4059	-			1258					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3772G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056144	0.76074	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.52983	0.64;0.64	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75915	-0.3149	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	1258;1258	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	R	1258	ENSP00000251076:G1258R;ENSP00000441858:G1258R	ENSP00000251076:G1258R	G	-	1	0	DMXL2	49578941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.588000	0.87417	0.591000	0.81541	GGG		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		237	176	0	0	0	1	0	237	176				
KCNB2	9312	broad.mit.edu	37	8	73849825	73849825	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:73849825G>T	ENST00000523207.1	+	3	2823	c.2235G>T	c.(2233-2235)tcG>tcT	p.S745S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTGACTTTTCGCTCACTACCC	0.567																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2233-2235)tcG>tcT		potassium voltage-gated channel, Shab-related subfamily, member 2							107.0	114.0	111.0					8																	73849825		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849825G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2235G>T	8.37:g.73849825G>T							p.S745S	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2823	+	Breast(64;0.137)		745					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.2235G>T	CCDS6209.1																																																																																				0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		5	262	1	0	3.59834e-05	1	3.90525e-05	5	262				
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667																																						ENST00000394014.1																			2	Substitution - coding silent(2)	p.C96C(2)	large_intestine(1)|endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(286-288)tgC>tgT		keratin associated protein 4-12							31.0	36.0	34.0					17																	39280087		2139	4174	6313	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39280087G>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.288C>T	17.37:g.39280087G>A							p.C96C	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	332	-		Breast(137;0.000496)	96			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.288C>T	CCDS32649.1																																																																																				0.667	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			4	113	0	0	0	1	0	4	113				
ZNF451	26036	broad.mit.edu	37	6	57013213	57013213	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:57013213A>C	ENST00000370706.4	+	10	2574	c.2330A>C	c.(2329-2331)aAa>aCa	p.K777T	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAGTGCACAAAGAAAAGAGT	0.438																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aAa>aCa		zinc finger protein 451							99.0	89.0	92.0					6																	57013213		2202	4300	6502	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013213A>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2330A>C	6.37:g.57013213A>C	ENSP00000359740:p.Lys777Thr					RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T	p.K777T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2574	+	Lung NSC(77;0.145)		777					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2330A>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	7.320	0.616782	0.14129	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18338	3.27;2.22;3.27	4.91	-1.76	0.08006	.	1.531430	0.03335	N	0.193965	T	0.03011	0.0089	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.36696	-0.9737	10	0.21014	T	0.42	1.0669	0.2367	0.00187	0.2785:0.2679:0.1511:0.3025	.	777;777;777;777	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	T	777	ENSP00000359740:K777T;ENSP00000350083:K777T;ENSP00000421645:K777T	ENSP00000350083:K777T	K	+	2	0	ZNF451	57121172	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-0.235000	0.09016	-0.136000	0.11475	0.528000	0.53228	AAA		0.438	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		12	38	0	0	0	1	0	12	38				
OR2A25	392138	broad.mit.edu	37	7	143771624	143771624	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:143771624G>T	ENST00000408898.2	+	1	350	c.312G>T	c.(310-312)ttG>ttT	p.L104F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCTGTTTTTGAGTTTTGCAC	0.532																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(310-312)ttG>ttT		olfactory receptor, family 2, subfamily A, member 25							88.0	95.0	92.0					7																	143771624		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771624G>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.312G>T	7.37:g.143771624G>T	ENSP00000386167:p.Leu104Phe						p.L104F	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	350	+	Melanoma(164;0.0783)		104					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.312G>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286881	0.40494	.	.	ENSG00000221933	ENST00000408898	T	0.00560	6.6	4.88	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	L	0.56769	1.78	0.09310	N	0.999999	D	0.61697	0.99	P	0.58266	0.836	T	0.52109	-0.8619	9	0.52906	T	0.07	-7.1464	11.3472	0.49567	0.0899:0.0:0.9101:0.0	.	104	A4D2G3	O2A25_HUMAN	F	104	ENSP00000386167:L104F	ENSP00000386167:L104F	L	+	3	2	OR2A25	143402557	0.001000	0.12720	0.568000	0.28447	0.533000	0.34776	0.363000	0.20301	1.244000	0.43870	0.563000	0.77884	TTG		0.532	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			6	454	1	0	1.6384e-10	1	1.8432e-10	6	454				
ENHO	375704	broad.mit.edu	37	9	34521629	34521629	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:34521629A>C	ENST00000399775.2	-	2	490	c.65T>G	c.(64-66)tTg>tGg	p.L22W	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	22						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						CAGCAGCAGCAAGAAGCCCAC	0.632																																						ENST00000399775.2																			0				endometrium(1)|lung(1)	2						c.(64-66)tTg>tGg		energy homeostasis associated							49.0	65.0	60.0					9																	34521629		2193	4281	6474	SO:0001583	missense	375704					extracellular region		g.chr9:34521629A>C	BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.65T>G	9.37:g.34521629A>C	ENSP00000382675:p.Leu22Trp					RP11-296L22.8_ENST00000439960.1_RNA	p.L22W	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN			2	490	-			22					Q8N666	Missense_Mutation	SNP	ENST00000399775.2	37	c.65T>G	CCDS43795.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607487	0.46527	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	4.46	4.46	0.54185	.	0.000000	0.31542	N	0.007471	T	0.64438	0.2598	.	.	.	0.26634	N	0.972413	D	0.76494	0.999	D	0.78314	0.991	T	0.58584	-0.7611	8	0.87932	D	0	.	10.0515	0.42219	1.0:0.0:0.0:0.0	.	22	Q6UWT2	ENHO_HUMAN	W	22	.	ENSP00000305955:L22W	L	-	2	0	ENHO	34511629	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.609000	0.67661	1.874000	0.54306	0.374000	0.22700	TTG		0.632	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356348.1	NM_198573		12	21	0	0	0	1	0	12	21				
AAK1	22848	broad.mit.edu	37	2	69708094	69708094	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:69708094C>A	ENST00000409085.4	-	19	2844		c.e19-1		AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCAGCTTTTTCTTTCGTAACA	0.453																																						ENST00000409085.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.e19-1		AP2 associated kinase 1							47.0	52.0	51.0					2																	69708094		1861	4097	5958	SO:0001630	splice_region_variant	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69708094C>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2468-1G>T	2.37:g.69708094C>A						AAK1_ENST00000409068.1_Intron		NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN			19	2844	-								Q4ZFZ3|Q53RX6|Q9UPV4	Splice_Site	SNP	ENST00000409085.4	37		CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921932	0.73213	.	.	ENSG00000115977	ENST00000409085	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.908	0.86133	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AAK1	69561598	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.905000	0.63286	2.463000	0.83235	0.585000	0.79938	.		0.453	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	Intron	3	39	1	0	0.115264	1	0.116527	3	39				
ZNF618	114991	broad.mit.edu	37	9	116811976	116811976	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:116811976G>A	ENST00000374126.5	+	15	2493	c.2394G>A	c.(2392-2394)gtG>gtA	p.V798V	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Silent_p.V705V			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTTCAAGGTGCACCCGGCCC	0.622																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(2113-2115)gtG>gtA		zinc finger protein 618							47.0	53.0	51.0					9																	116811976		2097	4228	6325	SO:0001819	synonymous_variant	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116811976G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2394G>A	9.37:g.116811976G>A						ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.V798V	p.V705V	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			14	2214	+			798					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37	c.2115G>A																																																																																					0.622	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		13	273	0	0	0	1	0	13	273				
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(2173-2175)Taa>Aaa		La ribonucleoprotein domain family, member 4							42.0	43.0	42.0					12																	50869645		1874	4108	5982	SO:0001578	stop_lost	113251						nucleotide binding|RNA binding	g.chr12:50869645T>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.2173T>A	12.37:g.50869645T>A	ENSP00000381490:p.*725Lysext*81					LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	p.*725K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			16	2285	+			0					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Nonstop_Mutation	SNP	ENST00000398473.2	37	c.2173T>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942821	0.53079	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.337	0.55073	0.0:0.0:0.141:0.859	.	.	.	.	K	654;731;725;724;606;654	.	.	X	+	1	0	LARP4	49155912	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.694000	0.54742	2.202000	0.70862	0.523000	0.50628	TAA		0.448	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		6	64	0	0	0	1	0	6	64				
DCTN5	84516	broad.mit.edu	37	16	23672509	23672509	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:23672509A>T	ENST00000300087.2	+	4	406	c.255A>T	c.(253-255)ttA>ttT	p.L85F	DCTN5_ENST00000563998.1_Missense_Mutation_p.L85F|DCTN5_ENST00000568589.1_Missense_Mutation_p.L85F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	85					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TCTTTCCTTTACATATTGGAG	0.383																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.(253-255)ttA>ttT		dynactin 5 (p25)							268.0	216.0	233.0					16																	23672509		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23672509A>T		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.255A>T	16.37:g.23672509A>T	ENSP00000300087:p.Leu85Phe					DCTN5_ENST00000563998.1_Missense_Mutation_p.L85F|DCTN5_ENST00000568589.1_Missense_Mutation_p.L85F	p.L85F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	406	+			85					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.255A>T	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973174	0.34848	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.87	0.882	0.19172	Trimeric LpxA-like (1);	0.130888	0.51477	D	0.000098	T	0.72851	0.3512	M	0.92649	3.33	0.80722	D	1	P	0.36616	0.561	P	0.47941	0.562	T	0.70648	-0.4814	9	0.72032	D	0.01	-12.4	5.1609	0.15060	0.613:0.144:0.243:0.0	.	85	Q9BTE1	DCTN5_HUMAN	F	85	.	ENSP00000300087:L85F	L	+	3	2	DCTN5	23580010	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.214000	0.20742	0.533000	0.62120	TTA		0.383	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		4	169	0	0	0	1	0	4	169				
SNRPB	6628	broad.mit.edu	37	20	2448399	2448399	+	Silent	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:2448399C>A	ENST00000438552.2	-	2	171	c.9G>T	c.(7-9)gtG>gtT	p.V3V	RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.G104W|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Silent_p.V3V	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	3					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCTCTTGCCCACCGTCTGCA	0.532																																						ENST00000461548.1																			0											c.(310-312)Ggg>Tgg									114.0	99.0	104.0					20																	2448399		2203	4300	6503	SO:0001819	synonymous_variant	6628							g.chr20:2448399C>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.9G>T	20.37:g.2448399C>A						SNRPB_ENST00000438552.2_Silent_p.V3V|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Silent_p.V3V	p.G104W							6	572	-								Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.310G>T	CCDS13026.1																																																																																				0.532	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			109	280	1	0	2.12867e-53	1	2.57534e-53	109	280				
SUMF2	25870	broad.mit.edu	37	7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:56142409C>T	ENST00000413756.1	+	5	538	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000434526.2_Missense_Mutation_p.A191V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(571-573)gCc>gTc		sulfatase modifying factor 2							80.0	82.0	81.0					7																	56142409		2203	4300	6503	SO:0001583	missense	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56142409C>T	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.515C>T	7.37:g.56142409C>T	ENSP00000406445:p.Ala172Val		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V	p.A191V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	603	+	Breast(14;0.214)		172					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	ENST00000413756.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.686691	0.96784	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000275607;ENST00000413952;ENST00000342190;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D	0.98968	-5.28;-5.28;-5.28;-5.28;-5.28;-5.28;-5.28	5.53	5.53	0.82687	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.951	D	0.99226	1.0880	10	0.87932	D	0	-11.665	18.8414	0.92186	0.0:1.0:0.0:0.0	.	176;172;191	A8MXB9;Q8NBJ7;F8WA42	.;SUMF2_HUMAN;.	V	176;191;84;194;191;172;189	ENSP00000378824:A176V;ENSP00000400922:A191V;ENSP00000275607:A84V;ENSP00000414434:A194V;ENSP00000341938:A191V;ENSP00000406445:A172V;ENSP00000410796:A189V	ENSP00000275607:A84V	A	+	2	0	SUMF2	56109903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.777000	0.95525	0.591000	0.81541	GCC		0.567	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		4	323	0	0	0	1	0	4	323				
SNHG14	104472715	broad.mit.edu	37	15	25417853	25417853	+	RNA	SNP	T	T	C	rs200514049	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:25417853T>C	ENST00000441592.2	+	0	0				SNORD115-3_ENST00000363100.1_RNA|SNORD115-1_ENST00000364961.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		AATAGGATTATGCTGAGGCCC	0.522													T|||	8	0.00159744	0.003	0.0043	5008	,	,		20282	0.0		0.001	False		,,,				2504	0.0					ENST00000549301.1																			0															T		2,1750		0,2,874	267.0	279.0	275.0			-1.2	0.1	15		275	4,3974		0,4,1985	no	intergenic				0,6,2859	CC,CT,TT		0.1006,0.1142,0.1047			25417853	6,5724	876	1989	2865			104472715							g.chr15:25417853T>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417853T>C						SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA								0	503	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.522	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			5	58	0	0	0	1	0	5	58				
WEE2	494551	broad.mit.edu	37	7	141429434	141429434	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:141429434C>T	ENST00000397541.2	+	11	2045	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	547					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACAAAACGCCTGGTGGGAGG	0.542																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1639-1641)Ctg>Ttg		WEE1 homolog 2 (S. pombe)							83.0	82.0	82.0					7																	141429434		1877	4115	5992	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141429434C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1639C>T	7.37:g.141429434C>T						WEE2-AS1_ENST00000488785.1_RNA	p.L547L	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			11	2045	+	Melanoma(164;0.0171)		547						Silent	SNP	ENST00000397541.2	37	c.1639C>T	CCDS43660.1																																																																																				0.542	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		7	279	0	0	0	1	0	7	279				
IFT140	9742	broad.mit.edu	37	16	1652508	1652508	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:1652508C>T	ENST00000426508.2	-	4	595	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	78					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCCCAGCCCACAGCCAGCACC	0.617																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(232-234)Gtg>Atg		intraflagellar transport 140 homolog (Chlamydomonas)							104.0	81.0	89.0					16																	1652508		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1652508C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.232G>A	16.37:g.1652508C>T	ENSP00000406012:p.Val78Met					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.V78M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			4	595	-		Hepatocellular(780;0.219)	78					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.232G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	7.566	0.665696	0.14710	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.56444	0.46;1.34	4.82	-9.65	0.00537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.078490	0.07027	N	0.827764	T	0.40145	0.1105	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.17433	0.018	T	0.37686	-0.9695	10	0.42905	T	0.14	.	12.1609	0.54103	0.0:0.6202:0.1717:0.2081	.	78	Q96RY7	IF140_HUMAN	M	78	ENSP00000380562:V78M;ENSP00000406012:V78M	ENSP00000380562:V78M	V	-	1	0	IFT140	1592509	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-2.177000	0.01261	-3.112000	0.00241	-4.347000	0.00007	GTG		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		47	107	0	0	0	1	0	47	107				
USH2A	7399	broad.mit.edu	37	1	216380760	216380760	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:216380760T>G	ENST00000307340.3	-	16	3557	c.3171A>C	c.(3169-3171)caA>caC	p.Q1057H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1057H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1057					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGCGGAGGTTGCTGGAATG	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3169-3171)caA>caC		Usher syndrome 2A (autosomal recessive, mild)							129.0	130.0	129.0					1																	216380760		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216380760T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3171A>C	1.37:g.216380760T>G	ENSP00000305941:p.Gln1057His	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1057H	p.Q1057H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	16	3557	-			1057					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3171A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630674	0.67015	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84730	-1.89;0.6;0.6	5.96	4.84	0.62591	Fibronectin, type III (1);	0.000000	0.42548	D	0.000696	D	0.91195	0.7226	M	0.82517	2.595	0.50467	D	0.999877	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.89161	0.3530	10	0.15066	T	0.55	.	12.0076	0.53268	0.0:0.0673:0.0:0.9327	.	1057;1057	O75445-2;O75445	.;USH2A_HUMAN	H	1057	ENSP00000305941:Q1057H;ENSP00000355910:Q1057H;ENSP00000355909:Q1057H	ENSP00000305941:Q1057H	Q	-	3	2	USH2A	214447383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.499000	0.35671	1.080000	0.41073	-0.256000	0.11100	CAA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		104	278	0	0	0	1	0	104	278				
ACTB	60	broad.mit.edu	37	7	5567392	5567392	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:5567392C>T	ENST00000331789.5	-	6	1306	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	372					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GAAGCATTTGCGGTGGACGAT	0.522																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(1114-1116)cGc>cAc		actin, beta							125.0	130.0	128.0					7																	5567392		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567392C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1115G>A	7.37:g.5567392C>T	ENSP00000349960:p.Arg372His					ACTB_ENST00000464611.1_5'UTR	p.R372H	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	6	1306	-		Ovarian(82;0.0606)	372					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1115G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329700	0.41297	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95238	-3.65	5.66	4.79	0.61399	.	0.000000	0.64402	D	0.000012	D	0.97607	0.9216	H	0.94658	3.565	0.43435	D	0.995601	P	0.50819	0.939	P	0.60345	0.873	D	0.98327	1.0531	10	0.87932	D	0	.	13.7298	0.62781	0.0:0.9263:0.0:0.0737	.	372	P60709	ACTB_HUMAN	H	372;348;344;291	ENSP00000349960:R372H	ENSP00000440549:R291H	R	-	2	0	ACTB	5533918	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.536000	0.82023	1.418000	0.47098	-0.141000	0.14075	CGC		0.522	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		5	888	0	0	0	1	0	5	888				
CSPG5	10675	broad.mit.edu	37	3	47618421	47618421	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGCCGTTATGCCGCACAAAGC	0.627																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)cgG>cgA		chondroitin sulfate proteoglycan 5 (neuroglycan C)							94.0	97.0	96.0					3																	47618421		2203	4299	6502	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618421C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1095G>A	3.37:g.47618421C>T						CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000456150.1_Silent_p.R227R	p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3193	-			365					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1095G>A	CCDS56253.1																																																																																				0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		4	77	0	0	0	1	0	4	77				
ABCA13	154664	broad.mit.edu	37	7	48269420	48269420	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:48269420A>T	ENST00000435803.1	+	7	656		c.e7-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						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						TTTTGGTTCTAGTTCCTTAAT	0.398																																						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.e7-1		ATP-binding cassette, sub-family A (ABC1), member 13							164.0	166.0	165.0					7																	48269420		1870	4103	5973	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48269420A>T	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.633-1A>T	7.37:g.48269420A>T								NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			7	656	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590645	0.66219	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3816	0.55309	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48239966	0.994000	0.37717	0.086000	0.20670	0.945000	0.59286	4.593000	0.61034	2.182000	0.69389	0.533000	0.62120	.		0.398	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	5	410	0	0	0	1	0	5	410				
LRRK2	120892	broad.mit.edu	37	12	40677921	40677921	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:40677921T>A	ENST00000298910.7	+	19	2544	c.2486T>A	c.(2485-2487)tTa>tAa	p.L829*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.L829*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	829					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTTCTAATTTAAGGAAACAA	0.318																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2485-2487)tTa>tAa		leucine-rich repeat kinase 2							76.0	83.0	81.0					12																	40677921		2203	4300	6503	SO:0001587	stop_gained	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40677921T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2486T>A	12.37:g.40677921T>A	ENSP00000298910:p.Leu829*					LRRK2_ENST00000343742.2_Nonsense_Mutation_p.L829*	p.L829*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			19	2544	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	829					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.2486T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	36	5.635112	0.96682	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.05	2.56	0.30785	.	0.644172	0.15272	N	0.271163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3198	0.32121	0.0:0.2795:0.0:0.7205	.	.	.	.	X	829	.	.	L	+	2	0	LRRK2	38964188	1.000000	0.71417	0.188000	0.23233	0.677000	0.39632	2.243000	0.43115	0.305000	0.22832	0.482000	0.46254	TTA		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		5	112	0	0	0	1	0	5	112				
NAV2	89797	broad.mit.edu	37	11	19955432	19955432	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:19955432A>G	ENST00000396087.3	+	8	1810	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	NAV2_ENST00000360655.4_Missense_Mutation_p.K484E|NAV2_ENST00000527559.2_Missense_Mutation_p.K500E|NAV2_ENST00000396085.1_Missense_Mutation_p.K548E|NAV2_ENST00000540292.1_Missense_Mutation_p.K502E|NAV2_ENST00000349880.4_Missense_Mutation_p.K548E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	571					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAAAGGGGGGAAGCTCAACAG	0.562																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1642-1644)Aag>Gag		neuron navigator 2							74.0	82.0	79.0					11																	19955432		2197	4291	6488	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955432A>G	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1711A>G	11.37:g.19955432A>G	ENSP00000379396:p.Lys571Glu					NAV2_ENST00000540292.1_Missense_Mutation_p.K502E|NAV2_ENST00000396087.3_Missense_Mutation_p.K571E|NAV2_ENST00000349880.4_Missense_Mutation_p.K548E|NAV2_ENST00000527559.2_Missense_Mutation_p.K500E|NAV2_ENST00000360655.4_Missense_Mutation_p.K484E	p.K548E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	2003	+			571					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.1642A>G	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466240	0.84425	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.51346	0.1669	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.993;0.997	T	0.48747	-0.9008	9	.	.	.	.	15.0021	0.71483	1.0:0.0:0.0:0.0	.	548;484	Q8IVL1-3;Q8IVL1-4	.;.	E	484;548;548;571;500;502	ENSP00000353871:K484E;ENSP00000379394:K548E;ENSP00000309577:K548E;ENSP00000379396:K571E;ENSP00000435395:K500E;ENSP00000443489:K502E	.	K	+	1	0	NAV2	19912008	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.327000	0.96396	1.943000	0.56356	0.379000	0.24179	AAG		0.562	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	375	0	0	0	1	0	3	375				
GALNT14	79623	broad.mit.edu	37	2	31152299	31152299	+	Silent	SNP	G	G	A	rs147474295		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:31152299G>A	ENST00000349752.5	-	11	1752	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	GALNT14_ENST00000406653.1_Silent_p.Y351Y|GALNT14_ENST00000356174.3_Silent_p.Y338Y|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.Y336Y|GALNT14_ENST00000324589.5_Silent_p.Y376Y	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	371					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCCGGGCAGCGTAATAGTATT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20610	0.0		0.001	False		,,,				2504	0.0					ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1111-1113)taC>taT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)		G		1,4405	2.1+/-5.4	0,1,2202	154.0	132.0	139.0		1113	-3.1	0.9	2	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GALNT14	NM_024572.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		371/553	31152299	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31152299G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1113C>T	2.37:g.31152299G>A						GALNT14_ENST00000406653.1_Silent_p.Y351Y|GALNT14_ENST00000356174.3_Silent_p.Y338Y|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.Y376Y|GALNT14_ENST00000420311.2_Silent_p.Y336Y	p.Y371Y	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			11	1752	-	Acute lymphoblastic leukemia(172;0.155)		371					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.1113C>T	CCDS1773.2																																																																																				0.552	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		4	360	0	0	0	1	0	4	360				
MAP2K7	5609	broad.mit.edu	37	19	7977212	7977212	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:7977212C>A	ENST00000397979.3	+	11	1210	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	MAP2K7_ENST00000545011.1_Missense_Mutation_p.L428M|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	386	DVD domain.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CTACGAGACGCTGGAGGTGGA	0.652																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(1282-1284)Ctg>Atg		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						54.0	66.0	62.0					19																	7977212		2157	4245	6402	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7977212C>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1156C>A	19.37:g.7977212C>A	ENSP00000381066:p.Leu386Met					MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000397979.3_Missense_Mutation_p.L386M|MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M	p.L428M			O14733	MP2K7_HUMAN			11	1347	+			386					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.1282C>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556650	0.45487	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.71341	-0.43;-0.56;-0.51;-0.56	4.54	3.47	0.39725	Protein kinase-like domain (1);	0.332170	0.25708	N	0.028825	T	0.52980	0.1768	N	0.14661	0.345	0.21579	N	0.999631	P;P	0.41102	0.738;0.62	B;B	0.43889	0.435;0.252	T	0.46952	-0.9154	10	0.51188	T	0.08	-8.1728	5.8257	0.18552	0.1906:0.7091:0.0:0.1003	.	393;386	O14733-4;O14733	.;MP2K7_HUMAN	M	393;402;428;402;386	ENSP00000381068:L393M;ENSP00000381070:L402M;ENSP00000443946:L428M;ENSP00000381066:L386M	ENSP00000381066:L386M	L	+	1	2	MAP2K7	7883212	0.727000	0.28069	0.988000	0.46212	0.672000	0.39443	0.911000	0.28584	2.356000	0.79943	0.511000	0.50034	CTG		0.652	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			13	23	1	0	0.0931896	1	0.0947299	13	23				
APAF1	317	broad.mit.edu	37	12	99100261	99100261	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:99100261A>T	ENST00000551964.1	+	19	3331		c.e19-1		APAF1_ENST00000549007.1_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Splice_Site|APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000339433.3_Splice_Site	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTTATTCTGTAGTTGTGGAAT	0.368																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.e18-1		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						223.0	190.0	201.0					12																	99100261		2203	4300	6503	SO:0001630	splice_region_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99100261A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2596-1A>T	12.37:g.99100261A>T						APAF1_ENST00000547045.1_Splice_Site|APAF1_ENST00000359972.2_Splice_Site|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Splice_Site|APAF1_ENST00000550527.1_Splice_Site|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Splice_Site|APAF1_ENST00000549007.1_Splice_Site		NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			18	3043	+								B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Splice_Site	SNP	ENST00000551964.1	37		CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.830667	0.32329	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8352	0.63404	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APAF1	97624392	1.000000	0.71417	0.992000	0.48379	0.170000	0.22686	7.302000	0.78861	1.912000	0.55364	0.533000	0.62120	.		0.368	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	Intron	8	483	0	0	0	1	0	8	483				
MFSD6	54842	broad.mit.edu	37	2	191301590	191301590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:191301590T>C	ENST00000392328.1	+	3	1159	c.835T>C	c.(835-837)Tat>Cat	p.Y279H	MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	279					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATGCTTGTTTATGATCAACA	0.428																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(835-837)Tat>Cat		major facilitator superfamily domain containing 6							242.0	227.0	232.0					2																	191301590		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301590T>C		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.835T>C	2.37:g.191301590T>C	ENSP00000376141:p.Tyr279His					MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1159	+			279					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.835T>C	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150078	0.57151	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	D;D	0.81908	-1.55;-1.55	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.113338	0.64402	D	0.000007	D	0.89143	0.6631	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88192	0.2878	10	0.39692	T	0.17	-16.7878	15.8088	0.78538	0.0:0.0:0.0:1.0	.	279	Q6ZSS7	MFSD6_HUMAN	H	279	ENSP00000376141:Y279H;ENSP00000281416:Y279H	ENSP00000281416:Y279H	Y	+	1	0	MFSD6	191009835	1.000000	0.71417	0.990000	0.47175	0.357000	0.29423	8.040000	0.89188	2.330000	0.79161	0.528000	0.53228	TAT		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			231	577	0	0	0	1	0	231	577				
PRDM10	56980	broad.mit.edu	37	11	129775610	129775610	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:129775610G>T	ENST00000360871.3	-	20	3421	c.3190C>A	c.(3190-3192)Cct>Act	p.P1064T	PRDM10_ENST00000358825.5_Missense_Mutation_p.P1068T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P982T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P1025T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P931T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P969T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1055					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGACCCGGAGGAAGCGTCATC	0.438																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3202-3204)Cct>Act		PR domain containing 10							125.0	108.0	113.0					11																	129775610		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129775610G>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3190C>A	11.37:g.129775610G>T	ENSP00000354118:p.Pro1064Thr					PRDM10_ENST00000360871.3_Missense_Mutation_p.P1064T|PRDM10_ENST00000528746.1_Missense_Mutation_p.P1025T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P969T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P931T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P982T	p.P1068T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	21	3433	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1055					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.3202C>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693497	0.88735	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.46063	1.76;0.88;1.75;1.77;1.89;1.72;1.87	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	L	0.32530	0.975	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	0.87578	0.996;0.998;0.996;0.998;0.998;0.998	T	0.58115	-0.7693	10	0.87932	D	0	-28.829	20.4777	0.99188	0.0:0.0:1.0:0.0	.	978;1064;1055;982;931;969	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	T	1068;931;1064;969;1025;982;781	ENSP00000351686:P1068T;ENSP00000302669:P931T;ENSP00000354118:P1064T;ENSP00000398431:P969T;ENSP00000431262:P1025T;ENSP00000432237:P982T;ENSP00000435940:P781T	ENSP00000302669:P931T	P	-	1	0	PRDM10	129280820	1.000000	0.71417	0.982000	0.44146	0.842000	0.47809	9.400000	0.97290	2.840000	0.97914	0.655000	0.94253	CCT		0.438	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		9	117	1	0	7.48243e-07	1	8.26652e-07	9	117				
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453																																						ENST00000258169.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(445-447)atT>atA		M-phase phosphoprotein 6							260.0	219.0	233.0					16																	82182372		2201	4300	6501	SO:0001819	synonymous_variant	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82182372A>T	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.447T>A	16.37:g.82182372A>T						MPHOSPH6_ENST00000563504.1_Silent_p.I120I	p.I149I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN			5	497	-			149					B2RAF0	Silent	SNP	ENST00000258169.4	37	c.447T>A	CCDS10937.1																																																																																				0.453	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		5	283	0	0	0	1	0	5	283				
SUGP2	10147	broad.mit.edu	37	19	19119239	19119239	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:19119239T>A	ENST00000601879.1	-	6	2636		c.e6-2		SUGP2_ENST00000337018.6_Splice_Site|SUGP2_ENST00000456085.2_Splice_Site|SUGP2_ENST00000600377.1_Splice_Site|SUGP2_ENST00000452918.2_Splice_Site			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCATGTCAACTACAAAACATA	0.473																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.e6-2		SURP and G patch domain containing 2							188.0	173.0	178.0					19																	19119239		2203	4300	6503	SO:0001630	splice_region_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19119239T>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2339-2A>T	19.37:g.19119239T>A						SUGP2_ENST00000337018.6_Splice_Site|SUGP2_ENST00000600377.1_Splice_Site|SUGP2_ENST00000456085.2_Splice_Site|SUGP2_ENST00000452918.2_Splice_Site				Q8IX01	SUGP2_HUMAN			6	2636	-								C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Splice_Site	SNP	ENST00000601879.1	37		CCDS12392.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.873855	0.72180	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0011	0.58676	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUGP2	18980239	1.000000	0.71417	0.879000	0.34478	0.986000	0.74619	5.051000	0.64257	1.670000	0.50864	0.379000	0.24179	.		0.473	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	Intron	7	638	0	0	0	1	0	7	638				
PWP2	5822	broad.mit.edu	37	21	45550649	45550649	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr21:45550649C>A	ENST00000291576.7	+	21	2883	c.2756C>A	c.(2755-2757)gCc>gAc	p.A919D	C21orf33_ENST00000291577.6_5'Flank|C21orf33_ENST00000348499.5_5'Flank|C21orf33_ENST00000427803.2_5'Flank	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	919					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGATGCTGGCCTAGAGCCAG	0.597																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(2755-2757)gCc>gAc		PWP2 periodic tryptophan protein homolog (yeast)							84.0	81.0	82.0					21																	45550649		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45550649C>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2756C>A	21.37:g.45550649C>A	ENSP00000291576:p.Ala919Asp						p.A919D	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	21	2883	+			919					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2756C>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120542	0.37436	.	.	ENSG00000241945	ENST00000291576	T	0.59083	0.29	3.09	-6.19	0.02078	.	2.940920	0.01463	N	0.015954	T	0.34164	0.0888	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.16722	0.016	T	0.28996	-1.0026	10	0.54805	T	0.06	-10.2441	6.1315	0.20207	0.0:0.2963:0.2466:0.4571	.	919	Q15269	PWP2_HUMAN	D	919	ENSP00000291576:A919D	ENSP00000291576:A919D	A	+	2	0	PWP2	44375077	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.657000	0.05335	-1.829000	0.01201	-0.910000	0.02820	GCC		0.597	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		77	1265	1	0	1.00798e-23	1	1.17704e-23	77	1265				
LRRC32	2615	broad.mit.edu	37	11	76371567	76371567	+	Missense_Mutation	SNP	C	C	T	rs370963014		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:76371567C>T	ENST00000407242.2	-	3	1312	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	357					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCTAAGCGCCGGGCCTCAAA	0.592																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1069-1071)cGg>cAg		leucine rich repeat containing 32		C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	27.0	27.0	27.0		1070,1070	-5.7	0.0	11		27	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	43,43	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	357/663,357/663	76371567	1,12983	2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371567C>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1070G>A	11.37:g.76371567C>T	ENSP00000384126:p.Arg357Gln					LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA	p.R357Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1312	-			357					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1070G>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	4.845	0.157125	0.09236	0.0	1.16E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04454	3.62;3.62;3.62	4.26	-5.69	0.02428	.	1.370670	0.04641	N	0.405255	T	0.02342	0.0072	N	0.04636	-0.2	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47018	-0.9149	10	0.26408	T	0.33	.	8.6358	0.33948	0.0:0.223:0.1952:0.5819	.	357	Q14392	LRC32_HUMAN	Q	357	ENSP00000260061:R357Q;ENSP00000384126:R357Q;ENSP00000385766:R357Q	ENSP00000260061:R357Q	R	-	2	0	LRRC32	76049215	0.000000	0.05858	0.001000	0.08648	0.749000	0.42624	-3.183000	0.00568	-1.172000	0.02762	0.484000	0.47621	CGG		0.592	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		17	73	0	0	0	1	0	17	73				
DNAH2	146754	broad.mit.edu	37	17	7727281	7727281	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:7727281C>T	ENST00000572933.1	+	75	12919	c.11459C>T	c.(11458-11460)cCt>cTt	p.P3820L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3820L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3820	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCGAGCCGCCTGTGCTGAAT	0.602																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11458-11460)cCt>cTt		dynein, axonemal, heavy chain 2							107.0	81.0	90.0					17																	7727281		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727281C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11459C>T	17.37:g.7727281C>T	ENSP00000458355:p.Pro3820Leu					DNAH2_ENST00000389173.2_Missense_Mutation_p.P3820L	p.P3820L			Q9P225	DYH2_HUMAN			75	12919	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3820			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11459C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873716	0.91664	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.08546	3.08	4.96	4.96	0.65561	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58674	-0.7595	10	0.52906	T	0.07	.	16.9608	0.86272	0.0:1.0:0.0:0.0	.	3781;3820	Q9P225-2;Q9P225	.;DYH2_HUMAN	L	3781;3820	ENSP00000373825:P3820L	ENSP00000353818:P3781L	P	+	2	0	DNAH2	7668006	1.000000	0.71417	0.964000	0.40570	0.974000	0.67602	5.446000	0.66600	2.309000	0.77851	0.609000	0.83330	CCT		0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		3	202	0	0	0	1	0	3	202				
ERGIC1	57222	broad.mit.edu	37	5	172341926	172341926	+	Intron	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:172341926T>A	ENST00000393784.3	+	5	514				ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000326654.2_Missense_Mutation_p.S109T	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1						ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGGAGGCACTCACTCGACCT	0.612																																						ENST00000326654.2																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9						c.(325-327)Tca>Aca		endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1							74.0	72.0	73.0					5																	172341926		1327	2309	3636	SO:0001627	intron_variant	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172341926T>A	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.375+85T>A	5.37:g.172341926T>A						ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron	p.S109T			Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	540	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	0					Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	c.325T>A	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110237	0.20714	.	.	ENSG00000113719	ENST00000326654	.	.	.	2.4	-2.9	0.05648	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	P	0.40476	0.718	B	0.29785	0.107	T	0.14254	-1.0479	6	.	.	.	.	7.6358	0.28266	0.0:0.2784:0.0:0.7216	.	109	Q969X5-3	.	T	109	.	.	S	+	1	0	ERGIC1	172274532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.835000	0.04234	-0.408000	0.06270	TCA		0.612	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		24	5	0	0	0	1	0	24	5				
FLG	2312	broad.mit.edu	37	1	152277527	152277527	+	Missense_Mutation	SNP	C	C	T	rs115482787		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152277527C>T	ENST00000368799.1	-	3	9870	c.9835G>A	c.(9835-9837)Gca>Aca	p.A3279T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3279	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A3279T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCTCTGCGTGACGAGTG	0.602									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.A3279T(1)	endometrium(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9835-9837)Gca>Aca		filaggrin		T	THR/ALA	1,4405	825.8+/-416.5	0,1,2202	361.0	352.0	355.0		9835	-3.8	0.0	1	dbSNP_133	355	1,8599		0,1,4299	no	missense	FLG	NM_002016.1	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3279/4062	152277527	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277527C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9835G>A	1.37:g.152277527C>T	ENSP00000357789:p.Ala3279Thr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A3279T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9870	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3279			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9835G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	3.686	-0.064576	0.07273	2.27E-4	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00864	5.6	2.42	-3.84	0.04256	.	.	.	.	.	T	0.00178	0.0005	N	0.22421	0.69	0.09310	N	1	B	0.33919	0.432	B	0.21917	0.037	T	0.41910	-0.9482	9	0.02654	T	1	.	8.0253	0.30434	0.0:0.3227:0.0:0.6773	.	3279	P20930	FILA_HUMAN	T	3279;217	ENSP00000357789:A3279T	ENSP00000357786:A217T	A	-	1	0	FLG	150544151	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.203000	0.00559	-0.916000	0.03818	-2.856000	0.00102	GCA		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	1045	0	0	0	1	0	7	1045				
HOMER1	9456	broad.mit.edu	37	5	78697880	78697880	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:78697880T>A	ENST00000334082.6	-	6	1970		c.e6-2		HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTGCTGAACTAAAATAAAAC	0.408																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.e6-2		homer homolog 1 (Drosophila)							44.0	41.0	42.0					5																	78697880		1853	4089	5942	SO:0001630	splice_region_variant	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78697880T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.528-2A>T	5.37:g.78697880T>A						HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Splice_Site|HOMER1_ENST00000508576.1_Intron		NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	6	1970	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)						B2R688|O96003|Q86YM5	Splice_Site	SNP	ENST00000334082.6	37		CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.020657	0.54576	.	.	ENSG00000152413	ENST00000334082;ENST00000535690	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.571	0.76337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HOMER1	78733636	1.000000	0.71417	0.988000	0.46212	0.710000	0.40934	4.691000	0.61738	2.138000	0.66242	0.459000	0.35465	.		0.408	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	Intron	7	69	0	0	0	1	0	7	69				
SCN10A	6336	broad.mit.edu	37	3	38797338	38797338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:38797338C>A	ENST00000449082.2	-	10	1401	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	468					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)	GTGGAGCCCTCTGACACTCTT	0.478																																						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.(1402-1404)Gag>Tag		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)						319.0	267.0	285.0					3																	38797338		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38797338C>A	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.1402G>T	3.37:g.38797338C>A	ENSP00000390600:p.Glu468*						p.E468*	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	10	1401	-			468					A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.1402G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674110	0.67928	.	.	ENSG00000185313	ENST00000449082	.	.	.	5.77	4.89	0.63831	.	0.658638	0.15084	N	0.281499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	10.0196	0.42035	0.1554:0.6948:0.1498:0.0	.	.	.	.	X	468	.	ENSP00000390600:E468X	E	-	1	0	SCN10A	38772342	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	3.178000	0.50879	1.558000	0.49541	-0.176000	0.13171	GAG		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		153	437	1	0	1.29601e-68	1	1.5783e-68	153	437				
CCDC112	153733	broad.mit.edu	37	5	114607213	114607213	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:114607213A>T	ENST00000512261.1	-	8	1196	c.780T>A	c.(778-780)aaT>aaA	p.N260K	CCDC112_ENST00000395557.4_Missense_Mutation_p.N260K|CCDC112_ENST00000506442.1_Missense_Mutation_p.N260K|CCDC112_ENST00000379611.5_Missense_Mutation_p.N343K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	260										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		tttgcttttgattatcctctt	0.338																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1027-1029)aaT>aaA		coiled-coil domain containing 112							156.0	144.0	148.0					5																	114607213		2201	4300	6501	SO:0001583	missense	153733							g.chr5:114607213A>T	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.780T>A	5.37:g.114607213A>T	ENSP00000423712:p.Asn260Lys					CCDC112_ENST00000512261.1_Missense_Mutation_p.N260K|CCDC112_ENST00000506442.1_Missense_Mutation_p.N260K|CCDC112_ENST00000395557.4_Missense_Mutation_p.N260K	p.N343K	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1316	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	260					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1029T>A	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	A	3.795	-0.042824	0.07452	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21191	2.02;2.39;2.38;2.39	6.03	3.34	0.38264	.	1.189820	0.05531	N	0.563885	T	0.17874	0.0429	L	0.40543	1.245	0.22066	N	0.999383	B;B;B	0.23249	0.082;0.082;0.082	B;B;B	0.25140	0.058;0.058;0.058	T	0.33979	-0.9847	10	0.06236	T	0.91	-6.5804	9.3658	0.38223	0.778:0.0:0.222:0.0	.	260;343;260	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	343;260;260;260	ENSP00000368931:N343K;ENSP00000423712:N260K;ENSP00000424876:N260K;ENSP00000378925:N260K	ENSP00000368931:N343K	N	-	3	2	CCDC112	114635112	0.734000	0.28142	0.997000	0.53966	0.993000	0.82548	0.995000	0.29706	1.097000	0.41459	0.533000	0.62120	AAT		0.338	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		4	75	0	0	0	1	0	4	75				
KIF16B	55614	broad.mit.edu	37	20	16359478	16359478	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:16359478G>C	ENST00000354981.2	-	19	3326	c.3169C>G	c.(3169-3171)Cag>Gag	p.Q1057E	KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E|KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1057	Glu-rich.			EQ -> SE (in Ref. 6; AAH34984). {ECO:0000305}.	ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q1057*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGCTTCCTGCTCAGCCTCC	0.557																																						ENST00000354981.2																			1	Substitution - Nonsense(1)	p.Q1057*(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3169-3171)Cag>Gag		kinesin family member 16B							106.0	105.0	105.0					20																	16359478		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359478G>C	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3169C>G	20.37:g.16359478G>C	ENSP00000347076:p.Gln1057Glu					KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E	p.Q1057E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3326	-			1057	EQ -> SE (in Ref. 6; AAH34984).		Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3169C>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584941	0.28268	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.70282	-0.4;-0.36;2.47;-0.47	5.39	4.42	0.53409	.	0.536274	0.21158	N	0.079215	T	0.60702	0.2289	L	0.46157	1.445	0.26759	N	0.970039	B;B;B;B	0.33883	0.091;0.43;0.018;0.025	B;B;B;B	0.33254	0.073;0.16;0.029;0.036	T	0.51639	-0.8680	10	0.05833	T	0.94	.	15.6417	0.77009	0.0:0.1428:0.8572:0.0	.	1057;1057;1057;1057	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	E	1057;1057;901;283;1057	ENSP00000347076:Q1057E;ENSP00000347995:Q1057E;ENSP00000367242:Q283E;ENSP00000384164:Q1057E	ENSP00000347076:Q1057E	Q	-	1	0	KIF16B	16307478	0.995000	0.38212	0.254000	0.24359	0.687000	0.40016	3.352000	0.52239	1.366000	0.46076	0.643000	0.83706	CAG		0.557	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		207	427	0	0	0	1	0	207	427				
CHD5	26038	broad.mit.edu	37	1	6170533	6170533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:6170533A>T	ENST00000262450.3	-	37	5402	c.5303T>A	c.(5302-5304)cTc>cAc	p.L1768H	CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCTCGTTGAGGATCATGTA	0.572																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5302-5304)cTc>cAc		chromodomain helicase DNA binding protein 5							144.0	142.0	143.0					1																	6170533		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6170533A>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5303T>A	1.37:g.6170533A>T	ENSP00000262450:p.Leu1768His					CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	p.L1768H	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	37	5402	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1768					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5303T>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	a	35	5.579667	0.96565	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.93859	-3.3;1.7	5.41	5.41	0.78517	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000010	D	0.95121	0.8419	L	0.42245	1.32	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.979	D	0.95747	0.8788	10	0.87932	D	0	-32.2848	15.7289	0.77788	1.0:0.0:0.0:0.0	.	1768;625	Q8TDI0;Q5TG85	CHD5_HUMAN;.	H	1768;625;625	ENSP00000262450:L1768H;ENSP00000367260:L625H	ENSP00000262450:L1768H	L	-	2	0	CHD5	6093120	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.211000	0.95120	2.187000	0.69744	0.418000	0.28097	CTC		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		55	17	0	0	0	1	0	55	17				
LYAR	55646	broad.mit.edu	37	4	4276152	4276152	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:4276152G>T	ENST00000343470.4	-	7	1014	c.774C>A	c.(772-774)agC>agA	p.S258R	LYAR_ENST00000452476.1_Missense_Mutation_p.S258R	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	258	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCACTGGCGCTGTCCTTGC	0.602																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(772-774)agC>agA		Ly1 antibody reactive							285.0	283.0	284.0					4																	4276152		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276152G>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.774C>A	4.37:g.4276152G>T	ENSP00000345917:p.Ser258Arg					LYAR_ENST00000452476.1_Missense_Mutation_p.S258R	p.S258R	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	1014	-			258			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.774C>A	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	G	5.323	0.245000	0.10077	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.31247	1.5;1.5	4.9	-3.23	0.05109	.	1.264780	0.05297	N	0.522302	T	0.12263	0.0298	N	0.02539	-0.55	0.09310	N	1	B	0.28291	0.206	B	0.22386	0.039	T	0.27191	-1.0081	10	0.13470	T	0.59	21.2552	13.3284	0.60473	0.7145:0.0:0.2855:0.0	.	258	Q9NX58	LYAR_HUMAN	R	258	ENSP00000345917:S258R;ENSP00000397367:S258R	ENSP00000345917:S258R	S	-	3	2	LYAR	4327053	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.394000	0.02518	-0.907000	0.03862	-1.134000	0.01955	AGC		0.602	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		26	846	1	0	3.73148e-12	1	4.22367e-12	26	846				
NAV3	89795	broad.mit.edu	37	12	78515718	78515718	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:78515718A>T	ENST00000397909.2	+	16	3922		c.e16-1		NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTTTCTTTTAGGTTGTTTGG	0.423										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.e16-1		neuron navigator 3							42.0	40.0	40.0					12																	78515718		1876	4119	5995	SO:0001630	splice_region_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515718A>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3750-1A>T	12.37:g.78515718A>T		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Intron				Q8IVL0	NAV3_HUMAN			16	3922	+								Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	37			.	.	.	.	.	.	.	.	.	.	A	18.61	3.660521	0.67586	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	77039849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.064000	0.93933	2.315000	0.78130	0.533000	0.62120	.		0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Intron	5	236	0	0	0	1	0	5	236				
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:34666597C>T	ENST00000488417.1	+	3	1354	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	412								p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577																																						ENST00000488417.1																			1	Substitution - Nonsense(1)	p.R222*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1234-1236)Cga>Tga		chromosome 1 open reading frame 94							35.0	34.0	34.0					1																	34666597		2202	4300	6502	SO:0001587	stop_gained	84970						protein binding	g.chr1:34666597C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1234C>T	1.37:g.34666597C>T	ENSP00000435634:p.Arg412*					C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	p.R412*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			3	1354	+		Myeloproliferative disorder(586;0.0393)	222					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Nonsense_Mutation	SNP	ENST00000488417.1	37	c.1234C>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889663	0.91889	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	.	.	.	5.52	4.61	0.57282	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6044	10.1682	0.42893	0.0:0.9075:0.0:0.0925	.	.	.	.	X	222;412	.	ENSP00000362472:R222X	R	+	1	2	C1orf94	34439184	0.996000	0.38824	0.999000	0.59377	0.054000	0.15201	1.069000	0.30641	1.324000	0.45282	0.655000	0.94253	CGA		0.577	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		11	31	0	0	0	1	0	11	31				
GALNT2	2590	broad.mit.edu	37	1	230391013	230391013	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:230391013G>A	ENST00000366672.4	+	11	1131	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	GALNT2_ENST00000543760.1_Silent_p.P315P|GALNT2_ENST00000541865.1_Missense_Mutation_p.V229M	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	353	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|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 vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AGATCATCCCGTGCAGCCGTG	0.607																																						ENST00000541865.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(685-687)Gtg>Atg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							225.0	166.0	186.0					1																	230391013		2203	4300	6503	SO:0001819	synonymous_variant	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230391013G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1059G>A	1.37:g.230391013G>A						GALNT2_ENST00000543760.1_Silent_p.P315P|GALNT2_ENST00000366672.4_Silent_p.P353P	p.V229M			Q10471	GALT2_HUMAN			9	871	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	85			Catalytic subdomain A.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.685G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390847	0.62066	.	.	ENSG00000143641	ENST00000541865	T	0.44482	0.92	4.97	-5.78	0.02362	.	.	.	.	.	T	0.28764	0.0713	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	T	0.42378	-0.9455	6	0.87932	D	0	.	0.3919	0.00412	0.2371:0.2135:0.2755:0.2739	.	.	.	.	M	229	ENSP00000444346:V229M	ENSP00000444346:V229M	V	+	1	0	GALNT2	228457636	0.000000	0.05858	0.966000	0.40874	0.993000	0.82548	-2.476000	0.00986	-0.779000	0.04560	-0.217000	0.12591	GTG		0.607	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		5	576	0	0	0	1	0	5	576				
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(91-93)ttA>ttT		olfactory receptor, family 4, subfamily D, member 11							113.0	107.0	109.0					11																	59271141		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271141A>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.93A>T	11.37:g.59271141A>T	ENSP00000320077:p.Leu31Phe						p.L31F	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	93	+			31						Missense_Mutation	SNP	ENST00000313253.1	37	c.93A>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.463158	0.00171	.	.	ENSG00000176200	ENST00000313253	T	0.00012	9.3	5.45	0.808	0.18719	.	0.176500	0.27147	N	0.020708	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.37776	-0.9691	10	0.02654	T	1	-20.1355	9.01	0.36135	0.1516:0.0:0.6995:0.1488	.	31	Q8NGI4	OR4DB_HUMAN	F	31	ENSP00000320077:L31F	ENSP00000320077:L31F	L	+	3	2	OR4D11	59027717	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.634000	0.05477	0.138000	0.18790	-0.371000	0.07208	TTA		0.448	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		5	221	0	0	0	1	0	5	221				
DGKK	139189	broad.mit.edu	37	X	50122701	50122701	+	RNA	SNP	A	A	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:50122701A>G	ENST00000376025.2	-	0	2845							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AATGCCTTGCAGGTTTGGCAA	0.443																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							153.0	130.0	137.0					X																	50122701		1925	4134	6059			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50122701A>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122701A>G										Q5KSL6	DGKK_HUMAN			0	2845	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.443	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		5	420	0	0	0	1	0	5	420				
CASQ1	844	broad.mit.edu	37	1	160160577	160160577	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:160160577G>A	ENST00000368078.3	+	1	232	c.36G>A	c.(34-36)gtG>gtA	p.V12V	CASQ1_ENST00000368079.3_Silent_p.V6V			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	12					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGAGCTGTGCCGGGTCTGC	0.627																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(16-18)gtG>gtA		calsequestrin 1 (fast-twitch, skeletal muscle)							58.0	52.0	54.0					1																	160160577		2203	4300	6503	SO:0001819	synonymous_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160577G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.36G>A	1.37:g.160160577G>A						CASQ1_ENST00000368078.3_Silent_p.V12V	p.V6V	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	293	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		12					B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	c.18G>A	CCDS1198.2																																																																																				0.627	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		20	120	0	0	0	1	0	20	120				
BRF2	55290	broad.mit.edu	37	8	37704498	37704498	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:37704498G>A	ENST00000220659.6	-	3	530	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BRF2_ENST00000520601.1_Missense_Mutation_p.A137V|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGTGCAGATGGCCCCCATTGT	0.532																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(409-411)gCc>gTc		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							225.0	206.0	213.0					8																	37704498		2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704498G>A	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.410C>T	8.37:g.37704498G>A	ENSP00000220659:p.Ala137Val					BRF2_ENST00000520601.1_Missense_Mutation_p.A137V|BRF2_ENST00000521170.1_3'UTR	p.A137V	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	530	-		Lung NSC(58;0.118)|all_lung(54;0.195)	137					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.410C>T	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323807	0.81580	.	.	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.54	5.54	0.83059	Cyclin-like (3);	0.102198	0.64402	D	0.000002	T	0.42765	0.1217	N	0.08118	0	0.80722	D	1	B	0.21309	0.054	B	0.18263	0.021	T	0.38824	-0.9643	9	0.87932	D	0	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	137	Q9HAW0	BRF2_HUMAN	V	137;114;137	.	ENSP00000220659:A137V	A	-	2	0	BRF2	37823656	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.045000	0.93812	2.615000	0.88500	0.555000	0.69702	GCC		0.532	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		8	932	0	0	0	1	0	8	932				
HLCS	3141	broad.mit.edu	37	21	38128989	38128989	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr21:38128989A>T	ENST00000399120.1	-	11	3093	c.1863T>A	c.(1861-1863)aaT>aaA	p.N621K	HLCS_ENST00000336648.4_Missense_Mutation_p.N621K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	621	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGTGTTGTTTATTGTATTCTG	0.443																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1861-1863)aaT>aaA		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						279.0	242.0	255.0					21																	38128989		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38128989A>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1863T>A	21.37:g.38128989A>T	ENSP00000382071:p.Asn621Lys					HLCS_ENST00000336648.3_Missense_Mutation_p.N621K	p.N621K	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			11	3093	-		Myeloproliferative disorder(46;0.0422)	621					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1863T>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168757	0.38315	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.96885	-4.16;-4.16	4.74	-5.31	0.02730	.	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.89904	3.07	0.29787	N	0.833483	D	0.89917	1.0	D	0.79108	0.992	D	0.94752	0.7928	10	0.27785	T	0.31	.	16.3295	0.83004	0.3285:0.0:0.6715:0.0	.	621	P50747	BPL1_HUMAN	K	621	ENSP00000382071:N621K;ENSP00000338387:N621K	ENSP00000338387:N621K	N	-	3	2	HLCS	37050859	0.074000	0.21230	0.004000	0.12327	0.073000	0.16967	0.066000	0.14489	-1.128000	0.02922	-0.337000	0.08149	AAT		0.443	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			7	617	0	0	0	1	0	7	617				
FBXO9	26268	broad.mit.edu	37	6	52945779	52945779	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:52945779G>A	ENST00000244426.6	+	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	FBXO9_ENST00000370939.3_Missense_Mutation_p.D107N|FBXO9_ENST00000323557.7_Missense_Mutation_p.D141N	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	151					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TGAAGATAATGATGATGACAG	0.398																																						ENST00000244426.6																			0				kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9						c.(451-453)Gat>Aat		F-box protein 9							128.0	123.0	124.0					6																	52945779		1930	4134	6064	SO:0001583	missense	26268					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr6:52945779G>A	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.451G>A	6.37:g.52945779G>A	ENSP00000244426:p.Asp151Asn					FBXO9_ENST00000370939.3_Missense_Mutation_p.D107N|FBXO9_ENST00000323557.7_Missense_Mutation_p.D141N	p.D151N	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN			5	623	+	Lung NSC(77;0.103)		151					A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	c.451G>A	CCDS55023.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135947	0.37728	.	.	ENSG00000112146	ENST00000498744;ENST00000370939;ENST00000323557;ENST00000473337;ENST00000244426	T;T;T	0.77098	-1.06;-1.07;-1.07	5.06	4.08	0.47627	.	0.274741	0.40302	N	0.001136	T	0.39253	0.1071	N	0.14661	0.345	0.35203	D	0.774488	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.13764	-1.0497	10	0.15952	T	0.53	-17.7184	9.6582	0.39939	0.176:0.0:0.824:0.0	.	141;258;151	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	N	107;107;141;107;151	ENSP00000359977:D107N;ENSP00000326968:D141N;ENSP00000244426:D151N	ENSP00000244426:D151N	D	+	1	0	FBXO9	53053738	1.000000	0.71417	0.499000	0.27577	0.875000	0.50365	3.604000	0.54081	1.084000	0.41184	0.591000	0.81541	GAT		0.398	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3			6	58	0	0	0	1	0	6	58				
IFNLR1	163702	broad.mit.edu	37	1	24485612	24485612	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:24485612G>T	ENST00000327535.1	-	6	743	c.731C>A	c.(730-732)gCa>gAa	p.A244E	IFNLR1_ENST00000327575.2_Intron|IFNLR1_ENST00000374421.3_Missense_Mutation_p.A244E|IFNLR1_ENST00000374419.1_Missense_Mutation_p.A161E	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	244					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CACACCCCCTGCGGCAATTAC	0.527																																						ENST00000327535.1																			0											c.(730-732)gCa>gAa		interferon, lambda receptor 1							68.0	68.0	68.0					1																	24485612		2203	4300	6503	SO:0001583	missense	163702							g.chr1:24485612G>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.731C>A	1.37:g.24485612G>T	ENSP00000327824:p.Ala244Glu					IFNLR1_ENST00000374419.1_Missense_Mutation_p.A161E|IFNLR1_ENST00000374421.3_Missense_Mutation_p.A244E|IFNLR1_ENST00000327575.2_Intron	p.A244E	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					6	743	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	c.731C>A	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301083	0.40694	.	.	ENSG00000185436	ENST00000327535;ENST00000374421;ENST00000374419	.	.	.	5.56	-8.28	0.01013	.	1.741270	0.02457	N	0.086150	T	0.35624	0.0938	N	0.24115	0.695	0.09310	N	1	B;B	0.31125	0.309;0.231	B;B	0.27715	0.081;0.082	T	0.30592	-0.9973	9	0.51188	T	0.08	3.96	18.4824	0.90817	0.8585:0.0:0.1415:0.0	.	244;244	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	E	244;244;161	.	ENSP00000327824:A244E	A	-	2	0	IL28RA	24358199	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.019000	0.03622	-1.664000	0.01479	-0.258000	0.10820	GCA		0.527	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		5	197	1	0	0.000602214	1	0.000634906	5	197				
TRIM68	55128	broad.mit.edu	37	11	4621656	4621656	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:4621656G>T	ENST00000300747.5	-	7	1597	c.1308C>A	c.(1306-1308)ttC>ttA	p.F436L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCACATTGTAGAAAGAAATGT	0.547																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(1306-1308)ttC>ttA		tripartite motif containing 68							91.0	76.0	81.0					11																	4621656		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621656G>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1308C>A	11.37:g.4621656G>T	ENSP00000300747:p.Phe436Leu						p.F436L	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1597	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	436			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.1308C>A	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552955	0.65425	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	D	0.89343	-2.5	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.56097	D	0.000040	D	0.94479	0.8223	M	0.88640	2.97	0.40072	D	0.976021	D	0.89917	1.0	D	0.87578	0.998	D	0.94953	0.8101	10	0.87932	D	0	.	9.994	0.41887	0.0934:0.0:0.9066:0.0	.	436	Q6AZZ1	TRI68_HUMAN	L	436;157	ENSP00000300747:F436L	ENSP00000300747:F436L	F	-	3	2	TRIM68	4578232	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	0.840000	0.27600	2.550000	0.86006	0.561000	0.74099	TTC		0.547	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		6	154	1	0	0.0215528	1	0.0220304	6	154				
MCTP1	79772	broad.mit.edu	37	5	94043228	94043228	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:94043228A>T	ENST00000515393.1	-	23	2972	c.2973T>A	c.(2971-2973)taT>taA	p.Y991*	MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	991					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCTTTCTTTTATATGGGCTAT	0.453																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2971-2973)taT>taA		multiple C2 domains, transmembrane 1							148.0	143.0	145.0					5																	94043228		2203	4300	6503	SO:0001587	stop_gained	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94043228A>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2973T>A	5.37:g.94043228A>T	ENSP00000424126:p.Tyr991*					MCTP1_ENST00000312216.8_Nonsense_Mutation_p.Y770*|MCTP1_ENST00000514040.1_Intron|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.Y684*|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Nonsense_Mutation_p.Y507*	p.Y991*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	23	2972	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	991					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Nonsense_Mutation	SNP	ENST00000515393.1	37	c.2973T>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	34	5.298539	0.95574	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216	.	.	.	5.66	3.2	0.36748	.	0.211585	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2733	8.4095	0.32636	0.6903:0.0:0.3097:0.0	.	.	.	.	X	991;684;507;770	.	ENSP00000308957:Y770X	Y	-	3	2	MCTP1	94068984	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.675000	0.46875	0.397000	0.25310	0.482000	0.46254	TAT		0.453	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		7	381	0	0	0	1	0	7	381				
TUBGCP3	10426	broad.mit.edu	37	13	113219494	113219494	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:113219494T>A	ENST00000261965.3	-	3	371		c.e3-2		TUBGCP3_ENST00000375669.3_Splice_Site	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					GTCGAATAACTGAAAAGACAG	0.363																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.e3-2		tubulin, gamma complex associated protein 3							130.0	130.0	130.0					13																	113219494		2203	4300	6503	SO:0001630	splice_region_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113219494T>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.185-2A>T	13.37:g.113219494T>A						TUBGCP3_ENST00000375669.3_Splice_Site		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			3	371	-	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)							O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Splice_Site	SNP	ENST00000261965.3	37		CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662193	0.47572	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2044	0.65725	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBGCP3	112267495	1.000000	0.71417	0.889000	0.34880	0.400000	0.30750	6.903000	0.75703	1.836000	0.53414	0.519000	0.50382	.		0.363	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	Intron	7	311	0	0	0	1	0	7	311				
OR2A25	392138	broad.mit.edu	37	7	143771625	143771625	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:143771625A>T	ENST00000408898.2	+	1	351	c.313A>T	c.(313-315)Agt>Tgt	p.S105C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGTTTTTGAGTTTTGCACA	0.527																																						ENST00000408898.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(313-315)Agt>Tgt		olfactory receptor, family 2, subfamily A, member 25							89.0	96.0	94.0					7																	143771625		2203	4300	6503	SO:0001583	missense	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771625A>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.313A>T	7.37:g.143771625A>T	ENSP00000386167:p.Ser105Cys						p.S105C	NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN			1	351	+	Melanoma(164;0.0783)		105					B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	c.313A>T	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563068	0.27915	.	.	ENSG00000221933	ENST00000408898	D	0.82619	-1.63	4.88	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75391	0.3843	L	0.41961	1.31	0.09310	N	1	P	0.39903	0.694	B	0.41036	0.346	T	0.66019	-0.6027	9	0.59425	D	0.04	-1.7701	3.2662	0.06865	0.643:0.0:0.1859:0.1711	.	105	A4D2G3	O2A25_HUMAN	C	105	ENSP00000386167:S105C	ENSP00000386167:S105C	S	+	1	0	OR2A25	143402558	0.001000	0.12720	0.279000	0.24732	0.521000	0.34408	0.624000	0.24462	0.364000	0.24374	0.460000	0.39030	AGT		0.527	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			6	456	0	0	0	1	0	6	456				
MPHOSPH9	10198	broad.mit.edu	37	12	123678961	123678961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:123678961A>T	ENST00000606320.1	-	13	2419	c.2213T>A	c.(2212-2214)cTa>cAa	p.L738Q	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L708Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L586Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L586Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	738						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCTTGTTTTAGTTGAGCTTC	0.308																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2212-2214)cTa>cAa		M-phase phosphoprotein 9							166.0	149.0	155.0					12																	123678961		2203	4299	6502	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123678961A>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2213T>A	12.37:g.123678961A>T	ENSP00000475489:p.Leu738Gln					MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L586Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L708Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L586Q	p.L738Q			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	13	2419	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		586					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2213T>A		.	.	.	.	.	.	.	.	.	.	A	11.87	1.768725	0.31320	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.79653	-1.29;-1.29	5.67	4.48	0.54585	.	0.396759	0.21328	N	0.076349	D	0.84973	0.5591	L	0.60455	1.87	0.09310	N	1	D	0.63046	0.992	P	0.62813	0.907	T	0.76460	-0.2951	10	0.59425	D	0.04	-9.8534	10.2001	0.43077	0.7385:0.0:0.0:0.2615	.	586	Q99550	MPP9_HUMAN	Q	586	ENSP00000303597:L586Q;ENSP00000445859:L586Q	ENSP00000303597:L586Q	L	-	2	0	MPHOSPH9	122244914	0.513000	0.26194	0.226000	0.23910	0.401000	0.30781	3.323000	0.52014	2.164000	0.68074	0.533000	0.62120	CTA		0.308	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			3	20	0	0	0	1	0	3	20				
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.e3-2		nuclear receptor coactivator 2							98.0	92.0	94.0					8																	71129001		1831	4100	5931	SO:0001630	splice_region_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71129001T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.19-2A>T	8.37:g.71129001T>A								NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	163	-	Breast(64;0.201)							Q14CD2	Splice_Site	SNP	ENST00000452400.2	37		CCDS47872.1																																																																																				0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		Intron	5	90	0	0	0	1	0	5	90				
CYFIP2	26999	broad.mit.edu	37	5	156746796	156746796	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:156746796G>A	ENST00000442283.2	+	0	1520				CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q|CYFIP2_ENST00000377576.3_Silent_p.Q461Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q|CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGCCTGCAGGTGCTCATGG	0.602																																						ENST00000442283.2																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38								cytoplasmic FMR1 interacting protein 2							85.0	86.0	85.0					5																	156746796		2203	4300	6503			26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746796G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07			5.37:g.156746796G>A						CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000377576.3_Silent_p.Q461Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q|CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q		NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	1520	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)							Translation_Start_Site	SNP	ENST00000442283.2	37																																																																																						0.602	CYFIP2-205	KNOWN	basic	protein_coding	protein_coding		NM_001037332		176	318	0	0	0	1	0	176	318				
ZNF445	353274	broad.mit.edu	37	3	44492932	44492932	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:44492932T>C	ENST00000396077.2	-	4	819	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZNF445_ENST00000425708.2_Missense_Mutation_p.T158A	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	158					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGGCTCCTGTACCCATCCAA	0.547																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(472-474)Aca>Gca		zinc finger protein 445							82.0	82.0	82.0					3																	44492932		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44492932T>C	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.472A>G	3.37:g.44492932T>C	ENSP00000379387:p.Thr158Ala					ZNF445_ENST00000396077.2_Missense_Mutation_p.T158A	p.T158A			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	3	813	-			158					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.472A>G	CCDS2713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.21|15.21	2.764717|2.764717	0.49574|0.49574	.|.	.|.	ENSG00000185219|ENSG00000185219	ENST00000425708;ENST00000396077|ENST00000340674;ENST00000430301	T;T|.	0.05717|.	3.4;3.4|.	5.07|5.07	3.91|3.91	0.45181|0.45181	Transcription regulator SCAN (1);|.	0.000000|.	0.48286|.	D|.	0.000196|.	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.19112|0.19112	0.55|0.55	0.29673|0.29673	N|N	0.842314|0.842314	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.57620|.	0.824;0.824|.	T|T	0.17077|0.17077	-1.0381|-1.0381	10|6	0.36615|0.38643	T|T	0.2|0.18	.|.	6.9628|6.9628	0.24608|0.24608	0.0:0.1021:0.0:0.8979|0.0:0.1021:0.0:0.8979	.|.	158;158|.	B7ZKX2;P59923|.	.;ZN445_HUMAN|.	A|C	158|152;156	ENSP00000413073:T158A;ENSP00000379387:T158A|.	ENSP00000379387:T158A|ENSP00000342436:Y152C	T|Y	-|-	1|2	0|0	ZNF445|ZNF445	44467936|44467936	0.997000|0.997000	0.39634|0.39634	0.964000|0.964000	0.40570|0.40570	0.995000|0.995000	0.86356|0.86356	2.172000|2.172000	0.42463|0.42463	2.051000|2.051000	0.60960|0.60960	0.402000|0.402000	0.26972|0.26972	ACA|TAC		0.547	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		9	1288	0	0	0	1	0	9	1288				
EIF3L	51386	broad.mit.edu	37	22	38259287	38259287	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:38259287G>C	ENST00000412331.2	+	7	1096	c.514G>C	c.(514-516)Ggt>Cgt	p.G172R	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G74R|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGATGCCGATGGTCCTGCTCC	0.443																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(514-516)Ggt>Cgt		eukaryotic translation initiation factor 3, subunit L							146.0	127.0	133.0					22																	38259287		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38259287G>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.514G>C	22.37:g.38259287G>C	ENSP00000416892:p.Gly172Arg					EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.G74R|EIF3L_ENST00000476955.1_Intron	p.G172R	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			7	1096	+			172						Missense_Mutation	SNP	ENST00000412331.2	37	c.514G>C	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037398	0.93630	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000262832;ENST00000406934;ENST00000451427	T;T	0.47177	0.85;0.85	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	L	0.55990	1.75	0.80722	D	1	B;P;P	0.46395	0.036;0.714;0.877	B;P;P	0.46585	0.027;0.521;0.474	T	0.56189	-0.8020	10	0.51188	T	0.08	-15.5157	18.6572	0.91458	0.0:0.0:1.0:0.0	.	74;172;215	B0QY90;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	R	172;215;139;74;148	ENSP00000416892:G172R;ENSP00000384634:G74R	ENSP00000262832:G139R	G	+	1	0	EIF3L	36589233	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.270000	0.95690	2.469000	0.83416	0.467000	0.42956	GGT		0.443	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		59	119	0	0	0	1	0	59	119				
ABCA12	26154	broad.mit.edu	37	2	215868936	215868936	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:215868936G>T	ENST00000272895.7	-	20	2899	c.2680C>A	c.(2680-2682)Ctc>Atc	p.L894I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	894					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACTCACCGAGTTCATCTATC	0.363																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2680-2682)Ctc>Atc		ATP-binding cassette, sub-family A (ABC1), member 12							62.0	62.0	62.0					2																	215868936		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215868936G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2680C>A	2.37:g.215868936G>T	ENSP00000272895:p.Leu894Ile					ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	p.L894I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	20	2899	-		Renal(323;0.127)	894					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2680C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661272	0.67700	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85484	-1.99;-1.99	5.7	5.7	0.88788	.	0.231983	0.30428	N	0.009646	D	0.88573	0.6473	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.74674	0.984;0.854	D	0.86669	0.1909	10	0.35671	T	0.21	.	12.3443	0.55111	0.0773:0.0:0.9227:0.0	.	894;576	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	894;576	ENSP00000272895:L894I;ENSP00000374312:L576I	ENSP00000272895:L894I	L	-	1	0	ABCA12	215577181	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	3.740000	0.55082	2.687000	0.91594	0.563000	0.77884	CTC		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		21	35	1	0	3.5997e-14	1	4.11235e-14	21	35				
CIITA	4261	broad.mit.edu	37	16	11001152	11001152	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:11001152G>A	ENST00000324288.8	+	11	1936	c.1803G>A	c.(1801-1803)cgG>cgA	p.R601R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	601	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCGGGACCGGCCACTTCTTC	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1801-1803)cgG>cgA		class II, major histocompatibility complex, transactivator							39.0	36.0	37.0					16																	11001152		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001152G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1803G>A	16.37:g.11001152G>A						CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	p.R601R	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1936	+			601			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1803G>A	CCDS10544.1																																																																																				0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		3	102	0	0	0	1	0	3	102				
CERS6	253782	broad.mit.edu	37	2	169622847	169622847	+	Intron	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:169622847C>T	ENST00000305747.6	+	9	1589				CERS6_ENST00000392687.4_Missense_Mutation_p.P340S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GAAGTGGAACCCTTTACATGT	0.468																																						ENST00000392687.4																			0											c.(1018-1020)Cct>Tct		ceramide synthase 6							97.0	91.0	93.0					2																	169622847		876	1991	2867	SO:0001627	intron_variant	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169622847C>T	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1002+589C>T	2.37:g.169622847C>T						CERS6_ENST00000305747.6_Intron	p.P340S	NM_001256126.1	NP_001243055.1	Q6ZMG9	CERS6_HUMAN			10	1218	+			334					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.1018C>T	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785120	0.70222	.	.	ENSG00000172292	ENST00000392687	T	0.10477	2.87	5.31	5.31	0.75309	.	0.000000	0.31404	U	0.007706	T	0.23965	0.0580	.	.	.	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	T	0.02617	-1.1133	9	0.07813	T	0.8	.	19.3345	0.94309	0.0:1.0:0.0:0.0	.	340	Q32M63	.	S	340	ENSP00000376453:P340S	ENSP00000376453:P340S	P	+	1	0	CERS6	169331093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.972000	0.76110	2.654000	0.90174	0.591000	0.81541	CCT		0.468	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		51	131	0	0	0	1	0	51	131				
PHTF1	10745	broad.mit.edu	37	1	114252891	114252891	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:114252891C>A	ENST00000369604.1	-	11	1737	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	418					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAACATCCTCTTTGGGGT	0.473																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1252-1254)gaG>gaT		putative homeodomain transcription factor 1							74.0	65.0	68.0					1																	114252891		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114252891C>A	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1254G>T	1.37:g.114252891C>A	ENSP00000358617:p.Glu418Asp					PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000474926.1_5'UTR	p.E418D			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1737	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	418					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1254G>T	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405377|2.405377	0.42715|0.42715	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.73|5.73	1.01|1.01	0.19927|0.19927	.|.	0.122068|.	0.64402|.	D|.	0.000014|.	T|T	0.21022|0.21022	0.0506|0.0506	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.731;0.993;0.991|.	B;P;P|.	0.56434|.	0.304;0.775;0.798|.	T|T	0.05370|0.05370	-1.0889|-1.0889	9|5	0.13853|.	T|.	0.58|.	-24.2844|-24.2844	10.1583|10.1583	0.42836|0.42836	0.0:0.5021:0.0:0.4979|0.0:0.5021:0.0:0.4979	.|.	418;173;418|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	D|M	373;418;365;373;365;418;418|174	.|.	ENSP00000350428:E418D|.	E|R	-|-	3|2	2|0	PHTF1|PHTF1	114054414|114054414	0.880000|0.880000	0.30214|0.30214	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	-0.200000|-0.200000	0.09478|0.09478	-0.070000|-0.070000	0.12908|0.12908	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.473	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		48	95	1	0	4.0306e-16	1	4.6333e-16	48	95				
FOXK1	221937	broad.mit.edu	37	7	4796681	4796681	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:4796681C>G	ENST00000328914.4	+	5	1107	c.1107C>G	c.(1105-1107)tcC>tcG	p.S369S	FOXK1_ENST00000446823.1_Silent_p.S206S	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCCACGTTCCCAGGAGGAGC	0.527																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1105-1107)tcC>tcG		forkhead box K1							75.0	81.0	79.0					7																	4796681		2203	4300	6503	SO:0001819	synonymous_variant	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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.chr7:4796681C>G	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1107C>G	7.37:g.4796681C>G						FOXK1_ENST00000446823.1_Silent_p.S206S	p.S369S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1107	+		Ovarian(82;0.0175)	369						Silent	SNP	ENST00000328914.4	37	c.1107C>G	CCDS34591.1																																																																																				0.527	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			7	86	0	0	0	1	0	7	86				
CPLX2	10814	broad.mit.edu	37	5	175306865	175306865	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:175306865G>T	ENST00000359546.4	+	5	865	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N|CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	74	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCTGAAGAAGAAGGAGGAGA	0.647																																						ENST00000359546.4																			0				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10						c.(220-222)aaG>aaT		complexin 2							25.0	30.0	28.0					5																	175306865		2200	4300	6500	SO:0001583	missense	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306865G>T	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.222G>T	5.37:g.175306865G>T	ENSP00000352544:p.Lys74Asn					CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N|CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N	p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	865	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	74			Interaction with the SNARE complex (By similarity).		B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	c.222G>T	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	g	19.22	3.785293	0.70337	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	5.38	3.6	0.41247	.	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	M	0.89715	3.055	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.81722	-0.0803	9	0.72032	D	0.01	-3.5723	10.2542	0.43388	0.1638:0.0:0.8362:0.0	.	74	Q6PUV4	CPLX2_HUMAN	N	74	.	ENSP00000352544:K74N	K	+	3	2	CPLX2	175239471	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.843000	0.62838	0.659000	0.30945	0.552000	0.68991	AAG		0.647	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			79	45	1	0	9.35349e-44	1	1.1206e-43	79	45				
TG	7038	broad.mit.edu	37	8	133931619	133931619	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:133931619A>T	ENST00000220616.4	+	21	4418		c.e21-1		TG_ENST00000542445.1_5'Flank|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTTTTTCTAGTTAAGTGTC	0.418																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.e21-1		thyroglobulin							71.0	65.0	67.0					8																	133931619		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133931619A>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4379-1A>T	8.37:g.133931619A>T						TG_ENST00000377869.1_Splice_Site		NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	21	4418	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)						O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37		CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	9.738	1.164036	0.21538	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3216	0.54987	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TG	134000801	1.000000	0.71417	0.712000	0.30502	0.161000	0.22273	5.922000	0.70036	2.225000	0.72522	0.533000	0.62120	.		0.418	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Intron	8	108	0	0	0	1	0	8	108				
SSRP1	6749	broad.mit.edu	37	11	57097569	57097569	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:57097569C>T	ENST00000278412.2	-	12	1745	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	snoU13_ENST00000459327.1_RNA|RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	493	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACTCACTCCTCTGCCACAT	0.498																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1477-1479)gaG>gaA		structure specific recognition protein 1							208.0	177.0	188.0					11																	57097569		2201	4296	6497	SO:0001819	synonymous_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57097569C>T	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1479G>A	11.37:g.57097569C>T							p.E493E	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			12	1745	-			493			Asp/Glu-rich (acidic).		Q5BJG8	Silent	SNP	ENST00000278412.2	37	c.1479G>A	CCDS7952.1																																																																																				0.498	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		19	100	0	0	0	1	0	19	100				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A						BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site				Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	5	68	0	0	0	1	0	5	68				
SMARCA1	6594	broad.mit.edu	37	X	128624166	128624166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:128624166G>A	ENST00000371122.4	-	15	1948	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	607	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGATGTGCTCGATCCTAGTAG	0.328																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1819-1821)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							100.0	84.0	89.0					X																	128624166		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624166G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1819C>T	X.37:g.128624166G>A	ENSP00000360163:p.Arg607*					SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*	p.R607*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	1948	-			607			Helicase C-terminal.		Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.1819C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	40	8.504495	0.98841	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6028	13.2658	0.60133	0.0:0.0:0.8415:0.1585	.	.	.	.	X	595;595;607;586	.	ENSP00000360162:R595X	R	-	1	2	SMARCA1	128451847	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.813000	0.99286	2.340000	0.79590	0.462000	0.41574	CGA		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		44	110	0	0	0	1	0	44	110				
DENND5A	23258	broad.mit.edu	37	11	9225264	9225264	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:9225264C>T	ENST00000328194.3	-	4	1212	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	DENND5A_ENST00000530044.1_Missense_Mutation_p.V298M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	298	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGCTGAAACACATTCTCCACC	0.478																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(892-894)Gtg>Atg		DENN/MADD domain containing 5A							73.0	79.0	77.0					11																	9225264		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225264C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.892G>A	11.37:g.9225264C>T	ENSP00000328524:p.Val298Met					DENND5A_ENST00000530044.1_Missense_Mutation_p.V298M	p.V298M	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	1212	-			298			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.892G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639925	0.47153	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.13657	2.57;2.57	5.31	5.31	0.75309	DENN (3);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.46885	1.475	0.80722	D	1	B;B	0.33549	0.417;0.031	B;B	0.41666	0.363;0.062	T	0.01771	-1.1277	10	0.45353	T	0.12	.	13.2952	0.60292	0.0:0.924:0.0:0.076	.	298;298	E9PS91;Q6IQ26	.;DEN5A_HUMAN	M	298	ENSP00000328524:V298M;ENSP00000435866:V298M	ENSP00000328524:V298M	V	-	1	0	DENND5A	9181840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.317000	0.51968	2.471000	0.83476	0.650000	0.86243	GTG		0.478	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		12	156	0	0	0	1	0	12	156				
FBN1	2200	broad.mit.edu	37	15	48808494	48808494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:48808494G>T	ENST00000316623.5	-	11	1668	c.1213C>A	c.(1213-1215)Ccc>Acc	p.P405T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	405	Pro-rich.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGCCAAGGGGTGGGGGAGGA	0.498																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(1213-1215)Ccc>Acc		fibrillin 1							87.0	92.0	91.0					15																	48808494		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48808494G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1213C>A	15.37:g.48808494G>T	ENSP00000325527:p.Pro405Thr						p.P405T	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	11	1668	-		all_lung(180;0.00279)	405			Pro-rich.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1213C>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936129	0.34189	.	.	ENSG00000166147	ENST00000316623	T	0.81163	-1.46	5.54	5.54	0.83059	.	0.170949	0.52532	D	0.000071	T	0.70771	0.3262	L	0.29908	0.895	0.80722	D	1	P	0.34522	0.455	B	0.33568	0.166	T	0.66913	-0.5803	10	0.18276	T	0.48	.	16.3373	0.83068	0.0:0.0:1.0:0.0	.	405	P35555	FBN1_HUMAN	T	405	ENSP00000325527:P405T	ENSP00000325527:P405T	P	-	1	0	FBN1	46595786	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	5.125000	0.64715	2.884000	0.98904	0.655000	0.94253	CCC		0.498	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			48	127	1	0	1.21353e-23	1	1.4126e-23	48	127				
ATP11A	23250	broad.mit.edu	37	13	113516849	113516849	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:113516849A>T	ENST00000487903.1	+	25	3039	c.2951A>T	c.(2950-2952)tAt>tTt	p.Y984F	ATP11A_ENST00000375630.2_Missense_Mutation_p.Y984F|ATP11A_ENST00000375645.3_Missense_Mutation_p.Y984F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y984F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	984					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				TTTGGTGCTTATTTCGTGTTT	0.527																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(2950-2952)tAt>tTt		ATPase, class VI, type 11A							193.0	147.0	162.0					13																	113516849		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113516849A>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2951A>T	13.37:g.113516849A>T	ENSP00000420387:p.Tyr984Phe					ATP11A_ENST00000375645.3_Missense_Mutation_p.Y984F|ATP11A_ENST00000283558.8_Missense_Mutation_p.Y984F|ATP11A_ENST00000375630.2_Missense_Mutation_p.Y984F	p.Y984F			P98196	AT11A_HUMAN			25	3039	+	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_lung(25;0.134)|all_epithelial(44;0.141)	984					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.2951A>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065527	0.55539	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.21	5.21	0.72293	.	0.058675	0.64402	D	0.000001	T	0.63462	0.2513	L	0.58302	1.8	0.51767	D	0.999933	B;B	0.14438	0.01;0.002	B;B	0.17979	0.02;0.005	T	0.59658	-0.7413	10	0.30078	T	0.28	.	15.1033	0.72299	1.0:0.0:0.0:0.0	.	984;984	E9PEJ6;P98196	.;AT11A_HUMAN	F	984	ENSP00000420387:Y984F;ENSP00000364781:Y984F;ENSP00000364796:Y984F;ENSP00000283558:Y984F	ENSP00000283558:Y984F	Y	+	2	0	ATP11A	112564850	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	6.441000	0.73439	1.957000	0.56846	0.459000	0.35465	TAT		0.527	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		4	69	0	0	0	1	0	4	69				
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		transcription factor 23							103.0	111.0	108.0					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	519	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		4	386	0	0	0	1	0	4	386				
FRMD7	90167	broad.mit.edu	37	X	131212796	131212796	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:131212796T>A	ENST00000298542.4	-	12	1424	c.1249A>T	c.(1249-1251)Att>Ttt	p.I417F	FRMD7_ENST00000464296.1_Missense_Mutation_p.I402F|FRMD7_ENST00000370879.1_Missense_Mutation_p.I297F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	417					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCATATAAATAAAAGGGAAA	0.463																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1249-1251)Att>Ttt		FERM domain containing 7							147.0	138.0	141.0					X																	131212796		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212796T>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1249A>T	X.37:g.131212796T>A	ENSP00000298542:p.Ile417Phe					FRMD7_ENST00000370879.1_Missense_Mutation_p.I297F|FRMD7_ENST00000464296.1_Missense_Mutation_p.I402F	p.I417F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1424	-	Acute lymphoblastic leukemia(192;0.000127)		417					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1249A>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818293	0.32145	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87966	-2.32;-1.96;-2.07	5.97	-1.32	0.09201	.	0.760888	0.12581	N	0.456419	T	0.79924	0.4530	L	0.51422	1.61	0.28753	N	0.901349	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.67292	-0.5707	10	0.66056	D	0.02	.	4.0951	0.09986	0.2128:0.0634:0.4317:0.2921	.	402;417	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	F	297;417;402	ENSP00000359916:I297F;ENSP00000298542:I417F;ENSP00000417996:I402F	ENSP00000298542:I417F	I	-	1	0	FRMD7	131040477	0.533000	0.26354	0.951000	0.38953	0.981000	0.71138	-0.064000	0.11636	-0.616000	0.05671	0.486000	0.48141	ATT		0.463	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		4	189	0	0	0	1	0	4	189				
TAF1L	138474	broad.mit.edu	37	9	32632433	32632433	+	Missense_Mutation	SNP	G	G	A	rs535964605		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:32632433G>A	ENST00000242310.4	-	1	3234	c.3145C>T	c.(3145-3147)Cgc>Tgc	p.R1049C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1049					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1049C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATTGTGCGCACCACATCA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21860	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			1	Substitution - Missense(1)	p.R1049C(1)	kidney(1)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3145-3147)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							223.0	221.0	222.0					9																	32632433		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632433G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3145C>T	9.37:g.32632433G>A	ENSP00000418379:p.Arg1049Cys						p.R1049C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3234	-			1049					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3145C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437424	0.62955	.	.	ENSG00000122728	ENST00000242310	T	0.17054	2.3	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23048	-1.0199	10	0.87932	D	0	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1049	Q8IZX4	TAF1L_HUMAN	C	1049	ENSP00000418379:R1049C	ENSP00000418379:R1049C	R	-	1	0	TAF1L	32622433	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	2.905000	0.48727	0.507000	0.28148	0.195000	0.17529	CGC		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	436	0	0	0	1	0	4	436				
CCDC181	57821	broad.mit.edu	37	1	169390644	169390644	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:169390644A>T	ENST00000367806.3	-	3	1177	c.1025T>A	c.(1024-1026)cTa>cAa	p.L342Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.L342Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	342						nucleus (GO:0005634)											TTGTTTTTGTAGTTCTTTCTG	0.363																																						ENST00000545005.1																			0											c.(1024-1026)cTa>cAa		coiled-coil domain containing 181							75.0	71.0	72.0					1																	169390644		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390644A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1025T>A	1.37:g.169390644A>T	ENSP00000356780:p.Leu342Gln					CCDC181_ENST00000367806.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.L342Q|CCDC181_ENST00000491570.1_5'UTR	p.L342Q							4	1532	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.1025T>A		.	.	.	.	.	.	.	.	.	.	A	14.71	2.617264	0.46736	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.34072	1.38;1.38;1.38;1.53	5.17	4.07	0.47477	.	0.152431	0.44097	D	0.000485	T	0.47248	0.1435	M	0.71581	2.175	0.46260	D	0.998952	D;D;D	0.63046	0.992;0.992;0.992	D;P;P	0.67900	0.954;0.868;0.868	T	0.56025	-0.8047	9	0.87932	D	0	-6.5351	12.9548	0.58421	0.8337:0.1663:0.0:0.0	.	342;342;342	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	342	ENSP00000356779:L342Q;ENSP00000356780:L342Q;ENSP00000442297:L342Q;ENSP00000411000:L342Q	ENSP00000356779:L342Q	L	-	2	0	C1orf114	167657268	0.999000	0.42202	0.998000	0.56505	0.387000	0.30353	3.781000	0.55394	1.947000	0.56498	0.374000	0.22700	CTA		0.363	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		5	210	0	0	0	1	0	5	210				
TAF2	6873	broad.mit.edu	37	8	120756635	120756635	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:120756635T>A	ENST00000378164.2	-	24	3407		c.e24-2		TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGGAAAACTAAAACACACA	0.378																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.e24-2		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							113.0	113.0	113.0					8																	120756635		2203	4300	6503	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756635T>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3109-2A>T	8.37:g.120756635T>A								NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3407	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)							B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	ENST00000378164.2	37		CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766990	0.49574	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8211	0.70074	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF2	120825816	1.000000	0.71417	0.991000	0.47740	0.672000	0.39443	7.681000	0.84073	2.096000	0.63516	0.383000	0.25322	.		0.378	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Intron	5	169	0	0	0	1	0	5	169				
FLT1	2321	broad.mit.edu	37	13	28895678	28895678	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:28895678C>A	ENST00000282397.4	-	23	3347	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D	FLT1_ENST00000540678.1_Missense_Mutation_p.E250D|FLT1_ENST00000543394.1_Missense_Mutation_p.E55D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1032	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACGTTGTTCTCAGATAAAA	0.373																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3094-3096)gaG>gaT		fms-related tyrosine kinase 1	Sunitinib(DB01268)						136.0	121.0	126.0					13																	28895678		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28895678C>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3096G>T	13.37:g.28895678C>A	ENSP00000282397:p.Glu1032Asp					FLT1_ENST00000540678.1_Missense_Mutation_p.E250D|FLT1_ENST00000543394.1_Missense_Mutation_p.E55D	p.E1032D	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	23	3347	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1032			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3096G>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241242	0.39598	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.83506	-1.73;-1.73;-1.73	5.84	1.64	0.23874	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.237208	0.42821	N	0.000641	T	0.59636	0.2208	N	0.04162	-0.26	0.80722	D	1	B	0.15930	0.015	B	0.16289	0.015	T	0.49351	-0.8949	10	0.37606	T	0.19	.	5.0338	0.14423	0.0:0.4265:0.2994:0.2742	.	1032	P17948	VGFR1_HUMAN	D	1032;55;250	ENSP00000282397:E1032D;ENSP00000437841:E55D;ENSP00000443311:E250D	ENSP00000282397:E1032D	E	-	3	2	FLT1	27793678	0.391000	0.25221	1.000000	0.80357	0.995000	0.86356	-0.362000	0.07602	0.793000	0.33875	-0.137000	0.14449	GAG		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	154	1	0	0.000602214	1	0.000634906	4	154				
OR4K13	390433	broad.mit.edu	37	14	20502562	20502562	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:20502562G>A	ENST00000315693.2	-	1	357	c.356C>T	c.(355-357)gCa>gTa	p.A119V	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTGTCTATTGCCATGGCTAC	0.498																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(355-357)gCa>gTa		olfactory receptor, family 4, subfamily K, member 13							104.0	101.0	102.0					14																	20502562		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502562G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.356C>T	14.37:g.20502562G>A	ENSP00000319322:p.Ala119Val						p.A119V	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	357	-	all_cancers(95;0.00108)		119					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.356C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	16.02	3.004121	0.54254	.	.	ENSG00000176253	ENST00000315693	T	0.55588	0.51	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001566	T	0.78780	0.4337	H	0.95645	3.7	0.35333	D	0.785754	D	0.69078	0.997	D	0.69479	0.964	D	0.89214	0.3566	10	0.87932	D	0	.	14.1412	0.65320	0.0:0.0:1.0:0.0	.	119	Q8NH42	OR4KD_HUMAN	V	119	ENSP00000319322:A119V	ENSP00000319322:A119V	A	-	2	0	OR4K13	19572402	1.000000	0.71417	0.946000	0.38457	0.024000	0.10985	8.286000	0.89916	1.848000	0.53677	0.508000	0.49915	GCA		0.498	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			6	807	0	0	0	1	0	6	807				
SLC6A1	6529	broad.mit.edu	37	3	11076335	11076335	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:11076335C>A	ENST00000287766.4	+	15	2067	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	SLC6A1_ENST00000536032.1_Missense_Mutation_p.P371H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	549					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GTCCTCATCCCCGGGTACATG	0.572																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1645-1647)cCc>cAc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						165.0	138.0	147.0					3																	11076335		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11076335C>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1646C>A	3.37:g.11076335C>A	ENSP00000287766:p.Pro549His					SLC6A1_ENST00000536032.1_Missense_Mutation_p.P371H	p.P549H	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	15	2067	+		Ovarian(110;0.0392)	549					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1646C>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767665	0.90020	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.80824	-1.42;-1.42	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	D	0.94231	0.8148	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95807	0.8838	10	0.87932	D	0	.	19.9758	0.97304	0.0:1.0:0.0:0.0	.	549	P30531	SC6A1_HUMAN	H	549;371	ENSP00000287766:P549H;ENSP00000445171:P371H	ENSP00000287766:P549H	P	+	2	0	SLC6A1	11051335	1.000000	0.71417	0.974000	0.42286	0.945000	0.59286	7.572000	0.82409	2.723000	0.93209	0.650000	0.86243	CCC		0.572	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	230	1	0	0.0477658	1	0.0486894	7	230				
SMYD2	56950	broad.mit.edu	37	1	214507541	214507541	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:214507541A>T	ENST00000366957.5	+	11	1134		c.e11-1		SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CTCTTGTTCTAGTAAGCACTA	0.572																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.e11-1		SET and MYND domain containing 2							228.0	210.0	216.0					1																	214507541		2203	4300	6503	SO:0001630	splice_region_variant	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214507541A>T	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1113-1A>T	1.37:g.214507541A>T						SMYD2_ENST00000415093.2_Splice_Site|SMYD2_ENST00000491455.1_3'UTR		NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	11	1134	+								B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Splice_Site	SNP	ENST00000366957.5	37		CCDS31022.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904099	0.92035	.	.	ENSG00000143499	ENST00000366957	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMYD2	212574164	1.000000	0.71417	0.815000	0.32552	0.534000	0.34807	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	.		0.572	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197	Intron	5	303	0	0	0	1	0	5	303				
PLXNC1	10154	broad.mit.edu	37	12	94637785	94637785	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:94637785T>A	ENST00000258526.4	+	12	2621	c.2372T>A	c.(2371-2373)tTa>tAa	p.L791*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	791					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCACATGAATTAAAAGGAAAC	0.328																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2371-2373)tTa>tAa		plexin C1							106.0	100.0	102.0					12																	94637785		2202	4300	6502	SO:0001587	stop_gained	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94637785T>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2372T>A	12.37:g.94637785T>A	ENSP00000258526:p.Leu791*						p.L791*	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			12	2621	+			791					Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.2372T>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	41	8.784681	0.98952	.	.	ENSG00000136040	ENST00000258526	.	.	.	5.56	1.89	0.25635	.	1.020180	0.07824	N	0.960217	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	4.1288	0.10139	0.175:0.2433:0.0:0.5817	.	.	.	.	X	791	.	ENSP00000258526:L791X	L	+	2	0	PLXNC1	93161916	0.000000	0.05858	0.125000	0.21846	0.976000	0.68499	-0.026000	0.12392	0.484000	0.27630	0.482000	0.46254	TTA		0.328	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			5	108	0	0	0	1	0	5	108				
LGALS2	3957	broad.mit.edu	37	22	37966589	37966589	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:37966589C>A	ENST00000215886.4	-	3	417	c.243G>T	c.(241-243)gaG>gaT	p.E81D		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	81	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCACCTTGACCTCTGACCCTG	0.582																																					GBM(193;1840 2185 13711 20676 24505)	ENST00000215886.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11						c.(241-243)gaG>gaT		lectin, galactoside-binding, soluble, 2							192.0	166.0	175.0					22																	37966589		2203	4300	6503	SO:0001583	missense	3957							g.chr22:37966589C>A		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.243G>T	22.37:g.37966589C>A	ENSP00000215886:p.Glu81Asp						p.E81D	NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN			3	417	-	Melanoma(58;0.0574)		81			Galectin.		Q6FGY4	Missense_Mutation	SNP	ENST00000215886.4	37	c.243G>T	CCDS13950.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401905	0.42613	.	.	ENSG00000100079	ENST00000215886	T	0.05786	3.39	5.97	1.54	0.23209	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.137629	0.64402	N	0.000004	T	0.05410	0.0143	L	0.58101	1.795	0.35133	D	0.768106	B	0.10296	0.003	B	0.09377	0.004	T	0.27706	-1.0066	10	0.15952	T	0.53	-49.1233	2.6383	0.04964	0.1381:0.5252:0.1203:0.2164	.	81	P05162	LEG2_HUMAN	D	81	ENSP00000215886:E81D	ENSP00000215886:E81D	E	-	3	2	LGALS2	36296535	0.055000	0.20627	0.996000	0.52242	0.985000	0.73830	-0.340000	0.07821	0.402000	0.25451	0.655000	0.94253	GAG		0.582	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498		7	347	1	0	0.00198382	1	0.00207374	7	347				
ENO3	2027	broad.mit.edu	37	17	4858509	4858509	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:4858509T>C	ENST00000323997.6	+	7	716	c.584T>C	c.(583-585)gTc>gCc	p.V195A	ENO3_ENST00000518175.1_Missense_Mutation_p.V195A|ENO3_ENST00000519584.1_Missense_Mutation_p.V152A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	195					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTCAAGGGGGTCATCAAGGCC	0.572																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(583-585)gTc>gCc		enolase 3 (beta, muscle)							92.0	81.0	85.0					17																	4858509		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858509T>C	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.584T>C	17.37:g.4858509T>C	ENSP00000324105:p.Val195Ala					ENO3_ENST00000519584.1_Missense_Mutation_p.V152A|ENO3_ENST00000518175.1_Missense_Mutation_p.V195A	p.V195A	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			7	716	+			195					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.584T>C	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867614	0.91587	.	.	ENSG00000108515	ENST00000519602;ENST00000323997;ENST00000519584;ENST00000518175	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.7	5.7	0.88788	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77425	0.4128	M	0.92833	3.35	0.80722	D	1	P;P;D;P	0.56746	0.955;0.929;0.977;0.955	D;P;P;D	0.65573	0.936;0.879;0.885;0.936	T	0.83056	-0.0150	10	0.72032	D	0.01	-15.0507	13.9511	0.64118	0.0:0.0:0.0:1.0	.	195;152;102;195	P13929;P13929-3;D3DTL4;D3DTL2	ENOB_HUMAN;.;.;.	A	195;195;152;195	ENSP00000430055:V195A;ENSP00000324105:V195A;ENSP00000430636:V152A;ENSP00000431087:V195A	ENSP00000324105:V195A	V	+	2	0	ENO3	4799255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.184000	0.69523	0.477000	0.44152	GTC		0.572	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			9	700	0	0	0	1	0	9	700				
PAK1IP1	55003	broad.mit.edu	37	6	10709469	10709469	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:10709469A>T	ENST00000379568.3	+	10	1255		c.e10-1			NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1						cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TTTGTGTTTTAGTAAGTAAAG	0.368																																						ENST00000379568.3																			0				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.e10-1		PAK1 interacting protein 1							54.0	53.0	54.0					6																	10709469		2202	4300	6502	SO:0001630	splice_region_variant	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10709469A>T	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.965-1A>T	6.37:g.10709469A>T								NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN			10	1255	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)						Q5T4J2|Q96QJ8|Q96T87	Splice_Site	SNP	ENST00000379568.3	37		CCDS34339.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.743285	0.30865	.	.	ENSG00000111845	ENST00000379568	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5993	0.33734	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK1IP1	10817455	0.713000	0.27926	0.529000	0.27951	0.488000	0.33401	2.086000	0.41643	1.604000	0.50143	0.460000	0.39030	.		0.368	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906	Intron	4	51	0	0	0	1	0	4	51				
ENO1	2023	broad.mit.edu	37	1	8926510	8926510	+	Missense_Mutation	SNP	C	C	A	rs11544509		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:8926510C>A	ENST00000234590.4	-	7	614	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	165	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGAACTCCTGCATGGCCAGCT	0.547																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(493-495)atG>atT		enolase 1, (alpha)							113.0	108.0	109.0					1																	8926510		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926510C>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.495G>T	1.37:g.8926510C>A	ENSP00000234590:p.Met165Ile						p.M165I	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	614	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	165			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.495G>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914938	0.92178	.	.	ENSG00000074800	ENST00000234590	T	0.49432	0.78	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.039097	0.85682	N	0.000000	T	0.54854	0.1884	L	0.44542	1.39	0.58432	D	0.999995	B;B;P;B;B	0.44986	0.234;0.352;0.847;0.196;0.146	B;P;P;B;B	0.51101	0.385;0.652;0.659;0.266;0.385	T	0.57997	-0.7714	10	0.87932	D	0	-31.7932	18.013	0.89230	0.0:1.0:0.0:0.0	.	69;132;3;72;165	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	I	165	ENSP00000234590:M165I	ENSP00000234590:M165I	M	-	3	0	ENO1	8849097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.784000	0.85713	2.492000	0.84095	0.563000	0.77884	ATG		0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428		299	150	1	0	4.02062e-123	1	4.92893e-123	299	150				
ABCC8	6833	broad.mit.edu	37	11	17426095	17426095	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:17426095C>T	ENST00000389817.3	-	28	3589	c.3521G>A	c.(3520-3522)tGc>tAc	p.C1174Y	ABCC8_ENST00000302539.4_Missense_Mutation_p.C1175Y			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1174	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GATGAAGTAGCACACGATGGC	0.597																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3523-3525)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						103.0	78.0	87.0					11																	17426095		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17426095C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3521G>A	11.37:g.17426095C>T	ENSP00000374467:p.Cys1174Tyr					ABCC8_ENST00000389817.3_Missense_Mutation_p.C1174Y	p.C1175Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	28	3649	-			1174			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3524G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	4.319	0.058499	0.08339	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.87887	-2.31;-2.31	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	N	0.00985	-1.075	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.68557	-0.5377	10	0.02654	T	1	.	19.0064	0.92852	0.0:1.0:0.0:0.0	.	1174	Q09428	ABCC8_HUMAN	Y	1174;1175	ENSP00000374467:C1174Y;ENSP00000303960:C1175Y	ENSP00000303960:C1175Y	C	-	2	0	ABCC8	17382671	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.883000	0.63128	2.477000	0.83638	0.514000	0.50259	TGC		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		8	149	0	0	0	1	0	8	149				
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:141759688T>C	ENST00000549489.2	+	33	4076	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000475668.2_Silent_p.P1327P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463																																						ENST00000475668.2																			2	Substitution - coding silent(2)	p.P1327P(2)	prostate(2)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3979-3981)ccT>ccC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50.0	43.0	45.0					7																	141759688		1935	4135	6070	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759688T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3981T>C	7.37:g.141759688T>C						MGAM_ENST00000549489.2_Silent_p.P1327P	p.P1327P			O43451	MGA_HUMAN			33	4035	+	Melanoma(164;0.0272)		1327			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3981T>C	CCDS47727.1																																																																																				0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	66	0	0	0	1	0	3	66				
MAVS	57506	broad.mit.edu	37	20	3845153	3845153	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:3845153C>T	ENST00000428216.2	+	6	1004	c.876C>T	c.(874-876)aaC>aaT	p.N292N	MAVS_ENST00000416600.2_Silent_p.N151N|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	292					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCTGCCAACTCTCTGCCCT	0.602																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(874-876)aaC>aaT		mitochondrial antiviral signaling protein							87.0	75.0	79.0					20																	3845153		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3845153C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.876C>T	20.37:g.3845153C>T						MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.N151N	p.N292N	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	1004	+			292					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	c.876C>T	CCDS33437.1																																																																																				0.602	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		12	44	0	0	0	1	0	12	44				
MYBL2	4605	broad.mit.edu	37	20	42311445	42311445	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:42311445C>T	ENST00000217026.4	+	4	325	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYBL2_ENST00000396863.4_Silent_p.D42D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	66	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGCACTGACCAGCAATGCC	0.527																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(196-198)gaC>gaT		v-myb avian myeloblastosis viral oncogene homolog-like 2							227.0	223.0	224.0					20																	42311445		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42311445C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.198C>T	20.37:g.42311445C>T						MYBL2_ENST00000396863.4_Silent_p.D42D	p.D66D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	325	+		Myeloproliferative disorder(115;0.00452)	66			HTH myb-type 1.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.198C>T	CCDS13322.1																																																																																				0.527	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		25	1469	0	0	0	1	0	25	1469				
PDP2	57546	broad.mit.edu	37	16	66918367	66918367	+	Silent	SNP	C	C	T	rs79985162		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:66918367C>T	ENST00000311765.2	+	2	514	c.180C>T	c.(178-180)tgC>tgT	p.C60C	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	60					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TTACTCTGTGCAAAGCCTACA	0.473																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(178-180)tgC>tgT		pyruvate dehyrogenase phosphatase catalytic subunit 2							73.0	78.0	76.0					16																	66918367		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66918367C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.180C>T	16.37:g.66918367C>T						PDP2_ENST00000568720.1_Intron	p.C60C	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	514	+		Ovarian(137;0.0563)	60					A8K924	Silent	SNP	ENST00000311765.2	37	c.180C>T	CCDS10822.1																																																																																				0.473	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		22	187	0	0	0	1	0	22	187				
OTOF	9381	broad.mit.edu	37	2	26703722	26703722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:26703722C>G	ENST00000272371.2	-	15	1861	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000403946.3_Missense_Mutation_p.D579H|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000402415.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	579					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)					TTGGAGGTGTCTACGATCTCC	0.662																																					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.(1735-1737)Gac>Cac		otoferlin							53.0	51.0	52.0					2																	26703722		2203	4300	6503	SO:0001583	missense	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.chr2:26703722C>G	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.1735G>C	2.37:g.26703722C>G	ENSP00000272371:p.Asp579His					OTOF_ENST00000403946.3_Missense_Mutation_p.D579H	p.D579H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			15	1861	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		579					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1735G>C	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616640	0.87359	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.81415	-1.49;-1.49	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.91558	0.5262	10	0.72032	D	0.01	-38.9833	18.3623	0.90379	0.0:1.0:0.0:0.0	.	579	Q9HC10	OTOF_HUMAN	H	579	ENSP00000272371:D579H;ENSP00000385255:D579H	ENSP00000272371:D579H	D	-	1	0	OTOF	26557226	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.651000	0.83577	2.435000	0.82474	0.462000	0.41574	GAC		0.662	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			5	17	0	0	0	1	0	5	17				
CADPS	8618	broad.mit.edu	37	3	62451127	62451127	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:62451127T>A	ENST00000383710.4	-	26	3902		c.e26-2		CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000462768.1_Splice_Site|CADPS_ENST00000357948.3_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTAACGAACTAGAAAAACAG	0.368																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.e26-2		Ca++-dependent secretion activator							89.0	96.0	94.0					3																	62451127		2203	4300	6503	SO:0001630	splice_region_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451127T>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3553-2A>T	3.37:g.62451127T>A						CADPS_ENST00000283269.9_Splice_Site|CADPS_ENST00000357948.3_Splice_Site|CADPS_ENST00000462768.1_Splice_Site		NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3902	-		Lung SC(41;0.0452)						A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37		CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180240	0.57800	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000473635;ENST00000357948;ENST00000283269;ENST00000466621	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62426167	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.698000	0.84413	2.288000	0.76882	0.482000	0.46254	.		0.368	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	Intron	7	137	0	0	0	1	0	7	137				
NF1	4763	broad.mit.edu	37	17	29556075	29556075	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:29556075G>A	ENST00000358273.4	+	21	2825	c.2442G>A	c.(2440-2442)aaG>aaA	p.K814K	NF1_ENST00000356175.3_Silent_p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	814					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATTGTTAAGAGGCGAATGT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2440-2442)aaG>aaA		neurofibromin 1							38.0	35.0	36.0					17																	29556075		2202	4299	6501	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556075G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2442G>A	17.37:g.29556075G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.K814K	p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2825	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	814					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2442G>A	CCDS42292.1																																																																																				0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		68	87	0	0	0	1	0	68	87				
SORD	6652	broad.mit.edu	37	15	45361216	45361216	+	Missense_Mutation	SNP	C	C	T	rs55901542|rs397787697		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr15:45361216C>T	ENST00000267814.9	+	7	932	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SORD_ENST00000558580.1_Missense_Mutation_p.T230M	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	251					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		ATCGAGTGCACGGGGGCAGAG	0.587																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(751-753)aCg>aTg		sorbitol dehydrogenase	NADH(DB00157)						45.0	42.0	43.0					15																	45361216		2198	4298	6496	SO:0001583	missense	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45361216C>T		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.752C>T	15.37:g.45361216C>T	ENSP00000267814:p.Thr251Met					SORD_ENST00000558580.1_Missense_Mutation_p.T230M	p.T251M	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	7	932	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	251					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	c.752C>T	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500938	0.64298	.	.	ENSG00000140263	ENST00000267814	T	0.04603	3.59	4.74	4.74	0.60224	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.103279	0.64402	D	0.000004	T	0.30262	0.0759	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.962	T	0.44667	-0.9313	10	0.72032	D	0.01	-15.406	16.7098	0.85382	0.0:1.0:0.0:0.0	.	172;251	B4DKI2;Q00796	.;DHSO_HUMAN	M	251	ENSP00000267814:T251M	ENSP00000267814:T251M	T	+	2	0	SORD	43148508	1.000000	0.71417	0.931000	0.37212	0.243000	0.25628	7.520000	0.81821	2.177000	0.69029	0.462000	0.41574	ACG		0.587	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			13	59	0	0	0	1	0	13	59				
CEP63	80254	broad.mit.edu	37	3	134277147	134277147	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:134277147C>G	ENST00000337090.3	+	13	1804	c.1631C>G	c.(1630-1632)cCa>cGa	p.P544R	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.P544R|CEP63_ENST00000606977.1_Missense_Mutation_p.P544R|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000383229.3_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	544					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATCTTTAAACCAACACACAGC	0.299																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1630-1632)cCa>cGa		centrosomal protein 63kDa							60.0	61.0	61.0					3																	134277147		2203	4299	6502	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134277147C>G	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1631C>G	3.37:g.134277147C>G	ENSP00000336524:p.Pro544Arg					CEP63_ENST00000606977.1_Missense_Mutation_p.P544R|CEP63_ENST00000513612.2_Missense_Mutation_p.P544R|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron	p.P544R			Q96MT8	CEP63_HUMAN			13	1804	+			544					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1631C>G	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.887|9.887	1.203210|1.203210	0.22121|0.22121	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000337090;ENST00000513612|ENST00000504929	T;T|.	0.16457|.	2.34;2.34|.	4.87|4.87	2.94|2.94	0.34122|0.34122	.|.	0.865013|.	0.10153|.	N|.	0.709361|.	T|T	0.39332|0.39332	0.1074|0.1074	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|.	0.32467|.	0.372|.	B|.	0.33196|.	0.159|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|5	0.15066|.	T|.	0.55|.	-6.0E-4|-6.0E-4	5.4788|5.4788	0.16710|0.16710	0.2602:0.6404:0.0:0.0994|0.2602:0.6404:0.0:0.0994	.|.	544|.	Q96MT8|.	CEP63_HUMAN|.	R|E	544|233	ENSP00000336524:P544R;ENSP00000426129:P544R|.	ENSP00000336524:P544R|.	P|Q	+|+	2|1	0|0	CEP63|CEP63	135759837|135759837	0.043000|0.043000	0.20138|0.20138	0.083000|0.083000	0.20561|0.20561	0.993000|0.993000	0.82548|0.82548	0.394000|0.394000	0.20834|0.20834	1.411000|1.411000	0.46957|0.46957	0.467000|0.467000	0.42956|0.42956	CCA|CAA		0.299	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		13	93	0	0	0	1	0	13	93				
MICALL1	85377	broad.mit.edu	37	22	38323722	38323722	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:38323722T>C	ENST00000215957.6	+	9	1896	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	590	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCAGCTCAGGTCCCCAGCCAG	0.657																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1768-1770)ggT>ggC		MICAL-like 1							75.0	82.0	79.0					22																	38323722		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323722T>C	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1770T>C	22.37:g.38323722T>C						MICALL1_ENST00000402631.1_3'UTR	p.G590G	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			9	1896	+	Melanoma(58;0.045)		590			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1770T>C	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	T	0.872	-0.731589	0.03135	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.36413	0.0966	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	.	15.0784	0.72093	0.0:0.3978:0.5141:0.0881	.	.	.	.	P	168	.	.	S	+	1	0	MICALL1	36653668	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.434000	0.02425	-2.613000	0.00444	-0.440000	0.05779	TCC		0.657	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		5	118	0	0	0	1	0	5	118				
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTATTTCTTTAGGTTATTGTG	0.299			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.e18-1		A kinase (PRKA) anchor protein 9							33.0	34.0	34.0					7																	91667731		2202	4289	6491	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91667731A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4375-1A>T	7.37:g.91667731A>T						AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site				Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		18	4599	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)							A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Splice_Site	SNP	ENST00000359028.2	37			.	.	.	.	.	.	.	.	.	.	A	19.69	3.874587	0.72180	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5989	0.62007	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP9	91505667	1.000000	0.71417	0.954000	0.39281	0.937000	0.57800	5.928000	0.70088	2.008000	0.58898	0.477000	0.44152	.		0.299	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	Intron	5	43	0	0	0	1	0	5	43				
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							165.0	165.0	165.0					2																	32832520		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832520A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1A>T	2.37:g.32832520A>T								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052658	0.55218	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2661	0.73663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686024	1.000000	0.71417	0.933000	0.37362	0.419000	0.31324	9.335000	0.96500	1.994000	0.58287	0.477000	0.44152	.		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	13	454	0	0	0	1	0	13	454				
EDEM2	55741	broad.mit.edu	37	20	33722751	33722751	+	Splice_Site	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:33722751G>C	ENST00000374492.3	-	6	597	c.492C>G	c.(490-492)gcC>gcG	p.A164A	EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000540582.1_Splice_Site_p.A123A|EDEM2_ENST00000374491.3_Splice_Site_p.A127A	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	164					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTCTGAAAGGCTGAACAAT	0.542																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.e10-1		ER degradation enhancer, mannosidase alpha-like 2							68.0	62.0	64.0					20																	33722751		2203	4300	6503	SO:0001630	splice_region_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33722751G>C	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.491-1C>G	20.37:g.33722751G>C						EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Splice_Site_p.A127_splice|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Splice_Site_p.A164_splice	p.A123_splice			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		10	1090	-			164					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Splice_Site	SNP	ENST00000374492.3	37	c.367_splice	CCDS13247.1																																																																																				0.542	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217	Silent	10	247	0	0	0	1	0	10	247				
TUBB1	81027	broad.mit.edu	37	20	57599336	57599336	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:57599336C>T	ENST00000217133.1	+	4	1123	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	285					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGAGCCCTCTCCGTGGCCGAG	0.647																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(853-855)tCc>tTc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						51.0	46.0	48.0					20																	57599336		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599336C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.854C>T	20.37:g.57599336C>T	ENSP00000217133:p.Ser285Phe						p.S285F	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1123	+	all_lung(29;0.00711)		285						Missense_Mutation	SNP	ENST00000217133.1	37	c.854C>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517238	0.64634	.	.	ENSG00000101162	ENST00000217133	D	0.85629	-2.01	5.34	5.34	0.76211	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.364444	0.29861	N	0.011013	D	0.93766	0.8007	H	0.98701	4.305	0.20307	N	0.999919	P	0.47484	0.896	P	0.48524	0.58	D	0.89626	0.3852	10	0.87932	D	0	.	18.0067	0.89211	0.0:1.0:0.0:0.0	.	285	Q9H4B7	TBB1_HUMAN	F	285	ENSP00000217133:S285F	ENSP00000217133:S285F	S	+	2	0	TUBB1	57032731	0.643000	0.27269	0.023000	0.16930	0.943000	0.58893	6.037000	0.70956	2.509000	0.84616	0.561000	0.74099	TCC		0.647	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		56	72	0	0	0	1	0	56	72				
SAMD9	54809	broad.mit.edu	37	7	92732553	92732553	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:92732553G>A	ENST00000379958.2	-	3	3127	c.2858C>T	c.(2857-2859)aCa>aTa	p.T953I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	953						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTTTCTGTCCCCCAGAA	0.398																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2857-2859)aCa>aTa		sterile alpha motif domain containing 9							93.0	93.0	93.0					7																	92732553		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92732553G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2858C>T	7.37:g.92732553G>A	ENSP00000369292:p.Thr953Ile						p.T953I	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3127	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		953					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2858C>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.357071	0.05138	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.22743	1.94;2.74	5.04	-2.85	0.05734	.	1.365110	0.05115	N	0.489601	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30446	-0.9978	10	0.49607	T	0.09	1.1947	0.9653	0.01404	0.2797:0.1009:0.2226:0.3968	.	953	Q5K651	SAMD9_HUMAN	I	953	ENSP00000369292:T953I;ENSP00000414529:T953I	ENSP00000369292:T953I	T	-	2	0	SAMD9	92570489	0.003000	0.15002	0.005000	0.12908	0.595000	0.36748	0.196000	0.17176	-0.418000	0.07450	0.609000	0.83330	ACA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		3	119	0	0	0	1	0	3	119				
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1						developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.e5-1		absent in melanoma 1							129.0	126.0	127.0					6																	106975178		2203	4300	6503	SO:0001630	splice_region_variant	202						sugar binding	g.chr6:106975178A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3189-1A>T	6.37:g.106975178A>T								NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	5	3675	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)						Q6P2P0|Q9BTM3	Splice_Site	SNP	ENST00000369066.3	37		CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126822	0.77549	.	.	ENSG00000112297	ENST00000369066	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIM1	107081871	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	7.659000	0.83766	2.126000	0.65437	0.528000	0.53228	.		0.358	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		Intron	5	112	0	0	0	1	0	5	112				
B9D1	27077	broad.mit.edu	37	17	19250621	19250621	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:19250621A>C	ENST00000261499.4	-	5	508	c.365T>G	c.(364-366)tTt>tGt	p.F122C	MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C|B9D1_ENST00000477478.2_Missense_Mutation_p.L98V|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C|B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	122	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCTGGGACAAACATGGGGAT	0.463																																						ENST00000477478.2																			0				large_intestine(3)|urinary_tract(1)	4						c.(292-294)Ttg>Gtg		B9 protein domain 1							135.0	121.0	126.0					17																	19250621		2203	4300	6503	SO:0001583	missense	27077				cilium assembly	centrosome|microtubule basal body	protein binding	g.chr17:19250621A>C	BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.365T>G	17.37:g.19250621A>C	ENSP00000261499:p.Phe122Cys					B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C|B9D1_ENST00000261499.4_Missense_Mutation_p.F122C|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C	p.L98V			Q9UPM9	B9D1_HUMAN			5	625	-	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)		0			B9.		Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	c.292T>G	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474337	0.84640	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89717	0.3916	10	0.66056	D	0.02	.	13.3685	0.60698	1.0:0.0:0.0:0.0	.	122	Q9UPM9	B9D1_HUMAN	C	122;122;122;122;113	ENSP00000378977:F122C;ENSP00000261499:F122C;ENSP00000378978:F122C;ENSP00000268841:F122C;ENSP00000410835:F113C	ENSP00000261499:F122C	F	-	2	0	B9D1	19191214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.986000	0.88173	2.197000	0.70478	0.533000	0.62120	TTT		0.463	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1	NM_015681		23	210	0	0	0	1	0	23	210				
AHNAK2	113146	broad.mit.edu	37	14	105419890	105419890	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:105419890A>T	ENST00000333244.5	-	7	2017	c.1898T>A	c.(1897-1899)tTa>tAa	p.L633*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	633						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGTCTTTTAATCCTTCCTC	0.413																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1897-1899)tTa>tAa		AHNAK nucleoprotein 2							444.0	451.0	448.0					14																	105419890		2059	4198	6257	SO:0001587	stop_gained	113146					nucleus		g.chr14:105419890A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1898T>A	14.37:g.105419890A>T	ENSP00000353114:p.Leu633*					AHNAK2_ENST00000557457.1_Intron	p.L633*	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2017	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	633					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.1898T>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	23.3	4.402824	0.83230	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.68	-7.35	0.01422	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	5.4755	0.16694	0.3131:0.0:0.3868:0.3001	.	.	.	.	X	633	.	ENSP00000353114:L633X	L	-	2	0	AHNAK2	104490935	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.335000	0.07873	-2.353000	0.00615	-0.651000	0.03910	TTA		0.413	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	182	0	0	0	1	0	6	182				
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e3-1		F-box protein 7							64.0	65.0	64.0					22																	32879882		2203	4300	6503	SO:0001630	splice_region_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32879882A>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.418-1A>T	22.37:g.32879882A>T						FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site		NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			3	744	+								B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Splice_Site	SNP	ENST00000266087.7	37		CCDS13907.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854895	0.71719	.	.	ENSG00000100225	ENST00000266087;ENST00000452138;ENST00000382058;ENST00000397426;ENST00000444207	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5387	0.67979	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO7	31209882	1.000000	0.71417	0.940000	0.37924	0.950000	0.60333	6.046000	0.71029	2.174000	0.68829	0.528000	0.53228	.		0.353	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		Intron	8	167	0	0	0	1	0	8	167				
OR2M2	391194	broad.mit.edu	37	1	248343613	248343613	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:248343613G>A	ENST00000359682.2	+	1	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCACTGTCTGGCTCTGAATGT	0.413																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(325-327)gGc>gAc		olfactory receptor, family 2, subfamily M, member 2							199.0	213.0	209.0					1																	248343613		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343613G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.326G>A	1.37:g.248343613G>A	ENSP00000352710:p.Gly109Asp						p.G109D	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	326	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		109					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.326G>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	11.18	1.562971	0.27915	.	.	ENSG00000198601	ENST00000359682	T	0.09723	2.95	1.41	0.0691	0.14372	GPCR, rhodopsin-like superfamily (1);	0.267324	0.19626	U	0.109782	T	0.24314	0.0589	M	0.73217	2.22	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.01791	-1.1273	10	0.87932	D	0	.	7.8032	0.29187	0.0:0.3679:0.632:0.0	.	109	Q96R28	OR2M2_HUMAN	D	109	ENSP00000352710:G109D	ENSP00000352710:G109D	G	+	2	0	OR2M2	246410236	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.390000	0.07332	0.755000	0.32990	0.454000	0.30748	GGC		0.413	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		8	488	0	0	0	1	0	8	488				
CEP83	51134	broad.mit.edu	37	12	94772668	94772668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:94772668A>T	ENST00000397809.5	-	7	1249	c.700T>A	c.(700-702)Tta>Ata	p.L234I	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I|CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		226					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCAGCCTTTAATTCCGCTACT	0.438																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(700-702)Tta>Ata		coiled-coil domain containing 41							149.0	142.0	144.0					12																	94772668		1841	4105	5946	SO:0001583	missense	51134							g.chr12:94772668A>T																												ENST00000397809.5:c.700T>A	12.37:g.94772668A>T	ENSP00000380911:p.Leu234Ile					CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I	p.L234I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			7	1249	-			226					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.700T>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894832	0.33442	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.69	3.32	0.38043	.	.	.	.	.	T	0.21022	0.0506	M	0.63843	1.955	0.31115	N	0.709521	P;P;P	0.35628	0.513;0.513;0.513	B;B;B	0.34873	0.103;0.191;0.103	T	0.26710	-1.0095	9	0.32370	T	0.25	0.0297	0.9418	0.01357	0.4746:0.154:0.2235:0.1478	.	234;201;226	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	I	234;234;201;234	ENSP00000344655:L234I;ENSP00000380911:L234I;ENSP00000380909:L201I;ENSP00000448913:L234I	ENSP00000344655:L234I	L	-	1	2	CCDC41	93296799	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.721000	0.47260	0.429000	0.26202	0.477000	0.44152	TTA		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			104	176	0	0	0	1	0	104	176				
ENO3	2027	broad.mit.edu	37	17	4858898	4858898	+	Splice_Site	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:4858898T>C	ENST00000323997.6	+	8	996	c.864T>C	c.(862-864)ccT>ccC	p.P288P	ENO3_ENST00000518175.1_Splice_Site_p.P288P|ENO3_ENST00000519584.1_Splice_Site_p.P245P	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	288					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAACTATCCTGGTGAGGCGT	0.522																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.e8+1		enolase 3 (beta, muscle)							121.0	119.0	120.0					17																	4858898		2203	4300	6503	SO:0001630	splice_region_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858898T>C	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.865+1T>C	17.37:g.4858898T>C						ENO3_ENST00000519584.1_Splice_Site_p.P245_splice|ENO3_ENST00000518175.1_Splice_Site_p.P288_splice	p.P288_splice	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			8	996	+			288					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Splice_Site	SNP	ENST00000323997.6	37	c.865_splice	CCDS11062.1																																																																																				0.522	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		Silent	9	953	0	0	0	1	0	9	953				
PARP4	143	broad.mit.edu	37	13	25058816	25058816	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr13:25058816C>T	ENST00000381989.3	-	12	1528	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	475	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAATAAATCCCACTTCCAAGG	0.428																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1423-1425)Ggg>Agg		poly (ADP-ribose) polymerase family, member 4							195.0	179.0	184.0					13																	25058816		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25058816C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1423G>A	13.37:g.25058816C>T	ENSP00000371419:p.Gly475Arg						p.G475R	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	12	1528	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	475			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1423G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293030	0.80914	.	.	ENSG00000102699	ENST00000381989	T	0.47177	0.85	4.35	4.35	0.52113	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	H	0.95780	3.72	0.49582	D	0.999801	D	0.89917	1.0	D	0.97110	1.0	D	0.84556	0.0647	10	0.87932	D	0	-15.0445	14.4154	0.67145	0.0:1.0:0.0:0.0	.	475	Q9UKK3	PARP4_HUMAN	R	475	ENSP00000371419:G475R	ENSP00000371419:G475R	G	-	1	0	PARP4	23956816	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.795000	0.69074	2.229000	0.72834	0.650000	0.86243	GGG		0.428	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		13	193	0	0	0	1	0	13	193				
SYNGAP1	8831	broad.mit.edu	37	6	33411389	33411389	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:33411389G>A	ENST00000418600.2	+	15	3161	c.3060G>A	c.(3058-3060)cgG>cgA	p.R1020R	SYNGAP1_ENST00000293748.5_Silent_p.R1020R|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.R961R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1020					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCACCCGTCGGCAGCTTTCAC	0.627																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(3058-3060)cgG>cgA		synaptic Ras GTPase activating protein 1							154.0	156.0	155.0					6																	33411389		2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411389G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3060G>A	6.37:g.33411389G>A						SYNGAP1_ENST00000428982.2_Silent_p.R961R|SYNGAP1_ENST00000293748.5_Silent_p.R1020R|SYNGAP1_ENST00000496374.1_3'UTR	p.R1020R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	3161	+			1020					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.3060G>A	CCDS34434.2																																																																																				0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		6	528	0	0	0	1	0	6	528				
AREL1	9870	broad.mit.edu	37	14	75142487	75142487	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:75142487T>C	ENST00000356357.4	-	8	1510	c.995A>G	c.(994-996)gAg>gGg	p.E332G	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	332					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCATCTTCCTCGTCAACAGC	0.527																																						ENST00000356357.4																			0											c.(994-996)gAg>gGg		apoptosis resistant E3 ubiquitin protein ligase 1							179.0	189.0	186.0					14																	75142487		2082	4229	6311	SO:0001583	missense	9870							g.chr14:75142487T>C	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.995A>G	14.37:g.75142487T>C	ENSP00000348714:p.Glu332Gly					AREL1_ENST00000557401.1_5'UTR	p.E332G	NM_001039479.1	NP_001034568.1					8	1510	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.995A>G	CCDS41971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.39|16.39	3.110905|3.110905	0.56398|0.56398	.|.	.|.	ENSG00000119682|ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202|ENST00000490805	T;T|.	0.51325|.	0.71;0.71|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.165992|.	0.64402|.	D|.	0.000015|.	T|T	0.62270|0.62270	0.2414|0.2414	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.29301|.	0.241;0.008|.	B;B|.	0.26969|.	0.075;0.01|.	T|T	0.59685|0.59685	-0.7408|-0.7408	10|5	0.21540|.	T|.	0.41|.	.|.	14.5566|14.5566	0.68103|0.68103	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	332;332|.	O15033-2;O15033|.	.;K0317_HUMAN|.	G|G	332;171;171|80	ENSP00000348714:E332G;ENSP00000452101:E171G|.	ENSP00000348714:E332G|.	E|R	-|-	2|1	0|2	KIAA0317|KIAA0317	74212240|74212240	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.367000|0.367000	0.29736|0.29736	7.139000|7.139000	0.77314|0.77314	2.180000|2.180000	0.69256|0.69256	0.383000|0.383000	0.25322|0.25322	GAG|AGG		0.527	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		4	603	0	0	0	1	0	4	603				
PTPRE	5791	broad.mit.edu	37	10	129854431	129854431	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:129854431T>A	ENST00000254667.3	+	7	744	c.465T>A	c.(463-465)aaT>aaA	p.N155K	PTPRE_ENST00000419012.2_Missense_Mutation_p.N155K|PTPRE_ENST00000306042.5_Missense_Mutation_p.N97K|PTPRE_ENST00000430713.2_Intron|PTPRE_ENST00000471218.1_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	155	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AACTGGCAAATAAAGAAGAAA	0.358																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(463-465)aaT>aaA		protein tyrosine phosphatase, receptor type, E							145.0	150.0	148.0					10																	129854431		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129854431T>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.465T>A	10.37:g.129854431T>A	ENSP00000254667:p.Asn155Lys					PTPRE_ENST00000306042.5_Missense_Mutation_p.N97K|PTPRE_ENST00000471218.1_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.N155K|PTPRE_ENST00000430713.2_Intron	p.N155K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			7	744	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	155			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.465T>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585646	0.66105	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.10860	2.83;2.83;2.83	4.83	-0.25	0.13007	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.117466	0.56097	D	0.000031	T	0.12944	0.0314	N	0.13371	0.34	0.80722	D	1	D;P;P;P	0.71674	0.998;0.78;0.86;0.78	D;B;B;B	0.72075	0.976;0.129;0.254;0.129	T	0.04347	-1.0958	10	0.31617	T	0.26	.	9.9414	0.41583	0.0:0.3587:0.0:0.6413	.	133;155;97;155	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	K	155;133;155;97	ENSP00000254667:N155K;ENSP00000402337:N155K;ENSP00000303350:N97K	ENSP00000254667:N155K	N	+	3	2	PTPRE	129744421	0.912000	0.30974	0.999000	0.59377	0.976000	0.68499	-0.045000	0.12003	0.043000	0.15746	-0.385000	0.06624	AAT		0.358	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			7	169	0	0	0	1	0	7	169				
LPHN3	23284	broad.mit.edu	37	4	62598838	62598838	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:62598838C>T	ENST00000514591.1	+	7	1090	c.761C>T	c.(760-762)cCt>cTt	p.P254L	LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000512091.2_Missense_Mutation_p.P254L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	254	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATACCTCCCCTTACCGATGG	0.423																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(760-762)cCt>cTt		latrophilin 3							74.0	67.0	69.0					4																	62598838		1916	4121	6037	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598838C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.761C>T	4.37:g.62598838C>T	ENSP00000422533:p.Pro254Leu					LPHN3_ENST00000506720.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P322L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P254L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P254L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P254L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P254L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P254L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P322L|LPHN3_ENST00000506746.1_Missense_Mutation_p.P322L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P254L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P322L	p.P254L			Q9HAR2	LPHN3_HUMAN			7	1508	+			254			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.761C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901293	0.72754	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.94879	0.8345	M	0.83118	2.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.994	D	0.95455	0.8538	10	0.87932	D	0	.	17.8426	0.88719	0.0:1.0:0.0:0.0	.	254;322;254	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	254;254;322;322;254;254;254;254;254;322;322;322;254;254;254;322;322;254	ENSP00000423388:P254L;ENSP00000422533:P254L;ENSP00000423787:P322L;ENSP00000425033:P322L;ENSP00000424120:P254L;ENSP00000439831:P254L;ENSP00000421476:P322L;ENSP00000424030:P322L;ENSP00000421372:P322L;ENSP00000425201:P254L;ENSP00000423434:P254L;ENSP00000421627:P254L;ENSP00000420931:P322L;ENSP00000425884:P322L;ENSP00000424258:P254L	ENSP00000280009:P254L	P	+	2	0	LPHN3	62281433	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.458000	0.83093	0.557000	0.71058	CCT		0.423	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	74	0	0	0	1	0	5	74				
INTS12	57117	broad.mit.edu	37	4	106604071	106604071	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:106604071C>A	ENST00000451321.2	-	7	1687	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	INTS12_ENST00000340139.5_Missense_Mutation_p.G403V|INTS12_ENST00000394735.1_Missense_Mutation_p.G403V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	403	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		ATTTCCATTCCCACTTAGTTG	0.463																																						ENST00000451321.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(1207-1209)gGg>gTg		integrator complex subunit 12							194.0	184.0	187.0					4																	106604071		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604071C>A		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1208G>T	4.37:g.106604071C>A	ENSP00000415433:p.Gly403Val					INTS12_ENST00000394735.1_Missense_Mutation_p.G403V|INTS12_ENST00000340139.5_Missense_Mutation_p.G403V	p.G403V	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1687	-			403			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.1208G>T	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.651381	0.29336	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.54675	0.56;0.56;0.56	5.04	4.19	0.49359	.	0.221448	0.47093	D	0.000254	T	0.39436	0.1078	L	0.27053	0.805	0.80722	D	1	B	0.32338	0.365	B	0.34722	0.188	T	0.31447	-0.9943	10	0.49607	T	0.09	-5.939	9.299	0.37833	0.0:0.7768:0.1466:0.0766	.	403	Q96CB8	INT12_HUMAN	V	403	ENSP00000378221:G403V;ENSP00000340737:G403V;ENSP00000415433:G403V	ENSP00000340737:G403V	G	-	2	0	INTS12	106823520	1.000000	0.71417	0.994000	0.49952	0.102000	0.19082	4.478000	0.60230	1.231000	0.43661	-0.302000	0.09304	GGG		0.463	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		4	218	1	0	0.014758	1	0.0151269	4	218				
AMOTL2	51421	broad.mit.edu	37	3	134079050	134079050	+	Missense_Mutation	SNP	C	C	T	rs547887711		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:134079050C>T	ENST00000422605.2	-	7	1947	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R592H|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R594H|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R652H			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	594					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						AGTGGTGTCACGCTGAGCAGC	0.602																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1954-1956)cGt>cAt		angiomotin like 2							101.0	73.0	83.0					3																	134079050		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134079050C>T	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.1781G>A	3.37:g.134079050C>T	ENSP00000409999:p.Arg594His					AMOTL2_ENST00000249883.5_Missense_Mutation_p.R594H|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R594H|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R592H	p.R652H	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			7	2133	-			594					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1955G>A		.	.	.	.	.	.	.	.	.	.	C	26.0	4.697902	0.88830	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.26660	1.74;1.75;1.76;1.72	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.982;0.995	T	0.52426	-0.8577	10	0.59425	D	0.04	-6.5128	18.7898	0.91969	0.0:1.0:0.0:0.0	.	592;594;652	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	H	594;594;652;592	ENSP00000249883:R594H;ENSP00000409999:R594H;ENSP00000424765:R652H;ENSP00000425475:R592H	ENSP00000249883:R594H	R	-	2	0	AMOTL2	135561740	1.000000	0.71417	0.195000	0.23364	0.770000	0.43624	5.799000	0.69101	2.417000	0.82017	0.561000	0.74099	CGT		0.602	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		6	20	0	0	0	1	0	6	20				
KIAA1755	85449	broad.mit.edu	37	20	36870120	36870120	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:36870120T>C	ENST00000279024.4	-	3	684	c.413A>G	c.(412-414)gAg>gGg	p.E138G		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	138										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GTAGGCTGGCTCTGGAACAGG	0.512																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(412-414)gAg>gGg		KIAA1755							102.0	101.0	102.0					20																	36870120		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36870120T>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.413A>G	20.37:g.36870120T>C	ENSP00000279024:p.Glu138Gly						p.E138G	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	684	-		Myeloproliferative disorder(115;0.00874)	138					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.413A>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084597	0.36758	.	.	ENSG00000149633	ENST00000279024	T	0.10668	2.85	5.84	-6.7	0.01766	.	0.712686	0.12595	N	0.455241	T	0.12050	0.0293	M	0.71206	2.165	0.09310	N	1	P	0.49635	0.926	P	0.44597	0.454	T	0.00501	-1.1702	10	0.62326	D	0.03	.	8.0035	0.30310	0.4304:0.0:0.2712:0.2984	.	138	Q5JYT7	K1755_HUMAN	G	138	ENSP00000279024:E138G	ENSP00000279024:E138G	E	-	2	0	KIAA1755	36303534	0.333000	0.24731	0.000000	0.03702	0.002000	0.02628	0.653000	0.24902	-1.778000	0.01282	0.533000	0.62120	GAG		0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		6	330	0	0	0	1	0	6	330				
FAM217A	222826	broad.mit.edu	37	6	4070052	4070052	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:4070052C>A	ENST00000274673.3	-	7	808	c.405G>T	c.(403-405)aaG>aaT	p.K135N	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	135																	GACCAACTTGCTTATCAACTG	0.393																																						ENST00000274673.3																			0											c.(403-405)aaG>aaT		family with sequence similarity 217, member A							80.0	74.0	76.0					6																	4070052		2203	4300	6503	SO:0001583	missense	222826							g.chr6:4070052C>A	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.405G>T	6.37:g.4070052C>A	ENSP00000274673:p.Lys135Asn					FAM217A_ENST00000380188.2_5'UTR	p.K135N	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	808	-			135					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.405G>T	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	C	6.999	0.554414	0.13374	.	.	ENSG00000145975	ENST00000274673;ENST00000470599	T	0.21031	2.03	5.34	1.55	0.23275	.	0.521808	0.19732	N	0.107340	T	0.05686	0.0149	L	0.32530	0.975	0.09310	N	1	P	0.46512	0.879	B	0.41988	0.372	T	0.18587	-1.0332	10	0.72032	D	0.01	-2.7617	4.2144	0.10528	0.0:0.5573:0.1708:0.2719	.	135	Q8IXS0	CF146_HUMAN	N	135;263	ENSP00000274673:K135N	ENSP00000274673:K135N	K	-	3	2	C6orf146	4015051	0.002000	0.14202	0.006000	0.13384	0.007000	0.05969	0.027000	0.13621	0.464000	0.27142	0.650000	0.86243	AAG		0.393	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		15	117	1	0	3.32936e-07	1	3.7004e-07	15	117				
SLC7A14	57709	broad.mit.edu	37	3	170198185	170198185	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:170198185G>T	ENST00000231706.5	-	7	2201	c.1886C>A	c.(1885-1887)gCc>gAc	p.A629D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	629					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GAGGCAAGGGGCCATGTAGGG	0.557																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1885-1887)gCc>gAc		solute carrier family 7, member 14							126.0	129.0	128.0					3																	170198185		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198185G>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1886C>A	3.37:g.170198185G>T	ENSP00000231706:p.Ala629Asp					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.A629D	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2201	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		629					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1886C>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502918	0.85176	.	.	ENSG00000013293	ENST00000231706	D	0.88509	-2.39	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94818	0.7984	10	0.87932	D	0	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	629	Q8TBB6	S7A14_HUMAN	D	629	ENSP00000231706:A629D	ENSP00000231706:A629D	A	-	2	0	SLC7A14	171680879	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.686000	0.91538	0.655000	0.94253	GCC		0.557	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		25	506	1	0	2.48779e-11	1	2.80733e-11	25	506				
MIS18BP1	55320	broad.mit.edu	37	14	45693666	45693666	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr14:45693666A>T	ENST00000310806.4	-	11	2582	c.2124T>A	c.(2122-2124)agT>agA	p.S708R		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	708					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTGTTTTTACTTTTATGAC	0.348																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2122-2124)agT>agA		MIS18 binding protein 1							69.0	70.0	70.0					14																	45693666		2203	4299	6502	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693666A>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2124T>A	14.37:g.45693666A>T	ENSP00000309790:p.Ser708Arg						p.S708R	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2582	-			708					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2124T>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	A	5.678	0.309609	0.10733	.	.	ENSG00000129534	ENST00000310806	T	0.21031	2.03	5.36	0.0493	0.14289	.	0.729507	0.14408	N	0.321445	T	0.16557	0.0398	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.23190	-1.0195	10	0.66056	D	0.02	-0.9237	4.399	0.11377	0.4861:0.3306:0.1833:0.0	.	708	Q6P0N0	M18BP_HUMAN	R	708	ENSP00000309790:S708R	ENSP00000309790:S708R	S	-	3	2	MIS18BP1	44763416	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.008000	0.12788	-0.148000	0.11234	0.533000	0.62120	AGT		0.348	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			4	59	0	0	0	1	0	4	59				
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:198265658T>A	ENST00000335508.6	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2497-2499)ttA>ttT		splicing factor 3b, subunit 1, 155kDa							53.0	53.0	53.0					2																	198265658		2201	4299	6500	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265658T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2499A>T	2.37:g.198265658T>A	ENSP00000335321:p.Leu833Phe						p.L833F	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2590	-			833					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2499A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959700	0.74016	.	.	ENSG00000115524	ENST00000335508	T	0.66280	-0.2	5.77	2.15	0.27550	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	M	0.91038	3.17	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.77262	-0.2653	10	0.87932	D	0	.	6.8117	0.23809	0.0:0.447:0.0:0.553	.	833	O75533	SF3B1_HUMAN	F	833	ENSP00000335321:L833F	ENSP00000335321:L833F	L	-	3	2	SF3B1	197973903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.868000	0.56055	0.540000	0.28808	0.533000	0.62120	TTA		0.328	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			4	45	0	0	0	1	0	4	45				
PLCZ1	89869	broad.mit.edu	37	12	18847883	18847883	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:18847883A>T	ENST00000538330.1	-	8	1149	c.768T>A	c.(766-768)agT>agA	p.S256R	PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R|PLCZ1_ENST00000542762.1_5'Flank|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S474R|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTTATGTTACTTGGGTTAA	0.289																																						ENST00000266505.7																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1420-1422)agT>agA		phospholipase C, zeta 1							73.0	75.0	74.0					12																	18847883		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18847883A>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.768T>A	12.37:g.18847883A>T	ENSP00000445880:p.Ser256Arg					PLCZ1_ENST00000447925.2_Missense_Mutation_p.S472R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S279R|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S281R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.S337R|PLCZ1_ENST00000538330.1_Missense_Mutation_p.S256R	p.S474R			Q86YW0	PLCZ1_HUMAN			12	1685	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		474			C2.			Missense_Mutation	SNP	ENST00000538330.1	37	c.1422T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.435|6.435	0.448477|0.448477	0.12223|0.12223	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421|ENST00000536023	T;T;T;T;T;T;T|.	0.62788|.	-0.0;2.13;2.13;-0.0;1.61;-0.0;-0.0|.	5.09|5.09	2.56|2.56	0.30785|0.30785	C2 membrane targeting protein (1);PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);|.	0.787160|.	0.11950|.	N|.	0.513763|.	T|.	0.10423|.	0.0255|.	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.15473|.	0.001;0.013|.	B;B|.	0.09377|.	0.002;0.004|.	T|.	0.21177|.	-1.0253|.	10|.	0.13853|.	T|.	0.58|.	.|.	0.8061|0.8061	0.01084|0.01084	0.4924:0.1667:0.1806:0.1603|0.4924:0.1667:0.1806:0.1603	.|.	474;256|.	Q86YW0;Q8N7S5|.	PLCZ1_HUMAN;.|.	R|K	256;474;472;279;337;281;209|44	ENSP00000445880:S256R;ENSP00000266505:S474R;ENSP00000402358:S472R;ENSP00000400504:S279R;ENSP00000443349:S337R;ENSP00000445026:S281R;ENSP00000445889:S209R|.	ENSP00000266505:S474R|.	S|X	-|-	3|1	2|0	PLCZ1|PLCZ1	18739150|18739150	0.000000|0.000000	0.05858|0.05858	0.042000|0.042000	0.18584|0.18584	0.063000|0.063000	0.16089|0.16089	0.609000|0.609000	0.24238|0.24238	0.778000|0.778000	0.33520|0.33520	0.260000|0.260000	0.18958|0.18958	AGT|TAA		0.289	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		4	126	0	0	0	1	0	4	126				
PITRM1	10531	broad.mit.edu	37	10	3181131	3181131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:3181131G>T	ENST00000224949.4	-	25	2916	c.2882C>A	c.(2881-2883)tCa>tAa	p.S961*	PITRM1_ENST00000451104.2_Nonsense_Mutation_p.S863*|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380989.2_Nonsense_Mutation_p.S962*|PITRM1_ENST00000380994.1_Nonsense_Mutation_p.S519*|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	961					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCTACGGTTGAGAAGACAGA	0.463																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2884-2886)tCa>tAa		pitrilysin metallopeptidase 1							187.0	187.0	187.0					10																	3181131		1983	4166	6149	SO:0001587	stop_gained	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3181131G>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2882C>A	10.37:g.3181131G>T	ENSP00000224949:p.Ser961*					PITRM1_ENST00000451104.2_Nonsense_Mutation_p.S863*|PITRM1_ENST00000224949.4_Nonsense_Mutation_p.S961*|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Nonsense_Mutation_p.S519*	p.S962*	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			25	2923	-			863					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Nonsense_Mutation	SNP	ENST00000224949.4	37	c.2885C>A	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	40	7.967438	0.98585	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.	.	.	5.54	5.54	0.83059	.	0.152297	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-17.3928	19.4783	0.94998	0.0:0.0:1.0:0.0	.	.	.	.	X	961;954;962;519;863;142	.	ENSP00000224949:S961X	S	-	2	0	PITRM1	3171131	1.000000	0.71417	0.101000	0.21167	0.004000	0.04260	8.749000	0.91619	2.598000	0.87819	0.462000	0.41574	TCA		0.463	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			35	412	1	0	4.65686e-17	1	5.36995e-17	35	412				
STRBP	55342	broad.mit.edu	37	9	125936121	125936121	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:125936121C>A	ENST00000348403.5	-	5	654	c.225G>T	c.(223-225)aaG>aaT	p.K75N	STRBP_ENST00000447404.2_Splice_Site_p.K75N|STRBP_ENST00000360998.3_Splice_Site_p.K61N	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	75	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACCTTGATCCCTAAAAATAA	0.388																																						ENST00000447404.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.e4-1		spermatid perinuclear RNA binding protein							142.0	133.0	136.0					9																	125936121		2203	4300	6503	SO:0001630	splice_region_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125936121C>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.225-1G>T	9.37:g.125936121C>A						STRBP_ENST00000360998.3_Splice_Site_p.K61_splice|STRBP_ENST00000348403.5_Splice_Site_p.K75_splice	p.K75_splice			Q96SI9	STRBP_HUMAN			4	529	-			75					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Splice_Site	SNP	ENST00000348403.5	37	c.224_splice	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482569	0.84747	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.19938	2.38;2.38;2.11	5.16	5.16	0.70880	.	0.278803	0.39615	N	0.001305	T	0.16854	0.0405	L	0.33485	1.01	0.80722	D	1	P	0.36789	0.57	B	0.25987	0.065	T	0.03212	-1.1060	10	0.41790	T	0.15	.	19.0076	0.92857	0.0:1.0:0.0:0.0	.	75	Q96SI9	STRBP_HUMAN	N	75;75;61	ENSP00000415968:K75N;ENSP00000321347:K75N;ENSP00000354271:K61N	ENSP00000321347:K75N	K	-	3	2	STRBP	124975942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.792000	0.47837	2.571000	0.86741	0.591000	0.81541	AAG		0.388	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		Missense_Mutation	63	52	1	0	2.84776e-26	1	3.34657e-26	63	52				
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:248112339C>G	ENST00000357191.3	+	1	180	c.180C>G	c.(178-180)ttC>ttG	p.F60L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(178-180)ttC>ttG		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							377.0	330.0	346.0					1																	248112339		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112339C>G	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.180C>G	1.37:g.248112339C>G	ENSP00000349719:p.Phe60Leu					OR2L13_ENST00000366478.2_Intron	p.F60L	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	180	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		60					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.180C>G	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800048	0.31869	.	.	ENSG00000196936	ENST00000357191	T	0.00768	5.72	1.48	-0.801	0.10893	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01353	0.0044	M	0.78344	2.41	0.09310	N	1	B	0.28667	0.219	B	0.30782	0.12	T	0.32851	-0.9891	9	0.52906	T	0.07	.	6.896	0.24257	0.0:0.5792:0.0:0.4208	.	60	Q8NGY9	OR2L8_HUMAN	L	60	ENSP00000349719:F60L	ENSP00000349719:F60L	F	+	3	2	OR2L8	246178962	0.000000	0.05858	0.145000	0.22337	0.779000	0.44077	-0.903000	0.04084	-0.037000	0.13646	0.298000	0.19748	TTC		0.413	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			782	1210	0	0	0	1	0	782	1210				
WDFY3	23001	broad.mit.edu	37	4	85731357	85731357	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:85731357C>G	ENST00000295888.4	-	14	2435	c.2028G>C	c.(2026-2028)gtG>gtC	p.V676V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Silent_p.V676V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	676					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGGTTCACTTTCTCCC	0.438																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2026-2028)gtG>gtC		WD repeat and FYVE domain containing 3							84.0	82.0	83.0					4																	85731357		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731357C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2028G>C	4.37:g.85731357C>G						WDFY3_ENST00000295888.4_Silent_p.V676V|WDFY3-AS1_ENST00000510449.1_RNA	p.V676V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2435	-		Hepatocellular(203;0.114)	676					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.2028G>C	CCDS3609.1																																																																																				0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		47	101	0	0	0	1	0	47	101				
ZFX	7543	broad.mit.edu	37	X	24225441	24225441	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:24225441A>T	ENST00000379177.1	+	7	1073		c.e7-1		ZFX_ENST00000338565.3_Intron|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000379188.3_Splice_Site	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked						death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTTCCTTTTTAGTGGATGATG	0.338																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.e7-1		zinc finger protein, X-linked							94.0	88.0	90.0					X																	24225441		2203	4300	6503	SO:0001630	splice_region_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24225441A>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.647-1A>T	X.37:g.24225441A>T						ZFX_ENST00000338565.3_Intron|ZFX_ENST00000304543.5_Splice_Site|ZFX_ENST00000459724.1_Splice_Site|ZFX_ENST00000540034.1_Splice_Site|ZFX_ENST00000539115.1_Splice_Site|ZFX_ENST00000379188.3_Splice_Site		NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			7	1073	+								B9EG97|O43668|Q8WYJ8	Splice_Site	SNP	ENST00000379177.1	37		CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267729	0.59540	.	.	ENSG00000005889	ENST00000379188;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000545937	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0178	0.64533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFX	24135362	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	8.910000	0.92685	1.755000	0.51935	0.481000	0.45027	.		0.338	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	Intron	5	183	0	0	0	1	0	5	183				
AHNAK	79026	broad.mit.edu	37	11	62299952	62299952	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:62299952G>T	ENST00000378024.4	-	5	2211	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	646					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)				ATGAACATCTGGACCTTCCCC	0.517																																						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.(1936-1938)cCa>cAa		AHNAK nucleoprotein							128.0	124.0	125.0					11																	62299952		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299952G>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.1937C>A	11.37:g.62299952G>T	ENSP00000367263:p.Pro646Gln					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P646Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2211	-		Melanoma(852;0.155)	646					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1937C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	8.699	0.909274	0.17833	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	5.15	2.22	0.28083	.	.	.	.	.	T	0.28732	0.0712	H	0.96970	3.915	0.09310	N	1	P	0.48911	0.917	P	0.56088	0.791	T	0.13575	-1.0504	9	0.44086	T	0.13	2.3992	8.9735	0.35921	0.2966:0.0:0.7034:0.0	.	646	Q09666	AHNK_HUMAN	Q	646	ENSP00000367263:P646Q	ENSP00000367263:P646Q	P	-	2	0	AHNAK	62056528	0.470000	0.25854	0.001000	0.08648	0.178000	0.23041	1.886000	0.39688	0.192000	0.20272	-0.698000	0.03680	CCA		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	184	1	0	0.00024832	1	0.000265594	4	184				
NR6A1	2649	broad.mit.edu	37	9	127289057	127289057	+	Splice_Site	SNP	C	C	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:127289057C>T	ENST00000487099.2	-	8	1359		c.e8+1		NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CAGCCACTCACCTTGATTTAG	0.512																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.e8+1		nuclear receptor subfamily 6, group A, member 1							181.0	156.0	164.0					9																	127289057		2203	4300	6503	SO:0001630	splice_region_variant	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127289057C>T	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1201+1G>A	9.37:g.127289057C>T						NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site		NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			8	1359	-								O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Splice_Site	SNP	ENST00000487099.2	37		CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.041080	0.93685	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4774	0.90798	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR6A1	126328878	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.228000	0.78079	2.665000	0.90641	0.655000	0.94253	.		0.512	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		Intron	6	301	0	0	0	1	0	6	301				
OR5T1	390155	broad.mit.edu	37	11	56043911	56043911	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:56043911C>A	ENST00000313033.2	+	1	883	c.797C>A	c.(796-798)aCa>aAa	p.T266K		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TATCATGGGACAATCCTCTTC	0.428																																						ENST00000313033.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(796-798)aCa>aAa		olfactory receptor, family 5, subfamily T, member 1							235.0	203.0	214.0					11																	56043911		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043911C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.797C>A	11.37:g.56043911C>A	ENSP00000323612:p.Thr266Lys						p.T266K	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	883	+	Esophageal squamous(21;0.00448)		266					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.797C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017641	0.54576	.	.	ENSG00000181698	ENST00000313033	T	0.00287	8.29	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.01092	0.0036	H	0.97131	3.945	0.09310	N	1	D	0.62365	0.991	D	0.74674	0.984	T	0.10245	-1.0638	10	0.87932	D	0	.	14.145	0.65344	0.0:1.0:0.0:0.0	.	266	Q8NG75	OR5T1_HUMAN	K	266	ENSP00000323612:T266K	ENSP00000323612:T266K	T	+	2	0	OR5T1	55800487	0.000000	0.05858	0.010000	0.14722	0.976000	0.68499	1.265000	0.33027	1.953000	0.56701	0.465000	0.42564	ACA		0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		9	665	1	0	4.68919e-08	1	5.24337e-08	9	665				
ANGPTL1	9068	broad.mit.edu	37	1	178834359	178834359	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:178834359G>T	ENST00000234816.2	-	3	1000	c.553C>A	c.(553-555)Ctt>Att	p.L185I	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L185I|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	185					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTATTGACAAGATCAGTCAAG	0.433																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(553-555)Ctt>Att		angiopoietin-like 1							110.0	95.0	100.0					1																	178834359		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834359G>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.553C>A	1.37:g.178834359G>T	ENSP00000234816:p.Leu185Ile					RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L185I	p.L185I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	1000	-			185					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.553C>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575863	0.45902	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.57752	0.38;0.38	5.32	5.32	0.75619	.	0.195479	0.46758	D	0.000273	T	0.43787	0.1263	L	0.38175	1.15	0.34279	D	0.681979	B	0.19706	0.038	B	0.15484	0.013	T	0.52094	-0.8621	10	0.38643	T	0.18	.	14.5624	0.68151	0.0:0.1463:0.8537:0.0	.	185	O95841	ANGL1_HUMAN	I	185;185;149	ENSP00000234816:L185I;ENSP00000356601:L185I	ENSP00000234816:L185I	L	-	1	0	ANGPTL1	177100982	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	4.017000	0.57167	2.639000	0.89480	0.650000	0.86243	CTT		0.433	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		41	312	1	0	6.19805e-25	1	7.26057e-25	41	312				
PAK2	5062	broad.mit.edu	37	3	196541320	196541320	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:196541320A>T	ENST00000327134.3	+	11	1257		c.e11-1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTGTATTTTTAGTTACCTGGT	0.363																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.e11-1		p21 protein (Cdc42/Rac)-activated kinase 2							154.0	157.0	156.0					3																	196541320		2203	4300	6503	SO:0001630	splice_region_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196541320A>T	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.936-1A>T	3.37:g.196541320A>T								NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	11	1257	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)							Q13154|Q6ISC3	Splice_Site	SNP	ENST00000327134.3	37		CCDS3321.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423714	0.83559	.	.	ENSG00000180370	ENST00000327134;ENST00000426668	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2355	0.82371	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK2	198025717	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	8.932000	0.92897	2.238000	0.73509	0.533000	0.62120	.		0.363	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	Intron	8	325	0	0	0	1	0	8	325				
FLG2	388698	broad.mit.edu	37	1	152324072	152324072	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152324072A>T	ENST00000388718.5	-	3	6262	c.6190T>A	c.(6190-6192)Tca>Aca	p.S2064T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2064					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGAACTGAGGATCCTGAC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6190-6192)Tca>Aca		filaggrin family member 2							539.0	478.0	499.0					1																	152324072		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324072A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6190T>A	1.37:g.152324072A>T	ENSP00000373370:p.Ser2064Thr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S2064T	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6262	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2064					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.6190T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	0.090	-1.169423	0.01660	.	.	ENSG00000143520	ENST00000388718	T	0.08102	3.13	4.69	-9.38	0.00623	.	.	.	.	.	T	0.00580	0.0019	N	0.01729	-0.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47799	-0.9089	9	0.15499	T	0.54	.	6.0604	0.19835	0.5417:0.2205:0.0:0.2378	.	2064	Q5D862	FILA2_HUMAN	T	2064	ENSP00000373370:S2064T	ENSP00000373370:S2064T	S	-	1	0	FLG2	150590696	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.508000	0.00960	-2.286000	0.00670	-1.594000	0.00841	TCA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	2498	0	0	0	1	0	10	2498				
MYH15	22989	broad.mit.edu	37	3	108147577	108147577	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:108147577A>T	ENST00000273353.3	-	28	3580	c.3524T>A	c.(3523-3525)aTa>aAa	p.I1175K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1175						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCTTAGTTATTTCCAGCTG	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3523-3525)aTa>aAa		myosin, heavy chain 15							156.0	150.0	152.0					3																	108147577		1943	4146	6089	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147577A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3524T>A	3.37:g.108147577A>T	ENSP00000273353:p.Ile1175Lys						p.I1175K	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			28	3580	-			1175						Missense_Mutation	SNP	ENST00000273353.3	37	c.3524T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315702	0.81469	.	.	ENSG00000144821	ENST00000273353	T	0.78364	-1.17	5.58	3.17	0.36434	Myosin tail (1);	.	.	.	.	T	0.78317	0.4264	L	0.54323	1.7	0.52501	D	0.999951	P	0.41624	0.757	P	0.50708	0.648	T	0.77776	-0.2461	9	0.87932	D	0	.	7.431	0.27128	0.8018:0.0:0.0694:0.1287	.	1175	Q9Y2K3	MYH15_HUMAN	K	1175	ENSP00000273353:I1175K	ENSP00000273353:I1175K	I	-	2	0	MYH15	109630267	1.000000	0.71417	0.007000	0.13788	0.993000	0.82548	5.181000	0.65054	1.021000	0.39600	0.528000	0.53228	ATA		0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		5	251	0	0	0	1	0	5	251				
RWDD4	201965	broad.mit.edu	37	4	184570668	184570668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:184570668A>T	ENST00000326397.5	-	5	689	c.417T>A	c.(415-417)agT>agA	p.S139R	RWDD4_ENST00000510968.1_Missense_Mutation_p.S44R|RWDD4_ENST00000512740.1_Missense_Mutation_p.S76R|RWDD4_ENST00000327570.9_Missense_Mutation_p.S139R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	139										large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTTTTTTCTTACTTGATGGGG	0.328																																						ENST00000326397.5																			0				large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						c.(415-417)agT>agA		RWD domain containing 4							173.0	171.0	171.0					4																	184570668		2202	4300	6502	SO:0001583	missense	201965							g.chr4:184570668A>T	BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.417T>A	4.37:g.184570668A>T	ENSP00000388920:p.Ser139Arg					RWDD4_ENST00000512740.1_Missense_Mutation_p.S76R|RWDD4_ENST00000327570.9_Missense_Mutation_p.S139R|RWDD4_ENST00000510968.1_Missense_Mutation_p.S44R	p.S139R	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN			5	689	-			139					B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Missense_Mutation	SNP	ENST00000326397.5	37	c.417T>A	CCDS34111.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678796	0.47886	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000510968;ENST00000512740	T;T;T;T	0.47869	0.83;0.83;0.87;0.88	5.21	4.03	0.46877	.	0.224657	0.52532	D	0.000073	T	0.41858	0.1177	L	0.53729	1.69	0.53005	D	0.999962	B	0.24258	0.1	B	0.24006	0.05	T	0.26538	-1.0100	10	0.39692	T	0.17	-15.8385	10.2096	0.43132	0.9217:0.0:0.0783:0.0	.	139	Q6NW29	RWDD4_HUMAN	R	139;139;44;76	ENSP00000388920:S139R;ENSP00000332177:S139R;ENSP00000426329:S44R;ENSP00000423598:S76R	ENSP00000388920:S139R	S	-	3	2	RWDD4	184807662	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.233000	0.43027	0.940000	0.37473	0.455000	0.32223	AGT		0.328	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361499.2	NM_152682		5	204	0	0	0	1	0	5	204				
SLC26A4	5172	broad.mit.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	SLC26A4_ENST00000544569.1_5'Flank|SLC26A4_ENST00000541474.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438									Pendred syndrome																													ENST00000265715.3																			1	Substitution - coding silent(1)	p.S347S(1)	kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1039-1041)tcG>tcA		solute carrier family 26 (anion exchanger), member 4		G		0,4406		0,0,2203	165.0	153.0	157.0		1041	-11.2	0.1	7	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A4	NM_000441.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		347/781	107329537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107329537G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1041G>A	7.37:g.107329537G>A							p.S347S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			9	1265	+			347					B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1041G>A	CCDS5746.1																																																																																				0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		56	319	0	0	0	1	0	56	319				
OR10S1	219873	broad.mit.edu	37	11	123848361	123848361	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:123848361G>T	ENST00000531945.1	-	1	127	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTCTCCGTTGTCATGGTCAT	0.478																																						ENST00000531945.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(37-39)aCa>aAa		olfactory receptor, family 10, subfamily S, member 1							89.0	89.0	89.0					11																	123848361		2201	4299	6500	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848361G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.38C>A	11.37:g.123848361G>T	ENSP00000431914:p.Thr13Lys						p.T13K	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	127	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	13					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.38C>A	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.875094	0.02550	.	.	ENSG00000196248	ENST00000531945	T	0.00245	8.45	4.75	-0.793	0.10922	.	1.403140	0.05487	N	0.555868	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02464	-1.1155	10	0.15066	T	0.55	0.0165	8.2595	0.31777	0.0:0.146:0.5028:0.3511	.	13	Q8NGN2	O10S1_HUMAN	K	13	ENSP00000431914:T13K	ENSP00000431914:T13K	T	-	2	0	OR10S1	123353571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	-0.290000	0.09025	-0.919000	0.02742	ACA		0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		28	1022	1	0	5.26018e-13	1	5.99076e-13	28	1022				
TARS2	80222	broad.mit.edu	37	1	150476838	150476838	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:150476838G>A	ENST00000369064.3	+	14	1679	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	TARS2_ENST00000369054.2_Missense_Mutation_p.G419S|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	549					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGATGCCCTGGGCCGGCCACA	0.502																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1645-1647)Ggc>Agc		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						80.0	63.0	69.0					1																	150476838		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150476838G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1645G>A	1.37:g.150476838G>A	ENSP00000358060:p.Gly549Ser					TARS2_ENST00000369054.2_Missense_Mutation_p.G419S|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S|TARS2_ENST00000463555.1_3'UTR	p.G549S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	1679	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		549					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1645G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205524	0.79127	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.05	4.11	0.48088	Aminoacyl-tRNA synthetase, class II (1);	0.060536	0.64402	D	0.000004	T	0.80954	0.4723	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85659	0.1287	9	0.72032	D	0.01	-6.6972	14.2191	0.65812	0.0:0.1505:0.8495:0.0	.	419;274;549	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	S	419;549;274;274	.	ENSP00000358047:G274S	G	+	1	0	TARS2	148743462	1.000000	0.71417	0.975000	0.42487	0.410000	0.31052	5.282000	0.65615	1.324000	0.45282	0.655000	0.94253	GGC		0.502	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		34	243	0	0	0	1	0	34	243				
CTSE	1510	broad.mit.edu	37	1	206325277	206325277	+	Missense_Mutation	SNP	A	A	T	rs201675695	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:206325277A>T	ENST00000358184.2	+	5	620	c.502A>T	c.(502-504)Agt>Tgt	p.S168C	CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.S173C|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTTTGGAGAAAGTGTCACAGA	0.547																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(517-519)Agt>Tgt		cathepsin E							163.0	147.0	153.0					1																	206325277		2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206325277A>T	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.502A>T	1.37:g.206325277A>T	ENSP00000350911:p.Ser168Cys					CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C|CTSE_ENST00000358184.2_Missense_Mutation_p.S168C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C	p.S173C			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		5	635	+			173					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.517A>T	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340507	0.60963	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.24	4.12	0.48240	.	0.127697	0.53938	D	0.000047	T	0.76842	0.4044	M	0.87328	2.875	0.45415	D	0.99839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79050	-0.1962	10	0.62326	D	0.03	.	10.7631	0.46277	0.925:0.0:0.075:0.0	.	93;168;168	B4DNU8;P14091-2;P14091-1	.;.;.	C	168;173;168;93	ENSP00000350911:S168C;ENSP00000354337:S173C;ENSP00000353350:S168C;ENSP00000394607:S93C	ENSP00000350911:S168C	S	+	1	0	CTSE	204491900	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.478000	0.60230	1.017000	0.39495	-0.256000	0.11100	AGT		0.547	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		54	391	0	0	0	1	0	54	391				
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site|CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4-1		zinc finger protein 253							25.0	25.0	25.0					19																	20002281		2092	4245	6337	SO:0001630	splice_region_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002281A>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.227-1A>T	19.37:g.20002281A>T						ZNF253_ENST00000355650.4_Splice_Site		NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	318	+								A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Splice_Site	SNP	ENST00000589717.1	37		CCDS42532.1	.	.	.	.	.	.	.	.	.	.	.	3.790	-0.043857	0.07452	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.185	0.185	0.15096	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6115	0.04892	0.5567:0.0:0.4433:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF253	19863281	0.000000	0.05858	0.254000	0.24359	0.185000	0.23345	-0.081000	0.11321	0.251000	0.21505	0.248000	0.18094	.		0.313	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	Intron	3	26	0	0	0	1	0	3	26				
SMC5	23137	broad.mit.edu	37	9	72912910	72912910	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:72912910T>A	ENST00000361138.5	+	9	1140	c.1082T>A	c.(1081-1083)gTa>gAa	p.V361E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	361					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCTTTAATAGTAAAGCAAAAT	0.363																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(1081-1083)gTa>gAa		structural maintenance of chromosomes 5							97.0	101.0	100.0					9																	72912910		2203	4299	6502	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72912910T>A	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1082T>A	9.37:g.72912910T>A	ENSP00000354957:p.Val361Glu						p.V361E	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			9	1140	+			361					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1082T>A	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.976919	0.53720	.	.	ENSG00000198887	ENST00000361138	T	0.16073	2.37	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.208186	0.43260	D	0.000593	T	0.09423	0.0232	N	0.03324	-0.35	0.42587	D	0.993238	P	0.50369	0.934	P	0.45971	0.499	T	0.15150	-1.0447	10	0.02654	T	1	-17.5096	16.3527	0.83220	0.0:0.0:0.0:1.0	.	361	Q8IY18	SMC5_HUMAN	E	361	ENSP00000354957:V361E	ENSP00000354957:V361E	V	+	2	0	SMC5	72102730	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.489000	0.73641	2.268000	0.75426	0.482000	0.46254	GTA		0.363	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		6	161	0	0	0	1	0	6	161				
ZNF577	84765	broad.mit.edu	37	19	52381753	52381753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:52381753C>A	ENST00000301399.5	-	5	441	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	ZNF577_ENST00000420592.1_Nonsense_Mutation_p.E26*|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E26*|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.E26*|ZNF577_ENST00000485702.1_5'UTR	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCACATCTTCGAATGACAAT	0.453																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(76-78)Gaa>Taa		zinc finger protein 577							118.0	102.0	108.0					19																	52381753		2203	4300	6503	SO:0001587	stop_gained	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52381753C>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.76G>T	19.37:g.52381753C>A	ENSP00000301399:p.Glu26*					ZNF577_ENST00000301399.5_Nonsense_Mutation_p.E26*|ZNF577_ENST00000485702.1_5'UTR|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.E26*|ZNF577_ENST00000412216.1_Nonsense_Mutation_p.E26*	p.E26*			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	4	1409	-		all_neural(266;0.0602)	0			KRAB.		A8K0B4|A8K6Z7|C9JFB9	Nonsense_Mutation	SNP	ENST00000301399.5	37	c.76G>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	29.3	4.994116	0.93167	.	.	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390;ENST00000453272;ENST00000446514;ENST00000419138	.	.	.	3.49	2.45	0.29901	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0422	0.19740	0.0:0.8582:0.0:0.1418	.	.	.	.	X	26	.	ENSP00000301399:E26X	E	-	1	0	ZNF577	57073565	0.824000	0.29247	0.764000	0.31436	0.504000	0.33889	1.157000	0.31724	1.923000	0.55706	0.591000	0.81541	GAA		0.453	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		22	675	1	0	1.7367e-05	1	1.89039e-05	22	675				
ZNF789	285989	broad.mit.edu	37	7	99085048	99085048	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:99085048T>C	ENST00000331410.5	+	5	1485	c.1215T>C	c.(1213-1215)tcT>tcC	p.S405S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTGGAAAATCTTTCAAGTGGC	0.403																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(1213-1215)tcT>tcC		zinc finger protein 789							105.0	100.0	102.0					7																	99085048		2203	4300	6503	SO:0001819	synonymous_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99085048T>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1215T>C	7.37:g.99085048T>C						ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	p.S405S	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	1485	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		405					A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	c.1215T>C	CCDS34693.1																																																																																				0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		4	352	0	0	0	1	0	4	352				
SLCO1B7	338821	broad.mit.edu	37	12	21196392	21196392	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:21196392T>A	ENST00000421593.2	+	6	711	c.711T>A	c.(709-711)aaT>aaA	p.N237K	SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.N284K|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N284K	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAAATCCAAATAAACCACAGA	0.343																																						ENST00000381541.3																			0											c.(850-852)aaT>aaA									99.0	99.0	99.0					12																	21196392		2202	4299	6501	SO:0001583	missense	0							g.chr12:21196392T>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.711T>A	12.37:g.21196392T>A	ENSP00000394168:p.Asn237Lys					LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.N237K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.N284K|SLCO1B3_ENST00000553473.1_Intron	p.N284K							7	917	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.852T>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.892422	0.00522	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80653	-1.4;-1.4;1.28	3.17	-1.31	0.09230	.	0.695643	0.14266	N	0.330466	T	0.48943	0.1528	N	0.03194	-0.395	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.43015	-0.9417	10	0.06757	T	0.87	.	4.1861	0.10398	0.0:0.1373:0.4551:0.4076	.	237;284	G3V0H7;F5H094	.;.	K	284;284;237	ENSP00000370952:N284K;ENSP00000452013:N284K;ENSP00000394168:N237K	ENSP00000370952:N284K	N	+	3	2	SLCO1B7;RP11-545J16.1	21087659	0.000000	0.05858	0.009000	0.14445	0.047000	0.14425	-0.260000	0.08708	0.004000	0.14682	-0.902000	0.02854	AAT		0.343	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		6	87	0	0	0	1	0	6	87				
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(3526-3528)acT>acA		myosin, heavy chain 15							156.0	150.0	152.0					3																	108147573		1946	4152	6098	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147573A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3528T>A	3.37:g.108147573A>T							p.T1176T	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			28	3584	-			1176						Silent	SNP	ENST00000273353.3	37	c.3528T>A	CCDS43127.1																																																																																				0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		12	243	0	0	0	1	0	12	243				
EPYC	1833	broad.mit.edu	37	12	91366748	91366748	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:91366748G>C	ENST00000261172.3	-	4	442	c.350C>G	c.(349-351)aCc>aGc	p.T117S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	117	LRRNT.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAAAAGACAGGTTGGAAAGTC	0.343																																						ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(349-351)aCc>aGc		epiphycan							94.0	98.0	97.0					12																	91366748		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91366748G>C	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.350C>G	12.37:g.91366748G>C	ENSP00000261172:p.Thr117Ser						p.T117S	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			4	442	-			117			LRRNT.		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.350C>G	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246295	0.59103	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.02158	4.42;4.42	5.79	5.79	0.91817	Leucine-rich repeat-containing N-terminal (1);	0.091769	0.85682	D	0.000000	T	0.04679	0.0127	L	0.55103	1.725	0.49389	D	0.999784	P	0.42357	0.777	B	0.39562	0.303	T	0.43750	-0.9372	10	0.48119	T	0.1	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	117	Q99645	EPYC_HUMAN	S	117	ENSP00000261172:T117S;ENSP00000448272:T117S	ENSP00000261172:T117S	T	-	2	0	EPYC	89890879	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.584000	0.53936	2.736000	0.93811	0.655000	0.94253	ACC		0.343	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		47	96	0	0	0	1	0	47	96				
TOPORS	10210	broad.mit.edu	37	9	32541877	32541877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:32541877A>T	ENST00000360538.2	-	3	2762	c.2646T>A	c.(2644-2646)caT>caA	p.H882Q	TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	882	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ttttctttttATGGTGTTTAG	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2644-2646)caT>caA		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							151.0	157.0	155.0					9																	32541877		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541877A>T	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2646T>A	9.37:g.32541877A>T	ENSP00000353735:p.His882Gln					TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q	p.H882Q	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2762	-			882			Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2646T>A	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244297	0.39697	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.91	4.76	0.60689	.	0.000000	0.49305	D	0.000157	T	0.09555	0.0235	L	0.29908	0.895	0.32113	N	0.589054	P	0.35272	0.493	B	0.28991	0.097	T	0.17561	-1.0365	10	0.24483	T	0.36	-15.314	5.0089	0.14302	0.6863:0.1565:0.1572:0.0	.	882	Q9NS56	TOPRS_HUMAN	Q	882;817	ENSP00000353735:H882Q;ENSP00000369187:H817Q	ENSP00000353735:H882Q	H	-	3	2	TOPORS	32531877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.101000	0.31037	1.058000	0.40530	0.528000	0.53228	CAT		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	197	0	0	0	1	0	7	197				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			55073							g.chr17:43587576A>G	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.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	23	0	0	0	1	0	4	23				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e8-1		solute carrier family 35, member F1																																				SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118635189A>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1003-1A>T	6.37:g.118635189A>T								NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1203	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953854	0.73902	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118741882	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.987000	0.88182	2.186000	0.69663	0.533000	0.62120	.		0.473	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	9	105	0	0	0	1	0	9	105				
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.e2-2		zinc binding alcohol dehydrogenase domain containing 2							47.0	46.0	46.0					18																	72914297		2203	4300	6503	SO:0001630	splice_region_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914297T>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.210-2A>T	18.37:g.72914297T>A						ZADH2_ENST00000537114.2_Splice_Site		NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	499	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)						A8KA15|B4DZ91	Splice_Site	SNP	ENST00000322342.3	37		CCDS12008.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533999	0.64972	.	.	ENSG00000180011	ENST00000322342	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0442	0.64695	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZADH2	71043285	1.000000	0.71417	0.975000	0.42487	0.877000	0.50540	7.817000	0.86213	0.893000	0.36288	0.529000	0.55759	.		0.428	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	Intron	8	250	0	0	0	1	0	8	250				
ANGPTL7	10218	broad.mit.edu	37	1	11249984	11249984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:11249984delA	ENST00000376819.3	+	1	587	c.348delA	c.(346-348)gcafs	p.A117fs	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	117					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTGCAGGCAGCACAGACGG	0.562																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(346-348)gcfs		angiopoietin-like 7							79.0	73.0	75.0					1																	11249984		2203	4300	6503	SO:0001589	frameshift_variant	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249984delA	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.348delA	1.37:g.11249984delA	ENSP00000366015:p.Ala117fs					MTOR_ENST00000361445.4_Intron	p.A117fs	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	587	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	117					B2R9B2|F1T0A6|Q4ZGK4	Frame_Shift_Del	DEL	ENST00000376819.3	37	c.348delA	CCDS128.1																																																																																				0.562	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		36	172						36	172	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)gccfs	p.A3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.A3375fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10198-10200)cccfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12422832_12422833insC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10204dupC	1.37:g.12422838_12422838dupC	ENSP00000350854:p.Ala3400fs					VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	p.P3400fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	51	10328_10329	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3399						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.10198_10199insC	CCDS30588.1																																																																																				0.426	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		8	458						8	458	---	---	---	---
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)accfs	p.T38fs				H0Y7S4	PRA26_HUMAN	PRAME family member 26	0																	TCCTGCACTGGTTTTTTGTTCC	0.505																																						ENST00000423177.1																			0				breast(1)|lung(1)	2						c.(112-114)cagfs																																						SO:0001589	frameshift_variant	645359							g.chr1:13219469_13219470insT			1p36.21	2014-02-12	2013-09-24		ENSG00000229571	ENSG00000229571			49178	protein-coding gene	gene with protein product							Standard	XM_005276124		Approved			H0Y7S4	OTTHUMG00000074741	ENST00000423177.1:c.113dupA	1.37:g.13219475_13219475dupT	ENSP00000414869:p.Thr38fs						p.Q38fs							1	111_112	-									Frame_Shift_Ins	INS	ENST00000423177.1	37	c.112_113insA																																																																																					0.505	PRAMEF26-001	PUTATIVE	not_best_in_genome_evidence|mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000158526.1			7	1754						7	1754	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs						p.HP2248fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	446						7	446	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-102)ctccccfs	p.LP33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(97-99)cccfs		immunoglobin superfamily, member 21																																				SO:0001589	frameshift_variant	84966					extracellular region		g.chr1:18554419_18554420insC	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.104dupC	1.37:g.18554425_18554425dupC	ENSP00000251296:p.Leu33fs						p.P33fs	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	2	481_482	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	33			Ig-like 1.		Q8NBR8	Frame_Shift_Ins	INS	ENST00000251296.1	37	c.98_99insC	CCDS184.1																																																																																				0.574	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		7	387						7	387	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		12	357						12	357	---	---	---	---
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G	rs202132789		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)ccafs	p.P937fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.P937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.P937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2809-2811)cacfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23417944_23417945insG	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2811dupC	1.37:g.23417950_23417950dupG	ENSP00000303758:p.Pro937fs					LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs	p.H937fs			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3611_3612	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Ins	INS	ENST00000302291.4	37	c.2810_2811insC	CCDS30628.1																																																																																				0.495	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		14	804						14	804	---	---	---	---
RSRP1	57035	broad.mit.edu	37	1	25573155	25573160	+	In_Frame_Del	DEL	GAACCC	GAACCC	-	rs201238140		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:25573155_25573160delGAACCC	ENST00000243189.7	-	2	571_576	c.295_300delGGGTTC	c.(295-300)gggttcdel	p.GF99del	RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del|C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		99	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCCTGGTGAACCCGTAGCGCCTC	0.67																																						ENST00000243189.7																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(295-300)del		chromosome 1 open reading frame 63																																				SO:0001651	inframe_deletion	57035							g.chr1:25573155_25573160delGAACCC																												ENST00000243189.7:c.295_300delGGGTTC	1.37:g.25573155_25573160delGAACCC	ENSP00000243189:p.Gly99_Phe100del					C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del|C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del	p.GF99del	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	571_576	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	99			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	In_Frame_Del	DEL	ENST00000243189.7	37	c.295_300delGGGTTC	CCDS260.1																																																																																				0.670	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			11	71						11	71	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs					ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	324						7	324	---	---	---	---
AGO4	192670	broad.mit.edu	37	1	36306816	36306817	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:36306816_36306817insC	ENST00000373210.3	+	14	2020_2021	c.1775_1776insC	c.(1774-1779)caccccfs	p.HP592fs		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	592	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				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)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GATGTCACACACCCCCCAGCAG	0.554																																						ENST00000373210.3																			0											c.(1774-1776)cccfs		argonaute RISC catalytic component 4																																				SO:0001589	frameshift_variant	192670							g.chr1:36306816_36306817insC	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1781dupC	1.37:g.36306822_36306822dupC	ENSP00000362306:p.His592fs						p.P592fs	NM_017629.3	NP_060099.2					14	2020_2021	+								A7MD27	Frame_Shift_Ins	INS	ENST00000373210.3	37	c.1775_1776insC	CCDS397.1																																																																																				0.554	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		7	474						7	474	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1402-1407)ccgcgcfs		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)																																			SO:0001589	frameshift_variant	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36935322_36935323insG	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1405dupC	1.37:g.36935329_36935329dupG	ENSP00000362198:p.Ser469fs					CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs	p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			11	1951_1952	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	469			Fibronectin type-III 4.			Frame_Shift_Ins	INS	ENST00000373106.1	37	c.1404_1405insC	CCDS413.1																																																																																				0.634	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		19	478						19	478	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		9	525						9	525	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43223458	43223459	+	Frame_Shift_Ins	INS	-	-	G	rs548639069|rs559371057	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:43223458_43223459insG	ENST00000296388.5	-	5	1126_1127	c.1075_1076insC	c.(1075-1077)cgtfs	p.R359fs	LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.R359fs|LEPRE1_ENST00000236040.4_Frame_Shift_Ins_p.R359fs			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	359					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.R359S(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCACCTCACGGGGGCCGATG	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			2	Substitution - Missense(2)	p.R359S(2)	lung(2)	large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1075-1077)tgafs		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43223458_43223459insG	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1076dupC	1.37:g.43223463_43223463dupG	ENSP00000296388:p.Arg359fs		OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000296388.5_Frame_Shift_Ins_p.*359fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.*359fs	p.*359fs	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			5	1115_1116	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	359					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Ins	INS	ENST00000296388.5	37	c.1075_1076insC	CCDS472.2																																																																																				0.535	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		7	1205						7	1205	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46180107	46180115	+	In_Frame_Del	DEL	ATTGCTGAT	ATTGCTGAT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:46180107_46180115delATTGCTGAT	ENST00000396478.3	-	8	1435_1443	c.1333_1341delATCAGCAAT	c.(1333-1341)atcagcaatdel	p.ISN445del	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	445						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)					CTATTCCTTCATTGCTGATGCCCCCAATT	0.388																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1333-1341)del		intracisternal A particle-promoted polypeptide																																				SO:0001651	inframe_deletion	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46180107_46180115delATTGCTGAT	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.1333_1341delATCAGCAAT	1.37:g.46180107_46180115delATTGCTGAT	ENSP00000379739:p.Ile445_Asn447del						p.ISN445del	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			8	1435_1443	-	Acute lymphoblastic leukemia(166;0.155)		445					A2A6V4|D3DQ11|Q8N5C3	In_Frame_Del	DEL	ENST00000396478.3	37	c.1333_1341delATCAGCAAT	CCDS30702.1																																																																																				0.388	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		18	52						18	52	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:50666498_50666499insC	ENST00000371823.4	+	7	1015_1016	c.791_792insC	c.(790-795)gtccccfs	p.VP264fs	ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.VP269fs|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000448907.2_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.53																																						ENST00000371821.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(805-807)gccfs		ELAV like neuron-specific RNA binding protein 4																																				SO:0001589	frameshift_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666498_50666499insC	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.797dupC	1.37:g.50666504_50666504dupC	ENSP00000360888:p.Val264fs					ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371824.1_Intron	p.A269fs			P26378	ELAV4_HUMAN			7	1121_1122	+			264					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Frame_Shift_Ins	INS	ENST00000371823.4	37	c.806_807insC	CCDS553.1																																																																																				0.530	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		8	656						8	656	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53728210	53728211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:53728210_53728211insC	ENST00000306052.6	-	11	1782_1783	c.1681_1682insG	c.(1681-1683)gacfs	p.D561fs	LRP8_ENST00000354412.3_Frame_Shift_Ins_p.D432fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.D114fs|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.D561fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.D391fs|LRP8_ENST00000460214.1_5'Flank	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTGGCCTGGTCCCCCCAGTCA	0.515																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(1681-1683)ccafs		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor																																				SO:0001589	frameshift_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53728210_53728211insC	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1682dupG	1.37:g.53728216_53728216dupC	ENSP00000303634:p.Asp561fs					LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs	p.P561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			11	1782_1783	-			561					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Ins	INS	ENST00000306052.6	37	c.1681_1682insG	CCDS578.1																																																																																				0.515	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		9	860						9	860	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs					FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		32	473						32	473	---	---	---	---
PARS2	25973	broad.mit.edu	37	1	55223704	55223705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:55223704_55223705insG	ENST00000371279.3	-	2	1212_1213	c.1130_1131insC	c.(1129-1131)cctfs	p.P377fs		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	377					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGCCCTTCTTAGGGGGGATGAG	0.609																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(1129-1131)caafs		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55223704_55223705insG	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1131dupC	1.37:g.55223710_55223710dupG	ENSP00000360327:p.Pro377fs						p.Q377fs	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	1212_1213	-			377					A8K0W4|Q9H6S5|Q9UFT1	Frame_Shift_Ins	INS	ENST00000371279.3	37	c.1130_1131insC	CCDS597.1																																																																																				0.609	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		10	299						10	299	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		8	216						8	216	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038815	75038815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:75038815delC	ENST00000326665.5	-	14	2797	c.2579delG	c.(2578-2580)ggafs	p.G860fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		860	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTGCTTGTCCTATGGGGTC	0.537																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2578-2580)gafs		chromosome 1 open reading frame 173							149.0	146.0	147.0					1																	75038815		2203	4300	6503	SO:0001589	frameshift_variant	127254							g.chr1:75038815delC																												ENST00000326665.5:c.2579delG	1.37:g.75038815delC	ENSP00000322609:p.Gly860fs					C1orf173_ENST00000433746.2_5'UTR	p.G860fs	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2797	-			860			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Del	DEL	ENST00000326665.5	37	c.2579delG	CCDS30755.1																																																																																				0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	593						7	593	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555|rs185821757		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)gggcacfs	p.H432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1291-1296)ggacaafs		guanylate binding protein 7																																				SO:0001589	frameshift_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89613321_89613322insC	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1294dupG	1.37:g.89613328_89613328dupC	ENSP00000294671:p.His432fs						p.Q432fs	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	8	1431_1432	-		Lung NSC(277;0.0908)	432						Frame_Shift_Ins	INS	ENST00000294671.2	37	c.1293_1294insG	CCDS720.1																																																																																				0.436	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		11	201						11	201	---	---	---	---
SLC16A1	6566	broad.mit.edu	37	1	113471889	113471890	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:113471889_113471890insG	ENST00000538576.1	-	2	872_873	c.41_42insC	c.(40-42)ccafs	p.P14fs	SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.P14fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.P14fs|SLC16A1_ENST00000478835.1_5'UTR	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	14					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGCCTCCATCTGGGGGGGTGTA	0.426																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(40-42)cgafs		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113471889_113471890insG	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.42dupC	1.37:g.113471896_113471896dupG	ENSP00000441065:p.Pro14fs					SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.R14fs|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.R14fs	p.R14fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	2	872_873	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	14					Q49A45|Q5T8R6|Q9NSJ9	Frame_Shift_Ins	INS	ENST00000538576.1	37	c.41_42insC	CCDS858.1																																																																																				0.426	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		7	112						7	112	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)gccfs	p.A1066fs	HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.A1021fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.A672fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.A1021fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.A1032fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.A692fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.A672fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.A1066fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3196-3198)cccfs		homeodomain interacting protein kinase 1																																				SO:0001589	frameshift_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515697_114515698insC	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3202dupC	1.37:g.114515703_114515703dupC	ENSP00000358571:p.Ala1066fs					HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs	p.P1066fs			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3428_3429	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1066			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Frame_Shift_Ins	INS	ENST00000369558.1	37	c.3196_3197insC	CCDS867.1																																																																																				0.614	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		13	618						13	618	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs					OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR	p.T243fs			Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		10	275						10	275	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)cacfs	p.H1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						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)		TTCTGGTTGGTGGGGGGACTCT	0.371																																						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.(3025-3027)ccafs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584454_118584455insG		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.3026dupC	1.37:g.118584460_118584460dupG	ENSP00000337804:p.His1009fs						p.P1009fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	3090_3091	-	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)	1009					Q8NAZ1|Q9NT21	Frame_Shift_Ins	INS	ENST00000336338.5	37	c.3025_3026insC	CCDS899.1																																																																																				0.371	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		8	576						8	576	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		34	1517						34	1517	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584232	145584233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:145584232_145584233insC	ENST00000393045.2	+	11	1473_1474	c.1383_1384insC	c.(1384-1386)cccfs	p.P462fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.P427fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	462					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGATCTGCCCCCTACCAA	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1381-1386)ctccccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584232_145584233insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1388dupC	1.37:g.145584237_145584237dupC	ENSP00000376765:p.Pro462fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.LP426fs	p.LP461fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1473_1474	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		461					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1383_1384insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	855						7	855	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147092680	147092681	+	Frame_Shift_Ins	INS	-	-	C	rs35292683		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:147092680_147092681insC	ENST00000234739.3	+	8	3459_3460	c.2719_2720insC	c.(2719-2721)tccfs	p.S907fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	907	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCATTAAGTCCCCCCCTGTT	0.619			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2719-2721)cccfs		B-cell CLL/lymphoma 9																																				SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092680_147092681insC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2726dupC	1.37:g.147092687_147092687dupC	ENSP00000234739:p.Ser907fs						p.P907fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3459_3460	+	all_hematologic(923;0.115)		907			Pro-rich.		Q5T489	Frame_Shift_Ins	INS	ENST00000234739.3	37	c.2719_2720insC	CCDS30833.1																																																																																				0.619	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		11	293						11	293	---	---	---	---
CIART	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-807)aaccccfs	p.NP268fs	C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.NP268fs|C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.NP180fs	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		268					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.52																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(802-804)accfs		chromosome 1 open reading frame 51																																				SO:0001589	frameshift_variant	148523							g.chr1:150259011_150259012insC																												ENST00000290363.5:c.809dupC	1.37:g.150259017_150259017dupC	ENSP00000290363:p.Asn268fs					C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs	p.T268fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1252_1253	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		268					B2RD43|D3DV01|Q8N795|Q96MG6	Frame_Shift_Ins	INS	ENST00000290363.5	37	c.803_804insC	CCDS949.1																																																																																				0.520	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			7	897						7	897	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150445611	150445612	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150445611_150445612insC	ENST00000369068.4	+	11	4191_4192	c.4187_4188insC	c.(4186-4191)ggccccfs	p.GP1396fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Frame_Shift_Ins_p.GP1370fs	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1396	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCAGCAGTGGCCCCCCCTTGG	0.614																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(4108-4110)gccfs		regulation of nuclear pre-mRNA domain containing 2																																				SO:0001589	frameshift_variant	23248						protein binding	g.chr1:150445611_150445612insC	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4194dupC	1.37:g.150445618_150445618dupC	ENSP00000358064:p.Gly1396fs					RPRD2_ENST00000369068.4_Frame_Shift_Ins_p.A1396fs|RPRD2_ENST00000492220.1_3'UTR	p.A1370fs			Q5VT52	RPRD2_HUMAN			10	4174_4175	+			1396			Pro-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Frame_Shift_Ins	INS	ENST00000369068.4	37	c.4109_4110insC	CCDS44216.1																																																																																				0.614	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		12	164						12	164	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1810-1812)gggfs	p.G604fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.G474fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.G522fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	604					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569																																						ENST00000369064.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)	p.C603C(2)|p.G604W(1)	urinary_tract(1)|lung(1)|endometrium(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1807-1812)tgggggfs		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)																																			SO:0001589	frameshift_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150477198_150477199insG	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1815dupG	1.37:g.150477204_150477204dupG	ENSP00000358060:p.Gly604fs					TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	p.WG603fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	1843_1844	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		603					Q53GW7|Q96I50|Q9H9V2	Frame_Shift_Ins	INS	ENST00000369064.3	37	c.1809_1810insG	CCDS952.1																																																																																				0.569	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		8	810						8	810	---	---	---	---
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(136-138)cccfs	p.P46fs	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.P46fs|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.P46fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	46					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(133-138)gcccccfs		extracellular matrix protein 1																																				SO:0001589	frameshift_variant	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150482150_150482151insC	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.141dupC	1.37:g.150482156_150482156dupC	ENSP00000358043:p.Pro46fs					ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs	p.AP45fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		3	260_261	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		45					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Frame_Shift_Ins	INS	ENST00000369047.4	37	c.135_136insC	CCDS953.1																																																																																				0.584	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		7	740						7	740	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150933381	150933382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150933381_150933382insC	ENST00000271640.5	+	16	3033_3034	c.2843_2844insC	c.(2842-2847)caccccfs	p.HP948fs	SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.HP948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	948	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGGACTCCCACCCCCCAGATC	0.574																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2842-2844)cccfs		SET domain, bifurcated 1																																				SO:0001589	frameshift_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933381_150933382insC	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2849dupC	1.37:g.150933387_150933387dupC	ENSP00000271640:p.His948fs					SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P948fs	p.P948fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	3033_3034	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		948			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Ins	INS	ENST00000271640.5	37	c.2843_2844insC	CCDS44217.1																																																																																				0.574	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			7	778						7	778	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276875	152276875	+	Frame_Shift_Del	DEL	C	C	-	rs116505293	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152276875delC	ENST00000368799.1	-	3	10522	c.10487delG	c.(10486-10488)ggafs	p.G3496fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3496	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCCTGATTGTTC	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10486-10488)gafs		filaggrin							271.0	267.0	268.0					1																	152276875		2203	4297	6500	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276875delC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10487delG	1.37:g.152276875delC	ENSP00000357789:p.Gly3496fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3496fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10522	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3496			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.10487delG	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		33	806						33	806	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152785008	152785009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:152785008_152785009insC	ENST00000360090.3	+	1	562_563	c.86_87insC	c.(85-90)tgccccfs	p.CP29fs		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCTAGATGCCCCCCAAAGT	0.629																																						ENST00000360090.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18						c.(85-87)tccfs		late cornified envelope 1B																																				SO:0001589	frameshift_variant	353132				keratinization			g.chr1:152785008_152785009insC	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.92dupC	1.37:g.152785014_152785014dupC	ENSP00000353203:p.Cys29fs						p.S29fs	NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	562_563	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Pro-rich.		A4IF40	Frame_Shift_Ins	INS	ENST00000360090.3	37	c.86_87insC	CCDS1027.1																																																																																				0.629	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		8	348						8	348	---	---	---	---
CRTC2	200186	broad.mit.edu	37	1	153924672	153924673	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:153924672_153924673insC	ENST00000368633.1	-	10	945_946	c.818_819insG	c.(817-819)ggcfs	p.G273fs	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	273					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGTAGGGAGCCCCCCGTGTT	0.574																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(817-819)gtcfs		CREB regulated transcription coactivator 2																																				SO:0001589	frameshift_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924672_153924673insC	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.819dupG	1.37:g.153924678_153924678dupC	ENSP00000357622:p.Gly273fs					CRTC2_ENST00000368630.3_Intron	p.V273fs	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		10	945_946	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		273					Q6UUV8|Q7Z3X7|Q8N332	Frame_Shift_Ins	INS	ENST00000368633.1	37	c.818_819insG	CCDS30875.1																																																																																				0.574	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		8	444						8	444	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(421-426)ttggggfs		HCLS1 associated protein X-1																																				SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246356_154246357insG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs					HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs	p.LG141fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	636_637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		141		F -> L (in SCN3; mild form).	Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	ENST00000328703.7	37	c.423_424insG	CCDS1064.1																																																																																				0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		18	367						18	367	---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155006136	155006137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155006136_155006137insC	ENST00000368424.3	-	1	99_100	c.41_42insG	c.(40-42)ggafs	p.G14fs	DCST1_ENST00000295542.1_5'Flank|DCST2_ENST00000295536.5_Frame_Shift_Ins_p.G14fs|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	14						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGCTCCTCTCCCCCCAAGGG	0.589																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(40-42)ggafs		DC-STAMP domain containing 2																																				SO:0001589	frameshift_variant	127579					integral to membrane		g.chr1:155006136_155006137insC	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.42dupG	1.37:g.155006142_155006142dupC	ENSP00000357409:p.Gly14fs					DCST2_ENST00000295536.5_Frame_Shift_Ins_p.G14fs	p.G14fs	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	99_100	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		14					Q2M2R2|Q8N810|Q96M03	Frame_Shift_Ins	INS	ENST00000368424.3	37	c.41_42insG	CCDS1082.2																																																																																				0.589	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		8	306						8	306	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155297993	155297994	+	Frame_Shift_Ins	INS	-	-	G	rs149617084		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155297993_155297994insG	ENST00000368352.5	+	9	2618_2619	c.2467_2468insG	c.(2467-2469)cggfs	p.R823fs	RUSC1_ENST00000368349.4_Frame_Shift_Ins_p.R354fs|RUSC1_ENST00000292254.4_Frame_Shift_Ins_p.R354fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Frame_Shift_Ins_p.R717fs|RUSC1_ENST00000368347.4_Frame_Shift_Ins_p.R413fs	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	823					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTGTGAAGCGGGGGGCACCT	0.564																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2467-2469)gggfs		RUN and SH3 domain containing 1																																				SO:0001589	frameshift_variant	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155297993_155297994insG	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2473dupG	1.37:g.155297999_155297999dupG	ENSP00000357336:p.Arg823fs					RUSC1_ENST00000368349.4_Frame_Shift_Ins_p.G354fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Frame_Shift_Ins_p.G354fs|RUSC1_ENST00000368347.4_Frame_Shift_Ins_p.G413fs|RUSC1_ENST00000368354.3_Frame_Shift_Ins_p.G717fs	p.G823fs	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	2618_2619	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		823					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Frame_Shift_Ins	INS	ENST00000368352.5	37	c.2467_2468insG	CCDS41410.1																																																																																				0.564	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			11	836						11	836	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(124-126)aacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491185_155491186insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.126dupA	1.37:g.155491192_155491192dupT	ENSP00000357330:p.Asn42fs					ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs	p.N42fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	764_765	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		42					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.125_126insA																																																																																					0.431	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	1540						8	1540	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155734980	155734981	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:155734980_155734981insG	ENST00000368331.1	-	21	4331_4332	c.4283_4284insC	c.(4282-4284)ccafs	p.P1428fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Ins_p.P1428fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.P1428fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.P1428fs	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1428					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGCTTCCCTGGGGGGCTACT	0.515																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(4282-4284)cggfs		gon-4-like (C. elegans)																																				SO:0001589	frameshift_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155734980_155734981insG	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4284dupC	1.37:g.155734986_155734986dupG	ENSP00000357315:p.Pro1428fs					GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.R1428fs|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.R1428fs|GON4L_ENST00000361040.5_Frame_Shift_Ins_p.R1428fs	p.R1428fs			Q3T8J9	GON4L_HUMAN			21	4405_4406	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1428					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Ins	INS	ENST00000368331.1	37	c.4283_4284insC																																																																																					0.515	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		7	693						7	693	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs|MRPL24_ENST00000478899.1_5'Flank			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(52-54)ttafs		mitochondrial ribosomal protein L24																																				SO:0001589	frameshift_variant	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708444_156708445insG	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.53dupC	1.37:g.156708451_156708451dupG	ENSP00000354525:p.His18fs					MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			Q96A35	RM24_HUMAN			2	188_189	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		18					D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Frame_Shift_Ins	INS	ENST00000361531.2	37	c.52_53insC	CCDS1155.1																																																																																				0.574	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		22	572						22	572	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156918292	156918293	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:156918292_156918293insG	ENST00000361409.2	-	22	2548		c.e22-2		ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.e23-2		Rho guanine nucleotide exchange factor (GEF) 11																																				SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156918292_156918293insG	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1806-2->C	1.37:g.156918298_156918298dupG						ARHGEF11_ENST00000315174.8_Splice_Site|ARHGEF11_ENST00000361409.2_Splice_Site		NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			23	2965	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Splice_Site	INS	ENST00000361409.2	37		CCDS1162.1																																																																																				0.569	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Intron	7	266						7	266	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)accfs	p.T282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.46																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(844-846)cccfs		olfactory receptor, family 10, subfamily Z, member 1																																				SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158577072_158577073insC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.850dupC	1.37:g.158577078_158577078dupC	ENSP00000354707:p.Thr282fs						p.P282fs	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	844_845	+	all_hematologic(112;0.0378)		282					Q5VYL0|Q6IFR7	Frame_Shift_Ins	INS	ENST00000361284.1	37	c.844_845insC	CCDS30901.1																																																																																				0.460	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		11	1262						11	1262	---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159922195	159922196	+	Frame_Shift_Ins	INS	-	-	C	rs371821905		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:159922195_159922196insC	ENST00000368093.3	-	3	636_637	c.520_521insG	c.(520-522)gatfs	p.D174fs	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	174	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAAGTGCTATCCCCCCGGGAG	0.579																																						ENST00000368093.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(520-522)tagfs		SLAM family member 9																																				SO:0001589	frameshift_variant	89886					integral to membrane		g.chr1:159922195_159922196insC	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.521dupG	1.37:g.159922201_159922201dupC	ENSP00000357072:p.Asp174fs					SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	p.*174fs	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	636_637	-	all_hematologic(112;0.093)		174			Ig-like C2-type.		Q5JRQ9|Q5JRR0|Q6UWG1	Frame_Shift_Ins	INS	ENST00000368093.3	37	c.520_521insG	CCDS1191.1																																																																																				0.579	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		11	807						11	807	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160063924	160063925	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:160063924_160063925insG	ENST00000368086.1	-	3	695_696	c.479_480insC	c.(478-480)ccafs	p.P160fs	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.P160fs			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	160					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGGCCCTGGGGGGGCAGC	0.653																																						ENST00000368086.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(478-480)cggfs		immunoglobulin superfamily, member 8																																				SO:0001589	frameshift_variant	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063924_160063925insG	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.480dupC	1.37:g.160063931_160063931dupG	ENSP00000357065:p.Pro160fs					IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Frame_Shift_Ins_p.R160fs	p.R160fs			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		3	695_696	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		160					Q8NG09|Q96DP4|Q9BTG9	Frame_Shift_Ins	INS	ENST00000368086.1	37	c.479_480insC	CCDS1195.1																																																																																				0.653	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		12	125						12	125	---	---	---	---
B4GALT3	8703	broad.mit.edu	37	1	161145761	161145762	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:161145761_161145762insC	ENST00000319769.5	-	3	311_312	c.89_90insG	c.(88-90)ggcfs	p.G30fs	PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.G30fs|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	30					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GACTTCGGAAGCCCCCCAGTGA	0.599																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(88-90)gttfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161145761_161145762insC	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.90dupG	1.37:g.161145767_161145767dupC	ENSP00000320965:p.Gly30fs					PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.V30fs|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron	p.V30fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	311_312	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		30					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Frame_Shift_Ins	INS	ENST00000319769.5	37	c.89_90insG	CCDS1222.1																																																																																				0.599	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		7	711						7	711	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161167945	161167946	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:161167945_161167946insC	ENST00000367996.5	-	1	900_901	c.472_473insG	c.(472-474)gctfs	p.A158fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.A158fs|ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	158					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.A158fs*2(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GTGGAGTTCAGCCCCCCGATAT	0.624																																						ENST00000367996.4																			1	Insertion - Frameshift(1)	p.A158fs*2(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(472-474)tgafs		ADAM metallopeptidase with thrombospondin type 1 motif, 4																																				SO:0001589	frameshift_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161167945_161167946insC	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.473dupG	1.37:g.161167951_161167951dupC	ENSP00000356975:p.Ala158fs					ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.*158fs	p.*158fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		1	900_901	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		158					Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Frame_Shift_Ins	INS	ENST00000367996.5	37	c.472_473insG	CCDS1223.1																																																																																				0.624	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		7	280						7	280	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-165)ttccccfs	p.FP54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(160-162)tccfs		RCSD domain containing 1																																				SO:0001589	frameshift_variant	92241							g.chr1:167654710_167654711insC	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.168dupC	1.37:g.167654717_167654717dupC	ENSP00000356828:p.Phe54fs					RCSD1_ENST00000537350.1_Intron	p.S54fs	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN			3	492_493	+	all_hematologic(923;0.215)		54					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Ins	INS	ENST00000367854.3	37	c.161_162insC	CCDS1263.1																																																																																				0.554	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		11	280						11	280	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs|ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs					ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs	p.F131fs			Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		13	661						13	661	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2983-2985)cccfs	p.P995fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2980-2985)acccccfs		tenascin N																																				SO:0001589	frameshift_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096158_175096159insC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2988dupC	1.37:g.175096164_175096164dupC	ENSP00000239462:p.Pro995fs						p.TP994fs	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3095_3096	+		Breast(1374;0.000962)	994			Fibronectin type-III 9.		B9EGP3|Q5R360	Frame_Shift_Ins	INS	ENST00000239462.4	37	c.2982_2983insC	CCDS30943.1																																																																																				0.505	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	684						9	684	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5052)atccccfs	p.IP1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.47																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(5047-5049)accfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176762723_176762724insC	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5055dupC	1.37:g.176762730_176762730dupC	ENSP00000356634:p.Ile1683fs						p.T1683fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			20	6212_6213	+			1683			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.5048_5049insC	CCDS41438.1																																																																																				0.470	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			41	686						41	686	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:181549749_181549750insC	ENST00000367573.2	+	6	788_789	c.788_789insC	c.(787-792)gaccccfs	p.DP263fs	CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.DP214fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(787-789)gccfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749_181549750insC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.794dupC	1.37:g.181549755_181549755dupC	ENSP00000356545:p.Asp263fs					CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR	p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			6	953_954	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	c.788_789insC	CCDS55664.1																																																																																				0.505	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	2193						8	2193	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183854005	183854006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:183854005_183854006insG	ENST00000360851.3	+	7	1062_1063	c.884_885insG	c.(883-888)ctggggfs	p.LG295fs	RGL1_ENST00000304685.4_Frame_Shift_Ins_p.LG330fs|RGL1_ENST00000539189.1_Frame_Shift_Ins_p.LG295fs|RGL1_ENST00000536277.1_Frame_Shift_Ins_p.LG293fs			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	295	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGCACCATCCTGGGGGGCAAAG	0.416																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(988-990)cggfs		ral guanine nucleotide dissociation stimulator-like 1																																				SO:0001589	frameshift_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183854005_183854006insG	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.890dupG	1.37:g.183854011_183854011dupG	ENSP00000354097:p.Leu295fs					RGL1_ENST00000360851.3_Frame_Shift_Ins_p.R295fs|RGL1_ENST00000367531.1_Frame_Shift_Ins_p.R330fs|RGL1_ENST00000539189.1_Frame_Shift_Ins_p.R295fs|RGL1_ENST00000536277.1_Frame_Shift_Ins_p.R293fs	p.R330fs	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			8	1450_1451	+			295			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Frame_Shift_Ins	INS	ENST00000360851.3	37	c.989_990insG																																																																																					0.416	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		8	249						8	249	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)gggaggfs	p.R584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.R584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1747-1752)ggggtafs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046125_201046126insC	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1750dupG	1.37:g.201046131_201046131dupC	ENSP00000355192:p.Arg584fs					CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1975_1976	-			584					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Ins	INS	ENST00000362061.3	37	c.1749_1750insG	CCDS1407.1																																																																																				0.574	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		18	872						18	872	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs					IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	p.DP1501fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		10	545						10	545	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)gccfs		fibromodulin																																				SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316599_203316600insC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.800dupG	1.37:g.203316605_203316605dupC	ENSP00000347041:p.Ala267fs					FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262_1263	-			267					Q15331|Q8IV47	Frame_Shift_Ins	INS	ENST00000354955.4	37	c.799_800insG	CCDS30976.1																																																																																				0.579	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		14	628						14	628	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.48																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(253-255)accfs		ATPase, Ca++ transporting, plasma membrane 4																																				SO:0001589	frameshift_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203667345_203667346insC	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.261dupC	1.37:g.203667352_203667352dupC	ENSP00000350310:p.Ile85fs					ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	1377_1378	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		85					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Frame_Shift_Ins	INS	ENST00000357681.5	37	c.254_255insC	CCDS1440.1																																																																																				0.480	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		15	418						15	418	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(220-222)ggtfs		golgi transport 1A																																				SO:0001589	frameshift_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170835_204170836insC	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.222dupG	1.37:g.204170841_204170841dupC	ENSP00000308535:p.Gly74fs						p.G74fs	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	406_407	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		74						Frame_Shift_Ins	INS	ENST00000308302.3	37	c.221_222insG	CCDS1443.1																																																																																				0.545	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		15	931						15	931	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		36	465						36	465	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000403080.1_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559																																						ENST00000367172.4																			2	Deletion - Frameshift(2)	p.P159fs*12(1)|p.P165fs*12(1)	large_intestine(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(487-489)accfs		neurofascin																																				SO:0001589	frameshift_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204924032_204924033insC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.494dupC	1.37:g.204924038_204924038dupC	ENSP00000385637:p.Asn163fs					NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs	p.T163fs			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		7	816_817	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		163			Ig-like C2-type 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	ENST00000401399.1	37	c.488_489insC	CCDS53460.1																																																																																				0.559	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		19	873						19	873	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205497018	205497019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:205497018_205497019insG	ENST00000360066.2	+	9	1127_1128	c.826_827insG	c.(826-828)aggfs	p.R276fs	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.R306fs|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.R276fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CATCAACGAGAGGGGGGAGCTG	0.639																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(826-828)gggfs		cyclin-dependent kinase 18																																				SO:0001589	frameshift_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205497018_205497019insG	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.832dupG	1.37:g.205497024_205497024dupG	ENSP00000353176:p.Arg276fs					CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs	p.G276fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			9	1127_1128	+			274			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Frame_Shift_Ins	INS	ENST00000360066.2	37	c.826_827insG	CCDS44300.1																																																																																				0.639	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		10	433						10	433	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						ENST00000367057.3																			1	Deletion - Frameshift(1)	p.T209fs*10(1)	breast(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(616-618)gccfs		complement component (3d/Epstein Barr virus) receptor 2																																				SO:0001589	frameshift_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642043_207642044insC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs					CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			3	806_807	+			206			Sushi 3.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	ENST00000367058.3	37	c.617_618insC	CCDS1478.1																																																																																				0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		38	967						38	967	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G	rs200374067	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)	p.H465fs*57(1)		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)		GACCCCACCATGGGGGGGACCG	0.594																																						ENST00000367033.3																			1	Deletion - Frameshift(1)	p.H465fs*57(1)	large_intestine(1)	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.(1393-1395)tggfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315786_208315787insG	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.1394dupC	1.37:g.208315793_208315793dupG	ENSP00000356000:p.His465fs						p.W465fs	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2150_2151	-			465			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1393_1394insC	CCDS31013.1																																																																																				0.594	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		20	930						20	930	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e3-2		interferon regulatory factor 6																																				SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974763_209974764insG	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.3-2->C	1.37:g.209974770_209974770dupG		HNSCC(57;0.16)				IRF6_ENST00000542854.1_Intron		NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	170	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	INS	ENST00000367021.3	37		CCDS1492.1																																																																																				0.594	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	11	254						11	254	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)tccfs	p.S451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1351-1353)cccfs		digestive organ expansion factor homolog (zebrafish)																																				SO:0001589	frameshift_variant	27042				multicellular organismal development	nucleus		g.chr1:210014266_210014267insC	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1357dupC	1.37:g.210014272_210014272dupC	ENSP00000419005:p.Ser451fs						p.P451fs	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			8	1408_1409	+			451					O75992|Q4VY00|Q63HL9	Frame_Shift_Ins	INS	ENST00000491415.2	37	c.1351_1352insC	CCDS1493.1																																																																																				0.465	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		7	480						7	480	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-411)agccccfs	p.SP136fs	PROX1_ENST00000261454.4_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.SP136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.53																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(406-408)accfs		prospero homeobox 1																																				SO:0001589	frameshift_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170285_214170286insC	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.413dupC	1.37:g.214170291_214170291dupC	ENSP00000355925:p.Ser136fs					PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs	p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1015_1016	+			136					A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Ins	INS	ENST00000366958.4	37	c.407_408insC	CCDS31021.1																																																																																				0.530	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		11	1212						11	1212	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)ccafs	p.P274fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.P274fs|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.P274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(820-822)cacfs		tripartite motif containing 17																																				SO:0001589	frameshift_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596934_228596935insG	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.822dupC	1.37:g.228596941_228596941dupG	ENSP00000355658:p.Pro274fs					TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA	p.H274fs			Q9Y577	TRI17_HUMAN			5	1777_1778	-		Prostate(94;0.0724)	274					B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.821_822insC	CCDS1571.1																																																																																				0.579	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		7	243						7	243	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs					ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		7	293						7	293	---	---	---	---
ODC1	4953	broad.mit.edu	37	2	10583614	10583615	+	Splice_Site	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:10583614_10583615insC	ENST00000234111.4	-	7	1177		c.e7+1		ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Splice_Site	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1						cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	ACGTATACTCACCCCCATGTCA	0.46																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.e7+1		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)																																			SO:0001630	splice_region_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10583614_10583615insC		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.666+1->G	2.37:g.10583619_10583619dupC						ODC1_ENST00000405333.1_Splice_Site		NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	7	1177	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)							Q53TU3|Q6LDS9	Splice_Site	INS	ENST00000234111.4	37		CCDS1672.1																																																																																				0.460	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		Intron	7	812						7	812	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11738052	11738053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:11738052_11738053insC	ENST00000381486.2	+	14	2400_2401	c.2100_2101insC	c.(2101-2103)cccfs	p.P701fs	GREB1_ENST00000234142.5_Frame_Shift_Ins_p.P701fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	701						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATTTGCATTCCCCCCTCAGA	0.52																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2098-2103)atccccfs		growth regulation by estrogen in breast cancer 1																																				SO:0001589	frameshift_variant	9687					integral to membrane		g.chr2:11738052_11738053insC		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2106dupC	2.37:g.11738058_11738058dupC	ENSP00000370896:p.Pro701fs					GREB1_ENST00000234142.5_Frame_Shift_Ins_p.IP700fs	p.IP700fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	14	2400_2401	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		700					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Frame_Shift_Ins	INS	ENST00000381486.2	37	c.2100_2101insC	CCDS42655.1																																																																																				0.520	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	913						7	913	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-66)gtggggfs	p.VG21fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.VG21fs	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(61-63)gggfs		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3																																				SO:0001589	frameshift_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112337_18112338insG	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.68dupG	2.37:g.18112343_18112343dupG	ENSP00000385968:p.Val21fs					KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs	p.G21fs			Q9BQ31	KCNS3_HUMAN			3	513_514	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		21					D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Ins	INS	ENST00000403915.1	37	c.62_63insG	CCDS1692.1																																																																																				0.535	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		8	662						8	662	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.176_177insC	c.(175-177)ccg>ccCg	p.P59fs	DNMT3A_ENST00000406659.3_Splice_Site_p.P59fs|DNMT3A_ENST00000321117.5_Splice_Site_p.P59fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e3+1		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25523008_25523009insG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.177+1->C	2.37:g.25523014_25523014dupG						DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			3	513_514	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	INS	ENST00000264709.3	37	c.177_splice	CCDS33157.1																																																																																				0.649	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Frame_Shift_Ins	11	400						11	400	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)ccafs	p.P778fs	ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.P518fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.P518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.P750fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	778					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2332-2334)cgtfs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966872_25966873insG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2334dupC	2.37:g.25966879_25966879dupG	ENSP00000391447:p.Pro778fs					ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs	p.R778fs			Q76L83	ASXL2_HUMAN			13	2626_2627	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		778					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Ins	INS	ENST00000435504.4	37	c.2333_2334insC																																																																																					0.554	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		8	332						8	332	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27278900	27278901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27278900_27278901insC	ENST00000360131.4	+	7	1418_1419	c.1259_1260insC	c.(1258-1263)atccccfs	p.IP420fs	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.IP420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	420					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1258-1260)accfs		ATP/GTP binding protein-like 5																																				SO:0001589	frameshift_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278900_27278901insC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1266dupC	2.37:g.27278907_27278907dupC	ENSP00000353249:p.Ile420fs					AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.T420fs	p.T420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			7	1418_1419	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		420					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Frame_Shift_Ins	INS	ENST00000360131.4	37	c.1259_1260insC	CCDS1732.3																																																																																				0.515	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		13	381						13	381	---	---	---	---
GCKR	2646	broad.mit.edu	37	2	27721130	27721131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27721130_27721131insG	ENST00000264717.2	+	4	357_358	c.294_295insG	c.(295-297)gggfs	p.G99fs	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	99	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCAGATGGGGGGCTGGT	0.53																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(292-297)gaggggfs		glucokinase (hexokinase 4) regulator																																				SO:0001589	frameshift_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27721130_27721131insG	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.300dupG	2.37:g.27721136_27721136dupG	ENSP00000264717:p.Gly99fs					GCKR_ENST00000424318.2_5'UTR	p.EG98fs	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			4	357_358	+	Acute lymphoblastic leukemia(172;0.155)		98			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Frame_Shift_Ins	INS	ENST00000264717.2	37	c.294_295insG	CCDS1757.1																																																																																				0.530	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		7	517						7	517	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804287	27804288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:27804287_27804288insC	ENST00000408964.2	+	1	4899_4900	c.4848_4849insC	c.(4849-4851)cccfs	p.P1617fs	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1617	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACTGCAGTCCCCCCGAGAG	0.569																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4846-4851)agccccfs		chromosome 2 open reading frame 16																																				SO:0001589	frameshift_variant	84226							g.chr2:27804287_27804288insC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4854dupC	2.37:g.27804293_27804293dupC	ENSP00000386190:p.Pro1617fs						p.SP1616fs	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	4899_4900	+	Acute lymphoblastic leukemia(172;0.155)		1616			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Frame_Shift_Ins	INS	ENST00000408964.2	37	c.4848_4849insC	CCDS42666.1																																																																																				0.569	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		9	494						9	494	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406785.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.P786fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2272-2274)cacfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)																																			SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366704_40366705insG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2382dupC	2.37:g.40366710_40366710dupG	ENSP00000384763:p.Pro794fs					SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA	p.H758fs			P32418	NAC1_HUMAN			7	2462_2463	-			794					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Ins	INS	ENST00000403092.1	37	c.2273_2274insC	CCDS1806.1																																																																																				0.515	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		10	878						10	878	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61021134	61021135	+	Frame_Shift_Ins	INS	-	-	C	rs140373990		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:61021134_61021135insC	ENST00000238714.3	+	19	2046_2047	c.1797_1798insC	c.(1798-1800)cccfs	p.P600fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	600					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAACTGTATCACCCCCCACTGT	0.401																																					GBM(183;1497 2932 21839 46797)	ENST00000238714.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1795-1800)tcccccfs		poly(A) polymerase gamma																																				SO:0001589	frameshift_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61021134_61021135insC	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1803dupC	2.37:g.61021140_61021140dupC	ENSP00000238714:p.Pro600fs						p.SP599fs	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		19	2046_2047	+	all_hematologic(2;0.0797)		599					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Ins	INS	ENST00000238714.3	37	c.1797_1798insC	CCDS1863.1																																																																																				0.401	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		8	226						8	226	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)tccfs	p.S442fs	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1324-1326)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409763_69409764insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1330dupC	2.37:g.69409769_69409769dupC	ENSP00000301945:p.Ser442fs						p.P442fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1646_1647	+			442					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1324_1325insC	CCDS1892.1																																																																																				0.421	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		9	476						9	476	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73303155	73303156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:73303155_73303156insG	ENST00000258098.6	-	4	1963_1964	c.1723_1724insC	c.(1723-1725)cagfs	p.Q575fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	575					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.Q575fs*11(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGGCCAGCCTGGGGGGCCTGG	0.599																																						ENST00000258098.6																			1	Deletion - Frameshift(1)	p.Q575fs*11(1)	lung(1)	biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1723-1725)ggcfs		RAB11 family interacting protein 5 (class I)																																				SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303155_73303156insG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1724dupC	2.37:g.73303161_73303161dupG	ENSP00000258098:p.Gln575fs					RAB11FIP5_ENST00000493523.2_5'UTR	p.G575fs	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			4	1963_1964	-			575					O94939|Q9P0M1	Frame_Shift_Ins	INS	ENST00000258098.6	37	c.1723_1724insC	CCDS1923.1																																																																																				0.599	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		7	1140						7	1140	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868515	73868516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:73868515_73868516insT	ENST00000272425.3	-	2	389_390	c.240_241insA	c.(238-243)aaacccfs	p.P81fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCGTCCAGGGTTTTTTGGCAA	0.564																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(238-243)aacctgfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868515_73868516insT	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.241dupA	2.37:g.73868521_73868521dupT	ENSP00000272425:p.Pro81fs						p.NL80fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	389_390	-			80			N-acetyltransferase.			Frame_Shift_Ins	INS	ENST00000272425.3	37	c.240_241insA	CCDS1926.1																																																																																				0.564	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		7	1100						7	1100	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74128517	74128518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74128517_74128518insC	ENST00000409624.1	+	3	722_723	c.79_80insC	c.(79-81)gccfs	p.A27fs	ACTG2_ENST00000409731.3_Frame_Shift_Ins_p.A27fs|ACTG2_ENST00000345517.3_Frame_Shift_Ins_p.A27fs|ACTG2_ENST00000409918.1_Frame_Shift_Ins_p.A27fs			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	27					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						AGGAGATGATGCCCCCCGGGCT	0.619																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(79-81)cccfs		actin, gamma 2, smooth muscle, enteric																																				SO:0001589	frameshift_variant	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74128517_74128518insC		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.85dupC	2.37:g.74128523_74128523dupC	ENSP00000386857:p.Ala27fs					ACTG2_ENST00000409918.1_Frame_Shift_Ins_p.P27fs|ACTG2_ENST00000409731.3_Frame_Shift_Ins_p.P27fs|ACTG2_ENST00000345517.3_Frame_Shift_Ins_p.P27fs	p.P27fs			P63267	ACTH_HUMAN			3	722_723	+			27					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Frame_Shift_Ins	INS	ENST00000409624.1	37	c.79_80insC	CCDS1930.1																																																																																				0.619	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		7	395						7	395	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74480126_74480127insG	ENST00000377634.4	-	15	1641_1642	c.1242_1243insC	c.(1240-1245)cccaagfs	p.K415fs	SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.K351fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.K415fs|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.K351fs|SLC4A5_ENST00000394019.2_Frame_Shift_Ins_p.K415fs					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1245)ccagaafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 5																																				SO:0001589	frameshift_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480126_74480127insG	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1243dupC	2.37:g.74480132_74480132dupG	ENSP00000366861:p.Lys415fs					SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs	p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			15	1639_1640	-			415						Frame_Shift_Ins	INS	ENST00000377634.4	37	c.1242_1243insC	CCDS1936.1																																																																																				0.475	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			9	466						9	466	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C	rs547055147	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74687542_74687543insC	ENST00000233615.2	+	4	818_819	c.544_545insC	c.(544-546)gccfs	p.A182fs	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.A179fs|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.A216fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													CCCCCCc|CCCCCCC|CCCCCCCC|insertion	4	0.000798722	0.0015	0.0	5008	,	,		17122	0.001		0.0	False		,,,				2504	0.001					ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(646-648)cccfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74687542_74687543insC	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.551dupC	2.37:g.74687549_74687549dupC	ENSP00000233615:p.Ala182fs					WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs	p.P216fs			Q96G27	WBP1_HUMAN			5	849_850	+			182					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.646_647insC	CCDS1943.1																																																																																				0.604	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		9	177						9	177	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74690034	74690035	+	Frame_Shift_Ins	INS	-	-	G	rs184209905	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74690034_74690035insG	ENST00000233616.4	-	4	1043_1044	c.881_882insC	c.(880-882)cctfs	p.P294fs	MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000452063.2_Frame_Shift_Ins_p.P188fs|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGTAGCGTTCAGGGGGGGCCCC	0.584																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(880-882)cgafs		mannosyl-oligosaccharide glucosidase																																				SO:0001589	frameshift_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690034_74690035insG	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.882dupC	2.37:g.74690041_74690041dupG	ENSP00000233616:p.Pro294fs					MOGS_ENST00000452063.2_Frame_Shift_Ins_p.R188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR	p.R294fs	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1043_1044	-			294					A8K938|F5H6D0|Q17RN9|Q8TCT5	Frame_Shift_Ins	INS	ENST00000233616.4	37	c.881_882insC	CCDS42700.1																																																																																				0.584	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		25	586						25	586	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank|PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.53																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e6-2		polycomb group ring finger 1																																				SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74732899_74732900insG	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.531-2->C	2.37:g.74732905_74732905dupG						PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN			6	1442	-								Q7Z506	Splice_Site	INS	ENST00000233630.6	37		CCDS1946.2																																																																																				0.530	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	7	863						7	863	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)accfs	p.T608fs	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.T453fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1822-1824)cccfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F																																				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906845_74906846insC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1828dupC	2.37:g.74906851_74906851dupC	ENSP00000350547:p.Thr608fs					SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs	p.P608fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1971_1972	+			608			Ig-like C2-type.		Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1822_1823insC	CCDS1955.1																																																																																				0.629	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		10	601						10	601	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(961-963)gggfs	p.G321fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.G293fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(958-963)ttggggfs		hexokinase 2																																				SO:0001589	frameshift_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104377_75104378insG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.966dupG	2.37:g.75104383_75104383dupG	ENSP00000290573:p.Gly321fs					HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			8	1560_1561	+			320			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Frame_Shift_Ins	INS	ENST00000290573.2	37	c.960_961insG	CCDS1956.1																																																																																				0.545	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		8	716						8	716	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85536195	85536196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:85536195_85536196insC	ENST00000282111.3	+	12	1652_1653	c.1377_1378insC	c.(1378-1380)cccfs	p.P460fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	460					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TTCAGTACCTGCCCCCCGAGAA	0.614																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1375-1380)ctccccfs		transcription factor 7-like 1 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536195_85536196insC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1383dupC	2.37:g.85536201_85536201dupC	ENSP00000282111:p.Pro460fs						p.LP459fs	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1652_1653	+			459					Q53R97|Q6PD70|Q9NP00	Frame_Shift_Ins	INS	ENST00000282111.3	37	c.1377_1378insC	CCDS1971.1																																																																																				0.614	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		7	415						7	415	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.LG334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1000-1002)cggfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863227_85863228insG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007dupG	2.37:g.85863233_85863233dupG	ENSP00000312981:p.Leu334fs					USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs	p.R334fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			7	1011_1012	+			334					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1001_1002insG	CCDS33234.1																																																																																				0.416	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		12	733						12	733	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85866422	85866423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:85866422_85866423insC	ENST00000323701.6	+	9	1202_1203	c.1192_1193insC	c.(1192-1194)gccfs	p.A398fs	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Frame_Shift_Ins_p.A398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.A295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.A398fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.A398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	398	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCTTCCTACTGCCCCCCTCTAC	0.505																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1192-1194)cccfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85866422_85866423insC	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1198dupC	2.37:g.85866428_85866428dupC	ENSP00000312981:p.Ala398fs					USP39_ENST00000409766.3_Frame_Shift_Ins_p.P398fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.P398fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.P295fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.P398fs	p.P398fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN			9	1202_1203	+			398					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1192_1193insC	CCDS33234.1																																																																																				0.505	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		7	602						7	602	---	---	---	---
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	lincRNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1				long intergenic non-protein coding RNA 152																		AAAATAAATTTCCCCCCAGAAC	0.455																																						ENST00000409054.1																			0																																																			112597							g.chr2:87865524_87865525insC	BC009508		2p11.2	2014-02-14	2011-08-11	2011-08-11	ENSG00000222041	ENSG00000222041		"""Long non-coding RNAs"""	28717	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 59"", ""non-protein coding RNA 152"""	C2orf59, NCRNA00152		24523021, 23801869, 22689435, 24036268	Standard	NR_024204		Approved	MGC4677	uc002ssk.4		OTTHUMG00000130273		2.37:g.87865530_87865530dupC								NR_015395.1						0	278	+									RNA	INS	ENST00000409054.1	37																																																																																						0.455	LINC00152-005	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000330387.3	XR_042051		7	485						7	485	---	---	---	---
ANKRD23	200539	broad.mit.edu	37	2	97507820	97507821	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:97507820_97507821insG	ENST00000318357.4	-	3	317_318	c.276_277insC	c.(274-279)cccaggfs	p.R93fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.R93fs|ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.R93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	93					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.53																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(274-279)ccggaafs		ankyrin repeat domain 23				3,4263		0,3,2130						4.5	1.0			89	6,8248		0,6,4121	no	frameshift	ANKRD23	NM_144994.7		0,9,6251	A1A1,A1R,RR		0.0727,0.0703,0.0719				9,12511				SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97507820_97507821insG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.277dupC	2.37:g.97507827_97507827dupG	ENSP00000321679:p.Arg93fs					ANKRD23_ENST00000418232.1_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000331001.2_Frame_Shift_Ins_p.E93fs|ANKRD23_ENST00000476975.1_5'UTR	p.E93fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			3	317_318	-			93					Q711K7|Q8NAJ7	Frame_Shift_Ins	INS	ENST00000318357.4	37	c.276_277insC	CCDS2027.1																																																																																				0.530	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		10	457						10	457	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	660						7	660	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98914463	98914464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:98914463_98914464insG	ENST00000477737.1	+	24	3455_3456	c.3251_3252insG	c.(3250-3255)gtggggfs	p.VG1084fs	VWA3B_ENST00000490947.2_3'UTR|AC092675.1_ENST00000401293.1_RNA	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1084										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCACGCCTGTGGGGGGCGCCA	0.584																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3250-3252)gggfs		von Willebrand factor A domain containing 3B																																				SO:0001589	frameshift_variant	200403							g.chr2:98914463_98914464insG	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3257dupG	2.37:g.98914469_98914469dupG	ENSP00000417955:p.Val1084fs					VWA3B_ENST00000490947.2_3'UTR	p.G1084fs	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			24	3455_3456	+			1084					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	ENST00000477737.1	37	c.3251_3252insG	CCDS42718.1																																																																																				0.584	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		7	400						7	400	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs					IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		10	681						10	681	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs					EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs	p.H144fs			Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			11	605						11	605	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs					FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		17	296						17	296	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs					XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	p.TG685fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	256						10	256	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1249-1254)aaccccfs		myosin IIIB																																				SO:0001589	frameshift_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240258_171240259insC		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1231dupC	2.37:g.171240265_171240265dupC	ENSP00000386213:p.Pro409fs					MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs	p.NP417fs			Q8WXR4	MYO3B_HUMAN			12	1251_1252	+			408			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Frame_Shift_Ins	INS	ENST00000408978.4	37	c.1251_1252insC	CCDS42773.1																																																																																				0.465	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			9	414						9	414	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA	p.G559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		12	471						12	471	---	---	---	---
MFSD6	54842	broad.mit.edu	37	2	191301838	191301839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191301838_191301839insC	ENST00000392328.1	+	3	1407_1408	c.1083_1084insC	c.(1084-1086)cccfs	p.P362fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.P362fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	362					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGGGTGTAAGCCCCCCGAGTA	0.579																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1081-1086)aaccccfs		major facilitator superfamily domain containing 6																																				SO:0001589	frameshift_variant	54842				transmembrane transport	integral to membrane		g.chr2:191301838_191301839insC		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1089dupC	2.37:g.191301844_191301844dupC	ENSP00000376141:p.Pro362fs					MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.NP361fs	p.NP361fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	1407_1408	+			361					D3KSZ4|Q86TH2|Q9NXM3	Frame_Shift_Ins	INS	ENST00000392328.1	37	c.1083_1084insC	CCDS2306.1																																																																																				0.579	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			8	237						8	237	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191862616	191862617	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191862616_191862617insC	ENST00000361099.3	-	9	1137_1138	c.750_751insG	c.(748-753)gggccgfs	p.P251fs	STAT1_ENST00000392323.2_Frame_Shift_Ins_p.P253fs|STAT1_ENST00000392322.3_Frame_Shift_Ins_p.P251fs|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Frame_Shift_Ins_p.P251fs	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	251					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GCATTGGGCGGCCCCCCAATAC	0.475																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(748-753)ggcgccfs		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)																																			SO:0001589	frameshift_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862616_191862617insC		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.751dupG	2.37:g.191862622_191862622dupC	ENSP00000354394:p.Pro251fs					STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Frame_Shift_Ins_p.A251fs|STAT1_ENST00000392323.2_Frame_Shift_Ins_p.A253fs|STAT1_ENST00000409465.1_Frame_Shift_Ins_p.A251fs	p.A251fs	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1137_1138	-			251					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Frame_Shift_Ins	INS	ENST00000361099.3	37	c.750_751insG	CCDS2309.1																																																																																				0.475	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		7	184						7	184	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197953472	197953473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:197953472_197953473insT	ENST00000328737.2	-	12	1210_1211	c.1134_1135insA	c.(1132-1137)aaatttfs	p.F379fs	ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.F396fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.F404fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.F379fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.F379fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.F332fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	404										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCTTCCAAATTTATCTGGGG	0.381																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1132-1137)aattggfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197953472_197953473insT	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1135dupA	2.37:g.197953475_197953475dupT	ENSP00000331516:p.Phe379fs					ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.NW403fs|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.NW378fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.NW331fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.NW378fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.NW395fs	p.NW378fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		12	1210_1211	-			403					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Ins	INS	ENST00000328737.2	37	c.1134_1135insA																																																																																					0.381	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		66	150						66	150	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:203621968_203621969insC	ENST00000392238.2	+	6	1137_1138	c.1137_1138insC	c.(1138-1140)cccfs	p.P380fs	FAM117B_ENST00000303116.6_Frame_Shift_Ins_p.P136fs			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	380										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(403-408)ccccccfs		family with sequence similarity 117, member B																																				SO:0001589	frameshift_variant	150864							g.chr2:203621968_203621969insC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1144dupC	2.37:g.203621975_203621975dupC	ENSP00000376071:p.Pro380fs					FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	p.PP135fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN			6	1147_1148	+			379					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Ins	INS	ENST00000392238.2	37	c.405_406insC	CCDS33362.2																																																																																				0.485	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		13	421						13	421	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2337)caccccfs	p.HP778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.HP778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.HP778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			2	Insertion - Frameshift(2)	p.K781fs*3(2)	ovary(2)	NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2332-2334)cccfs		ADAM metallopeptidase domain 23																																				SO:0001589	frameshift_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460860_207460861insC	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2340dupC	2.37:g.207460867_207460867dupC	ENSP00000264377:p.His778fs					ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2661_2662	+			778					A2RU59	Frame_Shift_Ins	INS	ENST00000264377.3	37	c.2333_2334insC	CCDS2369.1																																																																																				0.455	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		8	169						8	169	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs					RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR	p.W385fs			Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		7	358						7	358	---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)ggafs	p.G250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564																																						ENST00000295704.2																			1	Insertion - Frameshift(1)	p.I251fs*3(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(748-750)gatfs		ring finger protein 25																																				SO:0001589	frameshift_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529513_219529514insC		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.750dupG	2.37:g.219529520_219529520dupC	ENSP00000295704:p.Gly250fs						p.D250fs	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1189_1190	-		Renal(207;0.0474)	250					A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Ins	INS	ENST00000295704.2	37	c.749_750insG	CCDS2420.1																																																																																				0.564	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		18	633						18	633	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)ccafs	p.P119fs	PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.P119fs|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.P29fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.55																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(355-357)cgafs		protein tyrosine phosphatase, receptor type, N																																				SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220168477_220168478insG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.357dupC	2.37:g.220168483_220168483dupG	ENSP00000295718:p.Pro119fs					PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|AC114803.3_ENST00000417355.1_RNA	p.R119fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	4	596_597	-		Renal(207;0.0474)	119					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Ins	INS	ENST00000295718.2	37	c.356_357insC	CCDS2440.1																																																																																				0.550	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			9	433						9	433	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220504281	220504282	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:220504281_220504282insG	ENST00000358055.3	+	20	3613_3614	c.3101_3102insG	c.(3100-3105)ctggggfs	p.LG1034fs	SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.LG1061fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.LG1034fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.LG1061fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.LG1034fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1034	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTCT	0.644																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3100-3102)cggfs		solute carrier family 4 (anion exchanger), member 3			,	9,4257		0,9,2124					,	4.4	1.0			56	7,8247		0,7,4120	no	frameshift,frameshift	SLC4A3	NM_201574.2,NM_005070.3	,	0,16,6244	A1A1,A1R,RR		0.0848,0.211,0.1278	,	,		16,12504				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504281_220504282insG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3108dupG	2.37:g.220504288_220504288dupG	ENSP00000350756:p.Leu1034fs					SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.R1034fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.R1061fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.R1034fs	p.R1034fs			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3613_3614	+		Renal(207;0.0183)	1034			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.3101_3102insG	CCDS2445.1																																																																																				0.644	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		42	703						42	703	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		20	509						20	509	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)gatfs		SLIT-ROBO Rho GTPase activating protein 3																																				SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034599_9034600insC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2549dupG	3.37:g.9034606_9034606dupC	ENSP00000373347:p.Val850fs					SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	p.D850fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975_2976	-			850					Q8IX13|Q8IZV8	Frame_Shift_Ins	INS	ENST00000383836.3	37	c.2548_2549insG	CCDS2572.1																																																																																				0.554	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			11	202						11	202	---	---	---	---
IL17RC	84818	broad.mit.edu	37	3	9965673	9965674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:9965673_9965674insC	ENST00000295981.3	+	8	1162_1163	c.944_945insC	c.(943-948)ggccccfs	p.GP315fs	IL17RC_ENST00000413608.1_Frame_Shift_Ins_p.GP244fs|IL17RC_ENST00000416074.2_Frame_Shift_Ins_p.GP100fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.GP229fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.GP229fs|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.GP244fs	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	315					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGGTCCAGGGCCCCCCAAAAC	0.579																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(943-945)gccfs		interleukin 17 receptor C																																				SO:0001589	frameshift_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9965673_9965674insC	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.950dupC	3.37:g.9965679_9965679dupC	ENSP00000295981:p.Gly315fs					IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.A244fs|IL17RC_ENST00000416074.2_Frame_Shift_Ins_p.A100fs|IL17RC_ENST00000413608.1_Frame_Shift_Ins_p.A244fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.A229fs|IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.A229fs|IL17RC_ENST00000498214.1_3'UTR	p.A315fs	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			8	1162_1163	+			315					E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Frame_Shift_Ins	INS	ENST00000295981.3	37	c.944_945insC	CCDS2590.1																																																																																				0.579	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		7	119						7	119	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383806.1_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000287647.3_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA						FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	19	33						19	33	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(1837-1842)agccccfs		natural killer-tumor recognition sequence																																				SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679035_42679036insC		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.SP613fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2027_2028	+			613						Frame_Shift_Ins	INS	ENST00000232978.8	37	c.1839_1840insC	CCDS2702.1																																																																																				0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		18	192						18	192	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(286-288)gggfs		RNA binding motif protein 6																																				SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005144_50005145insG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.293dupG	3.37:g.50005151_50005151dupG	ENSP00000266022:p.Arg96fs					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	p.G96fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	545_546	+			96					O60549|O75524|Q86SS3	Frame_Shift_Ins	INS	ENST00000266022.4	37	c.286_287insG	CCDS2809.1																																																																																				0.495	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		7	175						7	175	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.GP778fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2332-2334)gccfs		ataxin 7																																				SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981831_63981832insC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2340dupC	3.37:g.63981838_63981838dupC	ENSP00000295900:p.Gly778fs					ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs	p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2886_2887	+		Prostate(884;0.0181)	778			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Ins	INS	ENST00000295900.6	37	c.2333_2334insC	CCDS43102.1																																																																																				0.545	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		7	122						7	122	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	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)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	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.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs					VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	304						9	304	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058002	114058003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:114058002_114058003insG	ENST00000474710.1	-	5	2253_2254	c.2075_2076insC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000462705.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCCC	0.634																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Deletion - Frameshift(1)	p.P619fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1855-1857)cgcfs		zinc finger and BTB domain containing 20																																				SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058002_114058003insG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2076dupC	3.37:g.114058009_114058009dupG	ENSP00000419153:p.Pro692fs					ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Ins_p.R692fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.R619fs	p.R619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2677_2678	-			692					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Ins	INS	ENST00000474710.1	37	c.1856_1857insC	CCDS54626.1																																																																																				0.634	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		7	170						7	170	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)cccfs		protein disulfide isomerase family A, member 5				3,4263		0,3,2130						2.4	1.0			51	1,8251		0,1,4125	no	frameshift	PDIA5	NM_006810.3		0,4,6255	A1A1,A1R,RR		0.0121,0.0703,0.032				4,12514				SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869088_122869089insC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1157dupC	3.37:g.122869095_122869095dupC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.P384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1245_1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Ins	INS	ENST00000316218.7	37	c.1150_1151insC	CCDS3020.1																																																																																				0.604	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		10	241						10	241	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs						p.G493fs	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		7	832						7	832	---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183855702	183855703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:183855702_183855703insA	ENST00000273783.3	+	4	645_646	c.523_524insA	c.(523-525)gaafs	p.E175fs	EIF2B5_ENST00000444495.1_Frame_Shift_Ins_p.E175fs|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	175					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACGGAAGCTAGAAAAAAATGTT	0.48																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(523-525)aaafs		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa																																				SO:0001589	frameshift_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855702_183855703insA	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.530dupA	3.37:g.183855709_183855709dupA	ENSP00000273783:p.Glu175fs					EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Frame_Shift_Ins_p.K175fs	p.K175fs	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	645_646	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		175					Q541Z1|Q96D04	Frame_Shift_Ins	INS	ENST00000273783.3	37	c.523_524insA	CCDS3252.1																																																																																				0.480	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			7	581						7	581	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195397992	195397993	+	lincRNA	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:195397992_195397993insT	ENST00000445430.1	+	0	919									long intergenic non-protein coding RNA 969																		TAAATGTGTGGTTTTTTGCAGG	0.391																																						ENST00000445430.1																			0																																																			440993							g.chr3:195397992_195397993insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195397998_195397998dupT														0	919	+									RNA	INS	ENST00000445430.1	37																																																																																						0.391	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	1362						9	1362	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:195597005_195597006insG	ENST00000333602.6	-	11	2139_2140	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.Q571fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.Q540fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.Q508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1522-1524)gcafs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195597005_195597006insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1523dupC	3.37:g.195597012_195597012dupG	ENSP00000329425:p.Gln508fs					TNK2_ENST00000381916.2_Frame_Shift_Ins_p.A571fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.A508fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.A540fs	p.A508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2139_2140	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	508	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1522_1523insC	CCDS33928.1																																																																																				0.614	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		3	3						3	3	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(415-417)gggfs	p.G139fs		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	139					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGAAGGCTTTGGGGGGAAGGA	0.614																																						ENST00000296327.5																			0											c.(412-417)ttggggfs		solute carrier family 51, alpha subunit																																				SO:0001589	frameshift_variant	200931							g.chr3:195955037_195955038insG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.420dupG	3.37:g.195955043_195955043dupG	ENSP00000296327:p.Gly139fs						p.LG138fs	NM_152672.5	NP_689885.4					5	623_624	+								Q6ZMC7	Frame_Shift_Ins	INS	ENST00000296327.5	37	c.414_415insG	CCDS3314.1																																																																																				0.614	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	857						7	857	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs						p.R145fs	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			14	215						14	215	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs					FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		8	464						8	464	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3117148	3117160	+	Frame_Shift_Del	DEL	AGTTGGCTACTAA	AGTTGGCTACTAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:3117148_3117160delAGTTGGCTACTAA	ENST00000355072.5	+	7	1010_1022	c.865_877delAGTTGGCTACTAA	c.(865-879)agttggctactaaatfs	p.SWLLN289fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	289					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATATTTCTATAGTTGGCTACTAAATGTGCTCTT	0.469																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(865-879)atfs		huntingtin																																				SO:0001589	frameshift_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3117148_3117160delAGTTGGCTACTAA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.865_877delAGTTGGCTACTAA	4.37:g.3117148_3117160delAGTTGGCTACTAA	ENSP00000347184:p.Ser289fs						p.SWLLN289fs	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	7	1010_1022	+		all_epithelial(65;0.18)	289					Q9UQB7	Frame_Shift_Del	DEL	ENST00000355072.5	37	c.865_877delAGTTGGCTACTAA	CCDS43206.1																																																																																				0.469	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		33	151						33	151	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)gccfs	p.A464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1390-1392)catfs		leucine-rich repeat LGI family, member 2																																				SO:0001589	frameshift_variant	55203					extracellular region		g.chr4:25005320_25005321insC	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1391dupG	4.37:g.25005326_25005326dupC	ENSP00000371548:p.Ala464fs						p.H464fs	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1575_1576	-		Breast(46;0.173)	464					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Frame_Shift_Ins	INS	ENST00000382114.4	37	c.1390_1391insG	CCDS3431.1																																																																																				0.515	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			7	381						7	381	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)cccfs		Kruppel-like factor 3 (basic)																																				SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691475_38691476insC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.677dupC	4.37:g.38691482_38691482dupC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	975_976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	ENST00000261438.5	37	c.670_671insC	CCDS3444.1																																																																																				0.426	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			10	290						10	290	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs					FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	164						10	164	---	---	---	---
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:87769942_87769943insC	ENST00000273905.6	-	1	473_474	c.326_327insG	c.(325-327)ggcfs	p.G109fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	109					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGCA	0.505																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(325-327)gacfs		solute carrier family 10 (sodium/bile acid cotransporter), member 6																																				SO:0001589	frameshift_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87769942_87769943insC	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.327dupG	4.37:g.87769948_87769948dupC	ENSP00000273905:p.Gly109fs					SLC10A6_ENST00000505535.1_5'UTR	p.D109fs	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	473_474	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	109					Q70EX7	Frame_Shift_Ins	INS	ENST00000273905.6	37	c.326_327insG	CCDS3614.1																																																																																				0.505	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		11	284						11	284	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:100443777_100443778insC	ENST00000326581.4	+	3	610_611	c.248_249insC	c.(247-252)taccccfs	p.YP83fs	C4orf17_ENST00000514652.1_Frame_Shift_Ins_p.YP83fs|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.5																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(247-249)tccfs		chromosome 4 open reading frame 17																																				SO:0001589	frameshift_variant	84103							g.chr4:100443777_100443778insC	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.252dupC	4.37:g.100443781_100443781dupC	ENSP00000322582:p.Tyr83fs					C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs	p.S83fs			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	3	602_603	+			83					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Frame_Shift_Ins	INS	ENST00000326581.4	37	c.248_249insC	CCDS3649.1																																																																																				0.500	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		8	240						8	240	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.R3421fs|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455																																						ENST00000357077.4																			1	Insertion - Frameshift(1)	p.T3457fs*8(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(10360-10362)gggfs		ankyrin 2, neuronal																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114280134_114280135insG	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10367dupG	4.37:g.114280141_114280141dupG	ENSP00000349588:p.Arg3454fs					ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	p.G3454fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10413_10414	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3421					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	c.10360_10361insG	CCDS3702.1																																																																																				0.455	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		8	106						8	106	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)gggaaafs	p.K1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.K1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3811-3816)ggaatcfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125590618_125590619insC	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3814dupG	4.37:g.125590624_125590624dupC	ENSP00000425658:p.Lys1272fs					ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4850_4851	-			1272			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.3813_3814insG	CCDS34060.1																																																																																				0.391	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		12	709						12	709	---	---	---	---
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	-	G	rs368140697		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:140432891_140432892insG	ENST00000274031.3	-	8	1662_1663	c.1026_1027insC	c.(1024-1029)cccgggfs	p.G343fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	343					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609																																						ENST00000274031.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(1024-1029)ccggaafs		SET domain containing (lysine methyltransferase) 7																																				SO:0001589	frameshift_variant	80854				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	g.chr4:140432891_140432892insG	AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.1027dupC	4.37:g.140432898_140432898dupG	ENSP00000274031:p.Gly343fs					SETD7_ENST00000506866.2_Intron	p.E343fs	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN			8	1662_1663	-	all_hematologic(180;0.156)		343					B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Frame_Shift_Ins	INS	ENST00000274031.3	37	c.1026_1027insC	CCDS3748.1																																																																																				0.609	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648		7	124						7	124	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2079)atggggfs	p.MG692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.MG692fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGCGTTTGCATGGGGGGGACGT	0.589																																						ENST00000511685.1																			0											c.(2074-2076)aggfs		teneurin transmembrane protein 3																																				SO:0001589	frameshift_variant	55714							g.chr4:183609358_183609359insG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2082dupG	4.37:g.183609365_183609365dupG	ENSP00000424226:p.Met692fs					TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs|TENM3_ENST00000502950.1_3'UTR	p.R692fs							12	2198_2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	c.2075_2076insG	CCDS47165.1																																																																																				0.589	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	505						15	505	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(919-921)cctfs		tripartite motif family-like 2																																				SO:0001589	frameshift_variant	205860						ligase activity	g.chr4:189012770_189012771insG	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.921dupC	4.37:g.189012776_189012776dupG	ENSP00000422581:p.Pro307fs					TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1294_1295	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	307			B30.2/SPRY.		B7Z6J6	Frame_Shift_Ins	INS	ENST00000512729.1	37	c.920_921insC	CCDS3850.1																																																																																				0.559	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		8	474						8	474	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C	rs371280714		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-189)agccccfs	p.SP62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.SP62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589																																						ENST00000438447.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.E65fs*34(1)|p.E65fs*21(1)	large_intestine(1)|ovary(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(184-186)accfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799540_31799541insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.192dupC	5.37:g.31799547_31799547dupC	ENSP00000402033:p.Ser62fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs	p.T62fs			O15018	PDZD2_HUMAN			2	573_574	+			62					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.185_186insC	CCDS34137.1																																																																																				0.589	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			20	528						20	528	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)aggfs	p.R101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.R101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(301-303)gggfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799656_31799657insG	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.308dupG	5.37:g.31799663_31799663dupG	ENSP00000402033:p.Arg101fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			O15018	PDZD2_HUMAN			2	689_690	+			101			PDZ 1.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.301_302insG	CCDS34137.1																																																																																				0.574	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			11	382						11	382	---	---	---	---
LOC100653061	100653061	broad.mit.edu	37	5	34175819	34175820	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:34175819_34175820insC	ENST00000514048.1	-	0	452																											TAAACCAGCTTCCCCCCTTTGT	0.455																																						ENST00000514048.1																			0																																																			100653061							g.chr5:34175819_34175820insC																													5.37:g.34175825_34175825dupC														0	452	-									RNA	INS	ENST00000514048.1	37																																																																																						0.455	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000367775.1			2	4						2	4	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35700726	35700726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:35700726delA	ENST00000356031.3	+	16	2424	c.2270delA	c.(2269-2271)caafs	p.Q757fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.Q752fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	757					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCACAAAAATCCACA	0.388																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2254-2256)cafs		sperm flagellar 2							126.0	113.0	117.0					5																	35700726		1841	4082	5923	SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700726delA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2270delA	5.37:g.35700726delA	ENSP00000348314:p.Gln757fs					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Del_p.Q757fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs	p.Q752fs			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2255	+	all_lung(31;7.56e-05)		757					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	ENST00000356031.3	37	c.2255delA	CCDS43309.1																																																																																				0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		73	85						73	85	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-36)atggggfs	p.MG11fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG11fs|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCCCAAGATGGGGGGCAGGA	0.455																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(31-33)aggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608557_36608558insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.38dupG	5.37:g.36608563_36608563dupG	ENSP00000265113:p.Met11fs					SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs	p.R11fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	508_509	+	all_lung(31;0.000245)		11					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.32_33insG	CCDS3919.1																																																																																				0.455	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		8	377						8	377	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs					CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		18	1079						18	1079	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40853093	40853094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:40853093_40853094insT	ENST00000254691.5	+	3	1858_1859	c.1659_1660insT	c.(1660-1662)tttfs	p.F554fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	554					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTCAGCTGTGTTTTTTTTCAC	0.416																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1657-1662)gtttttfs		caspase recruitment domain family, member 6				6,4260		0,6,2127						1.3	0.7			101	4,8250		0,4,4123	no	frameshift	CARD6	NM_032587.3		0,10,6250	A1A1,A1R,RR		0.0485,0.1406,0.0799				10,12510				SO:0001589	frameshift_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853093_40853094insT	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1667dupT	5.37:g.40853101_40853101dupT	ENSP00000254691:p.Phe554fs					CARD6_ENST00000381677.3_Intron	p.VF553fs	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1858_1859	+			553					Q52LR2	Frame_Shift_Ins	INS	ENST00000254691.5	37	c.1659_1660insT	CCDS3935.1																																																																																				0.416	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			8	529						8	529	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96	GRCh37	CD982526	C6	D		c.(826-831)gggctcfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181559_41181560insC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.829dupG	5.37:g.41181566_41181566dupC	ENSP00000263413:p.Ser277fs					C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			7	1092_1093	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	277			MACPF.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.828_829insG	CCDS3936.1																																																																																				0.376	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			9	209						9	209	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000512301.1_RNA	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs					MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs	p.*85fs			O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		12	369						12	369	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs						p.T1965fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		14	409						14	409	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)taafs		glucosaminyl (N-acetyl) transferase 4, core 2																																				SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324982_74324983insG	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs						p.*294fs	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741_1742	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Ins	INS	ENST00000322348.4	37	c.880_881insC	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		13	163						13	163	---	---	---	---
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2035-2037)aaafs	p.K679fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	679					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(2032-2037)aaaaaafs		angiogenic factor with G patch and FHA domains 1																																				SO:0001589	frameshift_variant	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76358966_76358967insA	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.2042dupA	5.37:g.76358974_76358974dupA	ENSP00000316109:p.Lys679fs						p.KK678fs	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	14	2416_2417	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	678					O00581|Q53YS3|Q9BU84|Q9NW66	Frame_Shift_Ins	INS	ENST00000312916.7	37	c.2034_2035insA	CCDS4035.1																																																																																				0.465	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		7	879						7	879	---	---	---	---
BHMT	635	broad.mit.edu	37	5	78417151	78417152	+	Frame_Shift_Ins	INS	-	-	C	rs60947960	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:78417151_78417152insC	ENST00000274353.5	+	5	695_696	c.588_589insC	c.(589-591)cccfs	p.P197fs	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	197	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCATGGCGTGCCCCCCGGCGA	0.49																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(586-591)gtccccfs		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78417151_78417152insC	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.594dupC	5.37:g.78417157_78417157dupC	ENSP00000274353:p.Pro197fs					BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	p.VP196fs	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	5	695_696	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	196			Hcy-binding.		Q9UNI9	Frame_Shift_Ins	INS	ENST00000274353.5	37	c.588_589insC	CCDS4046.1																																																																																				0.490	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		8	711						8	711	---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118969956	118969957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:118969956_118969957insC	ENST00000515256.1	+	3	685_686	c.513_514insC	c.(514-516)cccfs	p.P172fs				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	172					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GGGTAGGTACTCCCCCCTCTGA	0.54																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(511-516)acccccfs		family with sequence similarity 170, member A																																				SO:0001589	frameshift_variant	340069					intracellular	zinc ion binding	g.chr5:118969956_118969957insC	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.519dupC	5.37:g.118969962_118969962dupC	ENSP00000422684:p.Pro172fs						p.TP171fs			A1A519	F170A_HUMAN			3	685_686	+			171					Q66LM8|Q7Z4V2|Q8IW94	Frame_Shift_Ins	INS	ENST00000515256.1	37	c.513_514insC																																																																																					0.540	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		9	652						9	652	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984683	123984684	+	Frame_Shift_Ins	INS	-	-	C	rs565938874		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:123984683_123984684insC	ENST00000306315.5	-	4	1828_1829	c.1393_1394insG	c.(1393-1395)gccfs	p.A465fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.A38fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	465							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCTG	0.629																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1393-1395)caafs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123984683_123984684insC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1394dupG	5.37:g.123984690_123984690dupC	ENSP00000307746:p.Ala465fs					ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.Q38fs	p.Q465fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1828_1829	-		all_cancers(142;0.186)|Prostate(80;0.081)	465					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Ins	INS	ENST00000306315.5	37	c.1393_1394insG	CCDS34219.1																																																																																				0.629	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		11	242						11	242	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		17	1584						17	1584	---	---	---	---
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:133473764_133473765insC	ENST00000321584.4	+	4	652_653	c.456_457insC	c.(457-459)cccfs	p.P153fs	TCF7_ENST00000395023.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.P38fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000395029.1_Frame_Shift_Ins_p.P153fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.P38fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	153					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574																																						ENST00000395029.1																			0				kidney(2)|large_intestine(7)|lung(2)|skin(1)	12						c.(454-459)caccccfs		transcription factor 7 (T-cell specific, HMG-box)																																				SO:0001589	frameshift_variant	6932				cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding	g.chr5:133473764_133473765insC	Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.463dupC	5.37:g.133473771_133473771dupC	ENSP00000326540:p.Pro153fs					TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs	p.HP152fs			P36402	TCF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	651_652	+		Breast(839;0.058)	152					B3KSH3|Q86WR9|Q9UKI4	Frame_Shift_Ins	INS	ENST00000321584.4	37	c.456_457insC																																																																																					0.574	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634		7	171						7	171	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2902-2904)cccfs	p.P968fs	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	968					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2899-2904)caccccfs		SEC24 family member A																																				SO:0001589	frameshift_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134053794_134053795insC	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2907dupC	5.37:g.134053800_134053800dupC	ENSP00000381823:p.Pro968fs						p.HP967fs	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		20	3189_3190	+			967					A8MVW3|Q8WUV2|Q96GP7	Frame_Shift_Ins	INS	ENST00000398844.2	37	c.2901_2902insC	CCDS43363.1																																																																																				0.426	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			8	461						8	461	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:135207263_135207264insG	ENST00000420621.1	+	5	707_708	c.535_536insG	c.(535-537)cggfs	p.R179fs	SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.R125fs			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(535-537)gggfs		solute carrier family 25, member 48																																				SO:0001589	frameshift_variant	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135207263_135207264insG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.541dupG	5.37:g.135207269_135207269dupG	ENSP00000407973:p.Arg179fs					SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs	p.G179fs			Q6ZT89	S2548_HUMAN			5	707_708	+			179					Q8TAV9	Frame_Shift_Ins	INS	ENST00000420621.1	37	c.535_536insG																																																																																					0.604	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		10	525						10	525	---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137680862	137680863	+	Frame_Shift_Ins	INS	-	-	C	rs375232930		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:137680862_137680863insC	ENST00000239906.5	+	4	913_914	c.485_486insC	c.(484-489)agccccfs	p.SP162fs	FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.SP162fs|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	162										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTCACCAGAGCCCCCCAAAGC	0.668																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(484-486)accfs		family with sequence similarity 53, member C																																				SO:0001589	frameshift_variant	51307							g.chr5:137680862_137680863insC	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.491dupC	5.37:g.137680868_137680868dupC	ENSP00000239906:p.Ser162fs					FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.T162fs	p.T162fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	913_914	+			162					B2RDJ5|D3DQB9	Frame_Shift_Ins	INS	ENST00000239906.5	37	c.485_486insC	CCDS4204.1																																																																																				0.668	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		8	240						8	240	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(766-768)gggfs	p.G256fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(763-768)ccggggfs		pleckstrin and Sec7 domain containing 2																																				SO:0001589	frameshift_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139193287_139193288insG	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.772dupG	5.37:g.139193294_139193294dupG	ENSP00000274710:p.Gly256fs						p.PG255fs	NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	970_971	+			255					D3DQD3|Q8N3J8	Frame_Shift_Ins	INS	ENST00000274710.3	37	c.765_766insG	CCDS4216.1																																																																																				0.614	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		18	349						18	349	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579531	140579532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140579531_140579532insG	ENST00000354757.3	+	1	184_185	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCGG	0.51																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(184-186)gggfs																																						SO:0001589	frameshift_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579531_140579532insG	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.190dupG	5.37:g.140579537_140579537dupG	ENSP00000346802:p.Arg62fs					PCDHB11_ENST00000536699.1_Intron	p.G62fs	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	184_185	+			62			Cadherin 1.		B4DSF7|Q2M223	Frame_Shift_Ins	INS	ENST00000354757.3	37	c.184_185insG	CCDS4253.1																																																																																				0.510	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		9	350						9	350	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745935	140745936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140745935_140745936insC	ENST00000518069.1	+	1	2038_2039	c.2038_2039insC	c.(2038-2040)accfs	p.T680fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	680	Cadherin 6. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTATCAAGACCCCCATTGAC	0.604																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(2038-2040)cccfs																																						SO:0001589	frameshift_variant	56110							g.chr5:140745935_140745936insC	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2043dupC	5.37:g.140745940_140745940dupC	ENSP00000429834:p.Thr680fs					PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.P680fs	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2038_2039	+								Q2M3F5|Q9Y5D2	Frame_Shift_Ins	INS	ENST00000518069.1	37	c.2038_2039insC	CCDS54925.1																																																																																				0.604	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		11	1676						11	1676	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C	rs201111122		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)gccfs	p.A682fs	PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2044-2046)cccfs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857727_140857728insC	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2050dupC	5.37:g.140857733_140857733dupC	ENSP00000312070:p.Ala682fs		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P682fs	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148_2149	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2044_2045insC	CCDS4261.1																																																																																				0.515	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		11	488						11	488	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)caafs	p.Q462fs	FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.Q388fs|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.Q386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)agcfs		FCH and double SH3 domains 1																																				SO:0001589	frameshift_variant	89848							g.chr5:141024642_141024643insG	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1385dupC	5.37:g.141024648_141024648dupG	ENSP00000399259:p.Gln462fs					FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	p.S462fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1434_1435	-			462					Q6UX75|Q86Y77|Q9NXX8	Frame_Shift_Ins	INS	ENST00000435817.2	37	c.1384_1385insC	CCDS47295.1																																																																																				0.589	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		12	279						12	279	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2284-2289)ggggatfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049341_141049342insC	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2287dupG	5.37:g.141049347_141049347dupC	ENSP00000239440:p.Arg763fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			16	2351_2352	-			763					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2286_2287insG	CCDS4266.1																																																																																				0.579	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		16	1090						16	1090	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	p.P743fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		16	1226						16	1226	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141050869	141050870	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141050869_141050870insG	ENST00000239440.4	-	13	2017_2018	c.1952_1953insC	c.(1951-1953)ccafs	p.P651fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P313fs|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	651					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CATCAGGGGCTGGGGGGAACCA	0.594																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1951-1953)cgcfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141050869_141050870insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1953dupC	5.37:g.141050875_141050875dupG	ENSP00000239440:p.Pro651fs					ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R313fs|ARAP3_ENST00000508305.1_Intron	p.R651fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			13	2017_2018	-			651					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.1952_1953insC	CCDS4266.1																																																																																				0.594	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		10	534						10	534	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141242814_141242815insG	ENST00000394536.3	-	3	3220_3221	c.3081_3082insC	c.(3079-3084)cccaaafs	p.K1028fs	PCDH1_ENST00000287008.3_Frame_Shift_Ins_p.K1028fs|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.K1006fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.K1016fs	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(3079-3084)ccaatafs		protocadherin 1																																				SO:0001589	frameshift_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141242814_141242815insG	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.3082dupC	5.37:g.141242821_141242821dupG	ENSP00000378043:p.Lys1028fs					PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000503492.1_Intron	p.I1028fs	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	3228_3229	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	1028					Q8IUP2	Frame_Shift_Ins	INS	ENST00000394536.3	37	c.3081_3082insC	CCDS43375.1																																																																																				0.634	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		14	345						14	345	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141244441	141244442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141244441_141244442insG	ENST00000394536.3	-	3	1593_1594	c.1454_1455insC	c.(1453-1455)ccafs	p.P485fs	PCDH1_ENST00000287008.3_Frame_Shift_Ins_p.P485fs|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	485	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCTGGAGAGTGGGGGGTTGCC	0.53																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(1453-1455)cctfs		protocadherin 1																																				SO:0001589	frameshift_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244441_141244442insG	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1455dupC	5.37:g.141244447_141244447dupG	ENSP00000378043:p.Pro485fs					PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.P485fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000503492.1_Intron	p.P485fs	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1601_1602	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	485			Cadherin 4.		Q8IUP2	Frame_Shift_Ins	INS	ENST00000394536.3	37	c.1454_1455insC	CCDS43375.1																																																																																				0.530	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		10	997						10	997	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs						p.V224fs	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		13	467						13	467	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs					SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			10	580						10	580	---	---	---	---
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:142586762_142586763insC	ENST00000274498.4	+	21	2366_2367		c.e21-1		ARHGAP26_ENST00000378004.3_Splice_Site|ARHGAP26_ENST00000486650.1_Intron	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579																																						ENST00000378004.3																			1	Unknown(1)	p.?(1)	endometrium(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.e21-1		Rho GTPase activating protein 26																																				SO:0001630	splice_region_variant	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142586762_142586763insC	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1989-1->C	5.37:g.142586768_142586768dupC						ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron		NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	2343_2344	+		all_hematologic(541;0.0416)						O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	INS	ENST00000274498.4	37		CCDS4277.1																																																																																				0.579	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	Intron	21	655						21	655	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)accfs	p.T276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.T276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(826-828)cccfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149580754_149580755insC	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.832dupC	5.37:g.149580760_149580760dupC	ENSP00000230671:p.Thr276fs					SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1197_1198	+		all_hematologic(541;0.224)	276					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.826_827insC	CCDS4305.1																																																																																				0.634	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		8	388						8	388	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs					TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs	p.P665fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		11	462						11	462	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150886793	150886794	+	Frame_Shift_Ins	INS	-	-	G	rs368309685		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:150886793_150886794insG	ENST00000261800.5	-	22	12450_12451	c.12438_12439insC	c.(12436-12441)cccagafs	p.R4147fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4147					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGGAGTCTGGGGGGCACAC	0.559																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12436-12441)ccgactfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150886793_150886794insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12439dupC	5.37:g.150886799_150886799dupG	ENSP00000261800:p.Arg4147fs						p.T4147fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12450_12451	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4147					O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.12438_12439insC	CCDS4317.1																																																																																				0.559	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		14	736						14	736	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)tggfs	p.W460fs	GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.W133fs|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.W398fs|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	460	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)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGTG	0.535																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1378-1380)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)																																				SO:0001589	frameshift_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789314_153789315insG	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1384dupG	5.37:g.153789320_153789320dupG	ENSP00000297107:p.Trp460fs					GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000524264.1_RNA	p.G460fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1515_1516	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	460			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Ins	INS	ENST00000297107.6	37	c.1378_1379insG	CCDS4325.1																																																																																				0.535	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		10	581						10	581	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs						p.PG580fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		17	544						17	544	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs					ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs	p.T843fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	524						7	524	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116011	161116012	+	Frame_Shift_Ins	INS	-	-	G	rs143274925		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:161116011_161116012insG	ENST00000274545.5	+	4	715_716	c.282_283insG	c.(283-285)gggfs	p.G95fs	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Frame_Shift_Ins_p.G85fs			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	95					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GGTTGAAGTTTGGGGGGCCAAC	0.406										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-255)ttggggfs		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116011_161116012insG		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.288dupG	5.37:g.161116017_161116017dupG	ENSP00000274545:p.Gly95fs	TCGA Ovarian(5;0.080)				RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Frame_Shift_Ins_p.LG94fs	p.LG84fs	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	494_495	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94					A8K096|Q4VAV2	Frame_Shift_Ins	INS	ENST00000274545.5	37	c.252_253insG	CCDS4356.1																																																																																				0.406	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			7	330						7	330	---	---	---	---
GPRIN1	114787	broad.mit.edu	37	5	176026664	176026665	+	Frame_Shift_Ins	INS	-	-	G	rs139277418	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:176026664_176026665insG	ENST00000303991.4	-	2	348_349	c.171_172insC	c.(169-174)cccaggfs	p.R58fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	58					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGTGCCTGGGGGGTGCAG	0.658																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(169-174)ccggcafs		G protein regulated inducer of neurite outgrowth 1																																				SO:0001589	frameshift_variant	114787					growth cone|plasma membrane		g.chr5:176026664_176026665insG	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.172dupC	5.37:g.176026670_176026670dupG	ENSP00000305839:p.Arg58fs						p.A58fs	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	348_349	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	58					C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Ins	INS	ENST00000303991.4	37	c.171_172insC	CCDS4405.1																																																																																				0.658	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		8	217						8	217	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		12	451						12	451	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC						GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	p.PP251fs	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		9	242						9	242	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																						ENST00000378454.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(970-972)agcfs		doublecortin domain containing 2			,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205282_24205283insC	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs					DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	p.S324fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN			8	1271_1272	-		Ovarian(999;0.101)	324					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	c.970_971insG	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		14	1247						14	1247	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	3'UTR	INS	-	-	G	rs6933271	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:30867830_30867831insG	ENST00000324771.8	+	0	4047_4048				DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.W433fs|DDR1_ENST00000452441.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441																																						ENST00000361741.4																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1297-1299)gggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001624	3_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30867830_30867831insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.*758->G	6.37:g.30867836_30867836dupG						DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376568.3_3'UTR	p.G433fs			Q08345	DDR1_HUMAN			12	1492_1493	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1297_1298insG	CCDS34385.1																																																																																				0.441	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		10	808						10	808	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|DDAH2_ENST00000480913.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered					C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			5	558_559	+			0					Q5SRS8|Q8IY94	Frame_Shift_Ins	INS	ENST00000375819.2	37	c.547_548insC	CCDS4714.1																																																																																				0.579	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			14	306						14	306	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32181941	32181942	+	Frame_Shift_Ins	INS	-	-	C	rs143622513		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:32181941_32181942insC	ENST00000375023.3	-	13	2250_2251	c.2112_2113insG	c.(2110-2115)gggaccfs	p.T705fs	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	705	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTAGCAGGTCCCCCCATGGG	0.604																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2110-2115)ggcctgfs		notch 4																																				SO:0001589	frameshift_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32181941_32181942insC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2113dupG	6.37:g.32181947_32181947dupC	ENSP00000364163:p.Thr705fs					NOTCH4_ENST00000465528.1_5'UTR	p.L705fs	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			13	2250_2251	-			705			EGF-like 18.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Ins	INS	ENST00000375023.3	37	c.2112_2113insG	CCDS34420.1																																																																																				0.604	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	969						8	969	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		12	649						12	649	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""N, F, S"""	"""Fanconi anemia, complementation group E"""			L		"""AML, leukemia"""			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(922-924)cccfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E				16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425714_35425715insC	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs						p.P308fs	NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN			4	1107_1108	+			308			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	ENST00000229769.2	37	c.922_923insC	CCDS4805.1																																																																																				0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			9	250						9	250	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39874149	39874150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:39874149_39874150insC	ENST00000340692.5	-	11	1897_1898	c.1894_1895insG	c.(1894-1896)gacfs	p.D632fs	MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.D632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000308559.7_Frame_Shift_Ins_p.D616fs|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.D529fs			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	632	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCGATGGAAGTCCCCCCGCTGA	0.579																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1846-1848)cttfs		molybdenum cofactor synthesis 1																																				SO:0001589	frameshift_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874149_39874150insC	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1895dupG	6.37:g.39874155_39874155dupC	ENSP00000344794:p.Asp632fs					MOCS1_ENST00000340692.5_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Frame_Shift_Ins_p.L529fs|MOCS1_ENST00000425303.2_Frame_Shift_Ins_p.L632fs|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR	p.L616fs			Q9NZB8	MOCS1_HUMAN			10	1979_1980	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		632			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Frame_Shift_Ins	INS	ENST00000340692.5	37	c.1846_1847insG																																																																																					0.579	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		7	477						7	477	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43111195	43111196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:43111195_43111196insC	ENST00000230419.4	+	14	2309_2310	c.2088_2089insC	c.(2089-2091)cccfs	p.P697fs	PTK7_ENST00000349241.2_Frame_Shift_Ins_p.P567fs|PTK7_ENST00000352931.2_Frame_Shift_Ins_p.P641fs|PTK7_ENST00000481273.1_Frame_Shift_Ins_p.P705fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.P657fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGCAGCCCTCCCCCCTACAA	0.604											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2086-2091)ccccccfs		protein tyrosine kinase 7																																				SO:0001589	frameshift_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111195_43111196insC	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2094dupC	6.37:g.43111201_43111201dupC	ENSP00000230419:p.Pro697fs		OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000481273.1_Frame_Shift_Ins_p.PP704fs|PTK7_ENST00000345201.2_Frame_Shift_Ins_p.PP656fs|PTK7_ENST00000352931.2_Frame_Shift_Ins_p.PP640fs|PTK7_ENST00000349241.2_Frame_Shift_Ins_p.PP566fs	p.PP696fs	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2309_2310	+			696					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Frame_Shift_Ins	INS	ENST00000230419.4	37	c.2088_2089insC	CCDS4884.1																																																																																				0.604	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			15	484						15	484	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)cccfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039410_55039411insC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.32dupC	6.37:g.55039417_55039417dupC	ENSP00000359899:p.Ser9fs						p.P9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	361_362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.25_26insC	CCDS4956.1																																																																																				0.564	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			10	224						10	224	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(361-363)tttfs	p.F121fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	121					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(358-363)tgttttfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113573_55113574insT	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.366dupT	6.37:g.55113579_55113579dupT	ENSP00000359899:p.Phe121fs						p.CF120fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	696_697	+	Lung NSC(77;0.107)|Renal(3;0.122)		120					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.360_361insT	CCDS4956.1																																																																																				0.431	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			7	742						7	742	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:87725846_87725847insC	ENST00000305344.5	+	2	1497_1498	c.794_795insC	c.(793-798)atccccfs	p.IP265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCCATCAGGATCCCCCCCTTCG	0.51																																						ENST00000305344.4																			1	Insertion - Frameshift(1)	p.F268fs*4(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(793-795)accfs		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)																																			SO:0001589	frameshift_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725846_87725847insC		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.801dupC	6.37:g.87725853_87725853dupC	ENSP00000307766:p.Ile265fs					HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1497_1498	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	265					E1P503|Q9P1Y1	Frame_Shift_Ins	INS	ENST00000305344.5	37	c.794_795insC	CCDS5006.1																																																																																				0.510	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		8	595						8	595	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:111693903_111693904insG	ENST00000358835.3	-	14	6108_6109	c.5654_5655insC	c.(5653-5655)ccafs	p.P1885fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.P1885fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.P1807fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5419-5421)cagfs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693903_111693904insG	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5655dupC	6.37:g.111693910_111693910dupG	ENSP00000351697:p.Pro1885fs					REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs	p.Q1807fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6236_6237	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1885					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.5420_5421insC	CCDS5091.2																																																																																				0.431	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		24	428						24	428	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		20	525						20	525	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G	rs554628923	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GTGTGCCTCCCGGGGGGGAGGT	0.569																																						ENST00000486256.1																			0																																																			441194							g.chr7:6759412_6759413insG	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6759419_6759419dupG								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.569	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		11	267						11	267	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:13975472_13975473insG	ENST00000430479.1	-	8	1081_1082	c.414_415insC	c.(412-417)cccacafs	p.T139fs	ETV1_ENST00000343495.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	139					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.53			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(358-363)cccaccfs		ets variant 1																																				SO:0001589	frameshift_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975472_13975473insG		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.415dupC	7.37:g.13975479_13975479dupG	ENSP00000405327:p.Thr139fs					ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs	p.T121fs			P50549	ETV1_HUMAN			7	1098_1099	-			139					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Frame_Shift_Ins	INS	ENST00000430479.1	37	c.360_361insC	CCDS55088.1																																																																																				0.530	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		18	503						18	503	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)tcafs	p.S626fs	OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.S559fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.S559fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.S590fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.S590fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	626					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TACCTGTTCTGAAAAAAACTGG	0.421																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1876-1878)agafs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24870394_24870395insA	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1877dupT	7.37:g.24870401_24870401dupA	ENSP00000315410:p.Ser626fs					OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs	p.R626fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			16	2327_2328	-			626					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Ins	INS	ENST00000313367.2	37	c.1876_1877insT	CCDS5390.1																																																																																				0.421	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	824						7	824	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148052	27148053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:27148052_27148053insG	ENST00000396352.4	-	3	1012_1013	c.813_814insC	c.(811-816)cccggafs	p.G272fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.G272fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	272					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCACCGGCTCCGGGGGGCACGG	0.619																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(811-816)ccgagcfs		homeobox A3																																				SO:0001589	frameshift_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148052_27148053insG		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.814dupC	7.37:g.27148058_27148058dupG	ENSP00000379640:p.Gly272fs					HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.S272fs	p.S272fs	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1012_1013	-			272					A4D181	Frame_Shift_Ins	INS	ENST00000396352.4	37	c.813_814insC	CCDS5404.1																																																																																				0.619	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			7	291						7	291	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31142950	31142959	+	Frame_Shift_Del	DEL	CGTGTTTGAG	CGTGTTTGAG	-	rs527816186	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:31142950_31142959delCGTGTTTGAG	ENST00000304166.4	+	14	1435_1444	c.1146_1155delCGTGTTTGAG	c.(1144-1155)ctcgtgtttgagfs	p.LVFE382fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	382					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGAAAGACTCGTGTTTGAGCTGGGGCTGG	0.586																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(1144-1155)ctfs		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I																																				SO:0001589	frameshift_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31142950_31142959delCGTGTTTGAG		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1146_1155delCGTGTTTGAG	7.37:g.31142950_31142959delCGTGTTTGAG	ENSP00000306620:p.Leu382fs					ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs	p.LVFE382fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			14	1435_1444	+			382					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	ENST00000304166.4	37	c.1146_1155delCGTGTTTGAG	CCDS5433.1																																																																																				0.586	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		31	97						31	97	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:40899961_40899962insC	ENST00000335693.4	+	14	1244_1245	c.1221_1222insC	c.(1222-1224)cccfs	p.P408fs	C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.P360fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Frame_Shift_Ins_p.P434fs	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		408					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1297-1302)ccccccfs		chromosome 7 open reading frame 10																																				SO:0001589	frameshift_variant	79783						transferase activity	g.chr7:40899961_40899962insC																												ENST00000335693.4:c.1226dupC	7.37:g.40899966_40899966dupC	ENSP00000338475:p.Pro408fs					C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	p.PP433fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			15	1323_1324	+			407					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Frame_Shift_Ins	INS	ENST00000335693.4	37	c.1299_1300insC	CCDS55105.1																																																																																				0.569	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			9	893						9	893	---	---	---	---
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G	rs368613191		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:51287561_51287562insG	ENST00000265136.7	-	2	286_287	c.121_122insC	c.(121-123)cacfs	p.H41fs	COBL_ENST00000441453.1_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395542.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.H41fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(121-123)cgafs		cordon-bleu WH2 repeat protein																																				SO:0001589	frameshift_variant	23242							g.chr7:51287561_51287562insG	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.122dupC	7.37:g.51287568_51287568dupG	ENSP00000265136:p.His41fs					COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs|COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs	p.R41fs			O75128	COBL_HUMAN			2	305_306	-	Glioma(55;0.08)		41					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	c.121_122insC	CCDS34637.1																																																																																				0.604	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		7	177						7	177	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-690)caccccfs	p.HP229fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.HP138fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	229					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						GTCCCCCAGCACCCCCCACACA	0.649																																						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.(685-687)cccfs		deltex homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112242_76112243insC		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.692dupC	7.37:g.76112248_76112248dupC	ENSP00000322885:p.His229fs					DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs	p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1196_1197	+			229					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Ins	INS	ENST00000324432.5	37	c.686_687insC	CCDS5587.1																																																																																				0.649	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			20	606						20	606	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs	p.R3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11465_11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	412						18	412	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T	rs375737733		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)accfs	p.T487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.48																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1459-1461)caafs		zinc finger, CW type with PWWP domain 1																																				SO:0001589	frameshift_variant	55063						zinc ion binding	g.chr7:100000150_100000151insT	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1460dupA	7.37:g.100000156_100000156dupT	ENSP00000381109:p.Thr487fs					ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	p.Q487fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			16	1706_1707	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		487					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Frame_Shift_Ins	INS	ENST00000398027.2	37	c.1459_1460insA	CCDS43623.1																																																																																				0.480	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		10	3009						10	3009	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs						p.S389fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		39	866						39	866	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-360)atggggfs	p.MG119fs	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(355-357)aggfs		adaptor-related protein complex 1, sigma 1 subunit																																				SO:0001589	frameshift_variant	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100802404_100802405insG	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.364dupG	7.37:g.100802412_100802412dupG	ENSP00000336666:p.Met119fs						p.R119fs	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			4	474_475	+	Lung NSC(181;0.168)|all_lung(186;0.215)		119					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Frame_Shift_Ins	INS	ENST00000337619.5	37	c.356_357insG	CCDS47669.1																																																																																				0.564	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		13	184						13	184	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100856125	100856126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:100856125_100856126insC	ENST00000223127.3	-	8	1274_1275	c.876_877insG	c.(874-879)gggcagfs	p.Q293fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	293					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTCACCTGCCCCCCCGGGA	0.673																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(874-879)ggagccfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)			29,4225		1,27,2099						4.0	1.0			29	20,8212		0,20,4096	no	frameshift	PLOD3	NM_001084.4		1,47,6195	A1A1,A1R,RR		0.243,0.6817,0.3924				49,12437				SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100856125_100856126insC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.877dupG	7.37:g.100856132_100856132dupC	ENSP00000223127:p.Gln293fs						p.A293fs	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			8	1274_1275	-	Lung NSC(181;0.168)|all_lung(186;0.215)		293					B2R6W6|Q540C3	Frame_Shift_Ins	INS	ENST00000223127.3	37	c.876_877insG	CCDS5715.1																																																																																				0.673	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			7	183						7	183	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs					CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	p.NP1127fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		9	1700						9	1700	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:128610258_128610259insG	ENST00000265388.5	-	20	2684_2685	c.2541_2542insC	c.(2539-2544)ccctatfs	p.Y848fs	TNPO3_ENST00000393245.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2641-2646)ccatacfs		transportin 3																																				SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610258_128610259insG	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2542dupC	7.37:g.128610265_128610265dupG	ENSP00000265388:p.Tyr848fs					TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs	p.Y882fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	3016_3017	-			848					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Ins	INS	ENST00000265388.5	37	c.2643_2644insC	CCDS5809.1																																																																																				0.485	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		34	580						34	580	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC														0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		7	483						7	483	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs						p.I424fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	523						10	523	---	---	---	---
TMEM139	135932	broad.mit.edu	37	7	142983604	142983605	+	Frame_Shift_Ins	INS	-	-	C	rs200902226		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:142983604_142983605insC	ENST00000359333.3	+	3	846_847	c.333_334insC	c.(334-336)cccfs	p.P112fs	AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409102.1_Frame_Shift_Ins_p.P112fs|TMEM139_ENST00000409244.1_Frame_Shift_Ins_p.P112fs|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000410004.1_Frame_Shift_Ins_p.P112fs|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000409541.1_Frame_Shift_Ins_p.P112fs	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	112						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGACCAACCACCCCCCTACAG	0.574																																						ENST00000359333.3																			0				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7						c.(331-336)ccccccfs		transmembrane protein 139																																				SO:0001589	frameshift_variant	135932					integral to membrane		g.chr7:142983604_142983605insC	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.339dupC	7.37:g.142983610_142983610dupC	ENSP00000352284:p.Pro112fs					TMEM139_ENST00000409102.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000410004.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000409244.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409541.1_Frame_Shift_Ins_p.PP111fs|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	p.PP111fs	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN			3	846_847	+	Melanoma(164;0.059)		111					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Frame_Shift_Ins	INS	ENST00000359333.3	37	c.333_334insC	CCDS5878.1																																																																																				0.574	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		8	320						8	320	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000397238.2_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.e4-1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3																																				SO:0001630	splice_region_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814456_150814457insG	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.-206-1->G	7.37:g.150814462_150814462dupG						AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site		NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			4	478	+								B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Splice_Site	INS	ENST00000463381.1	37																																																																																						0.579	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	Intron	7	410						7	410	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)cccaacfs	p.N291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.N32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(868-873)ccacacfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793280_37793281insG	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.871dupC	8.37:g.37793287_37793287dupG	ENSP00000303077:p.Asn291fs					GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	p.H291fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	969_970	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	291					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.870_871insC	CCDS47839.1																																																																																				0.609	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		9	234						9	234	---	---	---	---
GINS4	84296	broad.mit.edu	37	8	41397486	41397487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:41397486_41397487insC	ENST00000276533.3	+	6	657_658	c.447_448insC	c.(448-450)cccfs	p.P150fs	RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000578500.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Frame_Shift_Ins_p.P150fs|GINS4_ENST00000523277.2_Frame_Shift_Ins_p.P150fs	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	150					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGAAGCACATGCCCCCTAACTT	0.53																																						ENST00000523277.2																			0				breast(1)|lung(2)|skin(1)	4						c.(445-450)atccccfs		GINS complex subunit 4 (Sld5 homolog)																																				SO:0001589	frameshift_variant	84296				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr8:41397486_41397487insC	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.452dupC	8.37:g.41397491_41397491dupC	ENSP00000276533:p.Pro150fs					GINS4_ENST00000518671.1_Frame_Shift_Ins_p.IP149fs|GINS4_ENST00000276533.3_Frame_Shift_Ins_p.IP149fs|RP11-360L9.4_ENST00000523081.1_RNA	p.IP149fs			Q9BRT9	SLD5_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		6	614_615	+	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	149					B2R8H5|D3DSY0|Q8N648	Frame_Shift_Ins	INS	ENST00000276533.3	37	c.447_448insC	CCDS6116.1																																																																																				0.530	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336		7	2677						7	2677	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)gccfs	p.A13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	13					brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										GAGAGGCCTCGCCCCCCGAGAG	0.54																																						ENST00000331373.5																			0											c.(37-39)cccfs						3,4261		0,3,2129						-9.6	0.0			82	3,8251		0,3,4124	no	frameshift	SGK196	NM_032237.3		0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479				6,12512				SO:0001589	frameshift_variant	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42958728_42958729insC		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.43dupC	8.37:g.42958734_42958734dupC	ENSP00000331258:p.Ala13fs						p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			4	292_293	+			13						Frame_Shift_Ins	INS	ENST00000331373.5	37	c.37_38insC	CCDS6141.1																																																																																				0.540	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		7	320						7	320	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs					ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	p.P1552fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		7	159						7	159	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131073124	131073125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:131073124_131073125insG	ENST00000518721.1	-	28	3119_3120	c.2892_2893insC	c.(2890-2895)cccaaafs	p.K965fs	ASAP1_ENST00000357668.1_Frame_Shift_Ins_p.K965fs	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	965	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGTT	0.599																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2890-2895)ccaaccfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073124_131073125insG	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2893dupC	8.37:g.131073130_131073130dupG	ENSP00000429900:p.Lys965fs					ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T965fs	p.T965fs			Q9ULH1	ASAP1_HUMAN			27	2919_2920	-			965			Pro-rich.		B2RNV3	Frame_Shift_Ins	INS	ENST00000518721.1	37	c.2892_2893insC	CCDS6362.1																																																																																				0.599	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		7	260						7	260	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131793125	131793126	+	Splice_Site	INS	-	-	G	rs199731937	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:131793125_131793126insG	ENST00000286355.5	-	18	5361		c.e18-2		ADCY8_ENST00000377928.3_Splice_Site	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCTGATGCCTGGGGGGTGAAG	0.554										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.e18-2		adenylate cyclase 8 (brain)																																				SO:0001630	splice_region_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131793125_131793126insG	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3269-2->C	8.37:g.131793131_131793131dupG		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Splice_Site		NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5361	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)								Splice_Site	INS	ENST00000286355.5	37		CCDS6363.1																																																																																				0.554	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Intron	7	419						7	419	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)cccgccfs	p.A603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.A603fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	603	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CCATCCCCGGCGGGGGGGTGAG	0.644																																						ENST00000220592.5																			0											c.(1804-1809)ccccggfs		argonaute RISC catalytic component 2																																				SO:0001589	frameshift_variant	27161							g.chr8:141554344_141554345insG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1807dupC	8.37:g.141554351_141554351dupG	ENSP00000220592:p.Ala603fs					AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	p.R603fs	NM_012154.3	NP_036286.2					14	1918_1919	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Ins	INS	ENST00000220592.5	37	c.1806_1807insC	CCDS6380.1																																																																																				0.644	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			13	275						13	275	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6536174	6536174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:6536174delA	ENST00000321612.6	-	23	2878	c.2728delT	c.(2728-2730)tcgfs	p.S910fs		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	910					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTGTCCTCCGACTCAGTGGGC	0.572																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2728-2730)cgfs		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						47.0	38.0	41.0					9																	6536174		2203	4300	6503	SO:0001589	frameshift_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6536174delA	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2728delT	9.37:g.6536174delA	ENSP00000370737:p.Ser910fs						p.S910fs	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	23	2878	-		Acute lymphoblastic leukemia(23;0.161)	910					Q2M2F8	Frame_Shift_Del	DEL	ENST00000321612.6	37	c.2728delT	CCDS34987.1																																																																																				0.572	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		7	69						7	69	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000379084.1_Splice_Site_p.N147fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						ENST00000445726.1																			0											c.(490-495)ccagtcfs		family with sequence similarity 219, member A																																				SO:0001589	frameshift_variant	203259							g.chr9:34401027_34401028insG	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs					FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs|FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN			6	798_799	-			165					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	ENST00000445726.1	37	c.492_493insC	CCDS55304.1																																																																																				0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940		8	71						8	71	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043649	35043650	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:35043649_35043650insC	ENST00000312292.5	+	2	1070_1071	c.1023_1024insC	c.(1024-1026)cccfs	p.P342fs	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.P294fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.P269fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	342										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCCA	0.53																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1021-1026)ccccccfs		chromosome 9 open reading frame 131			,,,	3,4257		0,3,2127					,,,	0.8	0.0			197	0,8242		0,0,4121	no	frameshift,frameshift,frameshift,frameshift	C9orf131	NM_203299.2,NM_001040412.1,NM_001040411.1,NM_001040410.1	,,,	0,3,6248	A1A1,A1R,RR		0.0,0.0704,0.024	,,,	,,,		3,12499				SO:0001589	frameshift_variant	138724							g.chr9:35043649_35043650insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1029dupC	9.37:g.35043655_35043655dupC	ENSP00000308279:p.Pro342fs					C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.PP268fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.PP293fs	p.PP341fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1070_1071	+	all_epithelial(49;0.22)		341					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.1023_1024insC	CCDS6572.2																																																																																				0.530	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		7	1133						7	1133	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1102-1104)cccfs	p.P368fs	CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	368					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609																																						ENST00000336395.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1099-1104)tcccccfs		testis-specific kinase 1																																				SO:0001589	frameshift_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608959_35608960insC	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1107dupC	9.37:g.35608965_35608965dupC	ENSP00000338127:p.Pro368fs					TESK1_ENST00000498522.1_3'UTR	p.SP367fs	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1351_1352	+			367					Q8IXZ8	Frame_Shift_Ins	INS	ENST00000336395.5	37	c.1101_1102insC	CCDS6580.1																																																																																				0.609	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		8	360						8	360	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs						p.V592fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		11	291						11	291	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5412)ttggggfs	p.LG1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.LG648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.LG1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.55																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5407-5409)tggfs		zinc finger protein 462																																				SO:0001589	frameshift_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691601_109691602insG	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5414dupG	9.37:g.109691607_109691607dupG	ENSP00000277225:p.Leu1803fs					ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs	p.W1803fs			Q96JM2	ZN462_HUMAN			3	5697_5698	+			1803					Q5T0T4|Q8N408	Frame_Shift_Ins	INS	ENST00000277225.5	37	c.5408_5409insG	CCDS35096.1																																																																																				0.550	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		9	281						9	281	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117838741	117838742	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:117838741_117838742insG	ENST00000350763.4	-	8	3198_3199	c.2787_2788insC	c.(2785-2790)cccatcfs	p.I930fs	TNC_ENST00000345230.3_Frame_Shift_Ins_p.I930fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.I930fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.I930fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.I930fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.I930fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.I930fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.I930fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.I930fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	930	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCCAGAGATGGGGGCATACT	0.51																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(2785-2790)cctctcfs		tenascin C																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117838741_117838742insG		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2788dupC	9.37:g.117838746_117838746dupG	ENSP00000265131:p.Ile930fs					TNC_ENST00000345230.3_Frame_Shift_Ins_p.L930fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.L930fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.L930fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.L930fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.L930fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.L930fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.L930fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.L930fs	p.L930fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			8	3198_3199	-			930			Fibronectin type-III 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.2787_2788insC	CCDS6811.1																																																																																				0.510	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		8	1378						8	1378	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)gccfs	p.A678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2032-2034)cccfs		pregnancy-associated plasma protein A, pappalysin 1																																				SO:0001589	frameshift_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982329_118982330insC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2038dupC	9.37:g.118982335_118982335dupC	ENSP00000330658:p.Ala678fs					PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			5	2401_2402	+			678					B1AMF9|Q08371|Q68G52|Q9UDK7	Frame_Shift_Ins	INS	ENST00000328252.3	37	c.2032_2033insC	CCDS6813.1																																																																																				0.574	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		18	506						18	506	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_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	177						8	177	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131750435	131750436	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:131750435_131750436insC	ENST00000372577.2	+	24	2524_2525	c.2503_2504insC	c.(2503-2505)tccfs	p.S835fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	835					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TAATGTGGTGTCCCCCCTGGAA	0.47																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2503-2505)cccfs		nucleoporin 188kDa																																				SO:0001589	frameshift_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131750435_131750436insC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2509dupC	9.37:g.131750441_131750441dupC	ENSP00000361658:p.Ser835fs						p.P835fs	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			24	2524_2525	+			835					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Ins	INS	ENST00000372577.2	37	c.2503_2504insC	CCDS35156.1																																																																																				0.470	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			7	655						7	655	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)gccfs	p.A1376fs	NUP214_ENST00000411637.2_Frame_Shift_Ins_p.A1366fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.A1377fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.A202fs|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(4126-4128)cccfs		nucleoporin 214kDa																																				SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073007_134073008insC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4133dupC	9.37:g.134073014_134073014dupC	ENSP00000352400:p.Ala1376fs					NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs	p.P1376fs			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4270_4271	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1376			11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Ins	INS	ENST00000359428.5	37	c.4126_4127insC	CCDS6940.1																																																																																				0.545	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	157						8	157	---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)ggtfs		zinc finger, MYND-type containing 19																																				SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481541_140481542insC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.237dupG	9.37:g.140481548_140481548dupC	ENSP00000298585:p.Gly79fs					ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462_463	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Ins	INS	ENST00000298585.2	37	c.236_237insG	CCDS7048.1																																																																																				0.634	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		7	157						7	157	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	858880	858881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:858880_858881insG	ENST00000316157.3	-	17	2242_2243	c.2202_2203insC	c.(2200-2205)cccaagfs	p.K735fs	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	735					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGAGGAGACTTGGGGGGAGTGC	0.678																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(2200-2205)ccagtcfs		La ribonucleoprotein domain family, member 4B																																				SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:858880_858881insG	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.2203dupC	10.37:g.858886_858886dupG	ENSP00000326128:p.Lys735fs						p.V735fs	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			17	2242_2243	-			735					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Ins	INS	ENST00000316157.3	37	c.2202_2203insC	CCDS31131.1																																																																																				0.678	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		8	237						8	237	---	---	---	---
NUDT5	11164	broad.mit.edu	37	10	12219814	12219815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:12219814_12219815insC	ENST00000491614.1	-	5	661_662	c.266_267insG	c.(265-267)ggcfs	p.G89fs	NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.G102fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.G89fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.G89fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.G89fs			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	89	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTATGCAGTAGCCCCCCATTGG	0.52																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(265-267)gtafs		nudix (nucleoside diphosphate linked moiety X)-type motif 5																																				SO:0001589	frameshift_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12219814_12219815insC	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.267dupG	10.37:g.12219820_12219820dupC	ENSP00000419628:p.Gly89fs					NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs	p.V89fs			Q9UKK9	NUDT5_HUMAN			5	661_662	-		Renal(717;0.228)	89			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Frame_Shift_Ins	INS	ENST00000491614.1	37	c.266_267insG	CCDS7089.1																																																																																				0.520	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			7	399						7	399	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs					PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs	p.G211fs			O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			12	514						12	514	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)ccafs	p.P314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.P255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.P174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(940-942)cgafs		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha																																				SO:0001589	frameshift_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830827_22830828insG	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.942dupC	10.37:g.22830834_22830834dupG	ENSP00000365757:p.Pro314fs					PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	p.R314fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			8	1169_1170	-			314			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Frame_Shift_Ins	INS	ENST00000376573.4	37	c.941_942insC	CCDS7141.1																																																																																				0.584	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		15	269						15	269	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-	rs140819336	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:24822125_24822127delGAA	ENST00000376454.3	+	16	3403_3405	c.3373_3375delGAA	c.(3373-3375)gaadel	p.E1129del	KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552														6	0.00119808	0.0008	0.0014	5008	,	,		21525	0.0		0.004	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2422-2424)del		KIAA1217			,,	28,4236		0,28,2104					,,	3.6	1.0		dbSNP_134	73	85,8169		0,85,4042	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	0,113,6146	A1A1,A1R,RR		1.0298,0.6567,0.9027	,,	,,		113,12405				SO:0001651	inframe_deletion	56243				embryonic skeletal system development	cytoplasm		g.chr10:24822125_24822127delGAA	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3373_3375delGAA	10.37:g.24822134_24822136delGAA	ENSP00000365637:p.Glu1129del					KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del	p.E812del			Q5T5P2	SKT_HUMAN			11	2682_2684	+			1129					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	c.2422_2424delGAA	CCDS31165.1																																																																																				0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	566						8	566	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52580311	52580311	+	Splice_Site	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:52580311delC	ENST00000373993.1	-	6	912		c.e6+1		A1CF_ENST00000374001.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000493415.1_Splice_Site|RP11-449O16.2_ENST00000438919.1_RNA			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCTACCTTACCTTGCCATTT	0.423																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.e10+1		APOBEC1 complementation factor							97.0	89.0	92.0					10																	52580311		2203	4300	6503	SO:0001630	splice_region_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52580311delC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.867+1G>-	10.37:g.52580311delC						A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000493415.1_Splice_Site		NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			10	1243	-								A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Splice_Site	DEL	ENST00000373993.1	37		CCDS7242.1																																																																																				0.423	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	Intron	11	80						11	80	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs						p.G233fs	NM_014431.2	NP_055246.2					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		13	733						13	733	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC						SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	47	989						47	989	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76790222	76790223	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:76790222_76790223insC	ENST00000287239.4	+	18	6129_6130	c.5640_5641insC	c.(5641-5643)cccfs	p.P1881fs	KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.P1589fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.P1698fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1881	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATGACCCCACCCCCCAACCT	0.535																																						ENST00000287239.4																			0											c.(5638-5643)ccccccfs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76790222_76790223insC	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5646dupC	10.37:g.76790228_76790228dupC	ENSP00000287239:p.Pro1881fs					KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.PP1697fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.PP1588fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.PP1588fs	p.PP1880fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	6129_6130	+			1880			Interaction with RUNX1 and RUNX2.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Ins	INS	ENST00000287239.4	37	c.5640_5641insC	CCDS7345.1																																																																																				0.535	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		10	724						10	724	---	---	---	---
FAM213A	84293	broad.mit.edu	37	10	82182206	82182206	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:82182206delA	ENST00000372181.1	+	2	682	c.212delA	c.(211-213)gaafs	p.E71fs	FAM213A_ENST00000372185.1_Frame_Shift_Del_p.E60fs|FAM213A_ENST00000372188.1_Frame_Shift_Del_p.E71fs|FAM213A_ENST00000372187.5_Frame_Shift_Del_p.E71fs	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	71	Thioredoxin fold. {ECO:0000250}.				oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GAGCTATGGGAAAAAAATGGA	0.488																																						ENST00000372181.1																			0											c.(211-213)gafs		family with sequence similarity 213, member A							100.0	112.0	108.0					10																	82182206		2203	4300	6503	SO:0001589	frameshift_variant	84293					extracellular region		g.chr10:82182206delA	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.212delA	10.37:g.82182206delA	ENSP00000361254:p.Glu71fs					FAM213A_ENST00000372187.5_Frame_Shift_Del_p.E71fs|FAM213A_ENST00000372188.1_Frame_Shift_Del_p.E71fs|FAM213A_ENST00000372185.1_Frame_Shift_Del_p.E60fs	p.E71fs	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN			2	682	+			71					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Frame_Shift_Del	DEL	ENST00000372181.1	37	c.212delA	CCDS7368.1																																																																																				0.488	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			8	254						8	254	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs					CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		8	746						8	746	---	---	---	---
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-609)ggccccfs	p.GP202fs	LGI1_ENST00000371413.3_Frame_Shift_Ins_p.GP202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.GP154fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421																																						ENST00000371418.4																			1	Insertion - Frameshift(1)	p.E205fs*9(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(604-606)gccfs		leucine-rich, glioma inactivated 1																																				SO:0001589	frameshift_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95552601_95552602insC	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.611dupC	10.37:g.95552607_95552607dupC	ENSP00000360472:p.Gly202fs					LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs|LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs	p.A202fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			6	865_866	+		Colorectal(252;0.124)	202			LRRCT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Frame_Shift_Ins	INS	ENST00000371418.4	37	c.605_606insC	CCDS7431.1																																																																																				0.421	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		7	452						7	452	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(754-756)gggfs	p.G252fs	ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.G220fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.G166fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.G134fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.G154fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.G252fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	252					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(751-756)gtggggfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99510176_99510177insG	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.759dupG	10.37:g.99510182_99510182dupG	ENSP00000377282:p.Gly252fs					ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs	p.VG251fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	7	957_958	+		Colorectal(252;0.0846)	251					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Ins	INS	ENST00000393677.4	37	c.753_754insG	CCDS31263.1																																																																																				0.599	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		9	326						9	326	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)cccgaafs	p.E317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.47																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(946-951)ccaagafs		carboxypeptidase N, polypeptide 1																																				SO:0001589	frameshift_variant	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816832_101816833insG	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.949dupC	10.37:g.101816838_101816838dupG	ENSP00000359446:p.Glu317fs						p.R317fs	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	6	1199_1200	-		Colorectal(252;0.234)	317			Catalytic.		B1AP59	Frame_Shift_Ins	INS	ENST00000370418.3	37	c.948_949insC	CCDS7486.1																																																																																				0.470	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		17	1067						17	1067	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234|rs77453353		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:102509528_102509529insG	ENST00000428433.1	+	2	619_620	c.69_70insG	c.(70-72)gggfs	p.G24fs	PAX2_ENST00000355243.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.G24fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.G23fs|PAX2_ENST00000370296.2_Frame_Shift_Ins_p.G24fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	24	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> E (probable disease-associated mutation found in a patient with renal hypodysplasia). {ECO:0000269|PubMed:21380624}.		aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(67-72)ctggggfs		paired box 2																																				SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102509528_102509529insG		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.76dupG	10.37:g.102509535_102509535dupG	ENSP00000396259:p.Gly24fs					PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs	p.LG23fs			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	2	619_620	+		Colorectal(252;0.234)	23			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Ins	INS	ENST00000428433.1	37	c.69_70insG	CCDS53569.1																																																																																				0.663	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	116						9	116	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs					BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		19	356						19	356	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103901076	103901077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:103901076_103901077insC	ENST00000278070.2	+	5	2850_2851	c.2811_2812insC	c.(2812-2814)cccfs	p.P938fs	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P938fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	938	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2809-2814)ctccccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901076_103901077insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2819dupC	10.37:g.103901084_103901084dupC	ENSP00000278070:p.Pro938fs					PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.LP937fs	p.LP937fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2850_2851	+		Colorectal(252;0.122)	937			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.2811_2812insC	CCDS7529.1																																																																																				0.604	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		8	56						8	56	---	---	---	---
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(589-591)cccfs	p.P197fs	RNU6-1121P_ENST00000516802.1_RNA	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(586-591)gtccccfs		TruB pseudouridine (psi) synthase family member 1																																				SO:0001589	frameshift_variant	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116730191_116730192insC	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.595dupC	10.37:g.116730198_116730198dupC	ENSP00000298746:p.Pro197fs						p.VP196fs	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	5	649_650	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	196					B2R716|Q53ES2	Frame_Shift_Ins	INS	ENST00000298746.3	37	c.588_589insC	CCDS7591.1																																																																																				0.317	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		8	133						8	133	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119014791	119014792	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:119014791_119014792insC	ENST00000298472.5	+	7	847_848	c.704_705insC	c.(703-708)ggccccfs	p.GP235fs	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTGCAGTGGGCCCCCCCTTCG	0.569																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(703-705)gccfs		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)																																			SO:0001589	frameshift_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119014791_119014792insC	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.711dupC	10.37:g.119014798_119014798dupC	ENSP00000298472:p.Gly235fs					SLC18A2_ENST00000497497.1_3'UTR	p.A235fs	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	7	847_848	+		Colorectal(252;0.19)	235					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Frame_Shift_Ins	INS	ENST00000298472.5	37	c.704_705insC	CCDS7599.1																																																																																				0.569	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		11	144						11	144	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114									long intergenic non-protein coding RNA 959																		CTTTGCCTCCAGGGGGGGAAGG	0.53																																						ENST00000456581.1																			0																																																			387723							g.chr10:131905959_131905960insG			10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489		"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding							Standard	NR_034125		Approved				OTTHUMG00000019268		10.37:g.131905966_131905966dupG														0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			15	400						15	400	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			101927708							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			10	31						10	31	---	---	---	---
ART5	116969	broad.mit.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:3660979_3660980insG	ENST00000397068.3	-	2	1071_1072	c.679_680insC	c.(679-681)catfs	p.H227fs	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Frame_Shift_Ins_p.H227fs|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	227					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.5																																						ENST00000397068.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(679-681)tgafs		ADP-ribosyltransferase 5			,	5,4259		0,5,2127					,	6.2	1.0			76	3,8251		0,3,4124	no	frameshift,frameshift	ART5	NM_053017.3,NM_001079536.1	,	0,8,6251	A1A1,A1R,RR		0.0363,0.1173,0.0639	,	,		8,12510				SO:0001589	frameshift_variant	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660979_3660980insG	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.680dupC	11.37:g.3660986_3660986dupG	ENSP00000380258:p.His227fs					ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Frame_Shift_Ins_p.*227fs	p.*227fs	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1071_1072	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	227					C9IYG7|Q6UX84|Q86W02	Frame_Shift_Ins	INS	ENST00000397068.3	37	c.679_680insC	CCDS7743.1																																																																																				0.500	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		7	165						7	165	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs					HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P147fs	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		9	816						9	816	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs					PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		9	139						9	139	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		33	1003						33	1003	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C	rs560166088		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)ggcfs	p.G1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(5503-5505)gctfs		low density lipoprotein receptor-related protein 4																																				SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46880747_46880748insC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5505dupG	11.37:g.46880754_46880754dupC	ENSP00000367888:p.Gly1835fs					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1835fs	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	38	5746_5747	-			1835					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Ins	INS	ENST00000378623.1	37	c.5504_5505insG	CCDS31478.1																																																																																				0.564	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		15	230						15	230	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47594882	47594883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:47594882_47594883insC	ENST00000526005.1	-	4	1309_1310	c.1156_1157insG	c.(1156-1158)gagfs	p.E386fs	KBTBD4_ENST00000533290.1_Frame_Shift_Ins_p.E411fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Frame_Shift_Ins_p.E386fs|KBTBD4_ENST00000430070.2_Frame_Shift_Ins_p.E402fs|PTPMT1_ENST00000527079.2_3'UTR			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	386								p.E386fs*4(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATCATTCTCCTCCCCCCCTAGT	0.515																																						ENST00000533290.1																			2	Insertion - Frameshift(2)	p.E386fs*4(2)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1231-1233)ggafs		kelch repeat and BTB (POZ) domain containing 4																																				SO:0001589	frameshift_variant	55709							g.chr11:47594882_47594883insC	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1157dupG	11.37:g.47594889_47594889dupC	ENSP00000433340:p.Glu386fs					KBTBD4_ENST00000395288.2_Frame_Shift_Ins_p.G386fs|KBTBD4_ENST00000526005.1_Frame_Shift_Ins_p.G386fs|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Frame_Shift_Ins_p.G402fs	p.G411fs			Q9NVX7	KBTB4_HUMAN			3	1945_1946	-			386					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Ins	INS	ENST00000526005.1	37	c.1231_1232insG	CCDS7940.1																																																																																				0.515	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		23	547						23	547	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs						p.IP250fs	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		13	731						13	731	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346881	48346882	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:48346881_48346882insT	ENST00000319856.4	+	1	410_411	c.389_390insT	c.(388-393)cattttfs	p.HF130fs		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTTGGAGCTCATTTTTTGGGAG	0.46																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(388-390)cttfs		olfactory receptor, family 4, subfamily C, member 3																																				SO:0001589	frameshift_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346881_48346882insT	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.395dupT	11.37:g.48346887_48346887dupT	ENSP00000321419:p.His130fs						p.L130fs	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	410_411	+			103					B2RNF2|Q6IFB3	Frame_Shift_Ins	INS	ENST00000319856.4	37	c.389_390insT	CCDS31489.1																																																																																				0.460	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		8	1396						8	1396	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57182148	57182149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57182148_57182149insG	ENST00000395123.2	-	11	1303_1304	c.999_1000insC	c.(997-1002)ccctggfs	p.W334fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.W347fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.W334fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.W334fs|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.W334fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	334					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGGCCATTCCAGGGGGCACACA	0.54																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(997-1002)ccggaafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57182148_57182149insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1000dupC	11.37:g.57182153_57182153dupG	ENSP00000378555:p.Trp334fs					SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.E334fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.E347fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.E334fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.E334fs	p.E334fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			11	1303_1304	-			334					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.999_1000insC	CCDS7956.1																																																																																				0.540	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		18	1954						18	1954	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs					SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		11	459						11	459	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs					TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	p.NP128fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		7	391						7	391	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.55																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)aggfs		olfactory receptor, family 4, subfamily D, member 11																																				SO:0001589	frameshift_variant	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271497_59271498insG	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.455dupG	11.37:g.59271503_59271503dupG	ENSP00000320077:p.Met150fs						p.R150fs	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	449_450	+			150						Frame_Shift_Ins	INS	ENST00000313253.1	37	c.449_450insG	CCDS31563.1																																																																																				0.550	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		7	670						7	670	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG						DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site		NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	11	264						11	264	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61536775	61536776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:61536775_61536776insC	ENST00000278836.5	+	4	538_539	c.442_443insC	c.(442-444)tccfs	p.S148fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.S139fs	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	148	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGAGGCCTACTCCCCCCAGCAG	0.678																																						ENST00000278836.5																			0											c.(442-444)cccfs		myelin regulatory factor																																				SO:0001589	frameshift_variant	745							g.chr11:61536775_61536776insC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.448dupC	11.37:g.61536781_61536781dupC	ENSP00000278836:p.Ser148fs					MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P139fs|TMEM258_ENST00000535042.1_Intron	p.P148fs	NM_001127392.1	NP_001120864.1					4	538_539	+								O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	c.442_443insC	CCDS44622.1																																																																																				0.678	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		4	6						4	6	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559																																						ENST00000433053.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12	GRCh37	CI033285	BSCL2	I		c.(973-975)gatfs		Berardinelli-Seip congenital lipodystrophy 2 (seipin)			,,	12,4252		0,12,2120					,,	3.3	0.9			68	10,8244		0,10,4117	no	frameshift,intron,frameshift	BSCL2	NM_032667.6,NM_001130702.2,NM_001122955.3	,,	0,22,6237	A1A1,A1R,RR		0.1212,0.2814,0.1757	,,	,,		22,12496				SO:0001589	frameshift_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458782_62458783insC		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.783dupG	11.37:g.62458789_62458789dupC	ENSP00000385561:p.Gly261fs					BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR	p.D325fs			Q96G97	BSCL2_HUMAN			8	1530_1531	-			261					G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Frame_Shift_Ins	INS	ENST00000403550.1	37	c.974_975insG	CCDS8031.1																																																																																				0.559	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		14	352						14	352	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1459-1461)cacfs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65422045_65422046insG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1460dupC	11.37:g.65422051_65422051dupG	ENSP00000384273:p.His487fs					RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs|RELA_ENST00000525693.1_3'UTR	p.H487fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1720_1721	-			487					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1459_1460insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	295						7	295	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.R131fs|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624																																						ENST00000376901.4																			1	Substitution - Missense(1)	p.R131L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)gcafs		Yip1 interacting factor homolog A (S. cerevisiae)				18,4246		0,18,2114						4.8	1.0			29	10,8242		0,10,4116	no	frameshift	YIF1A	NM_020470.2		0,28,6230	A1A1,A1R,RR		0.1212,0.4221,0.2237				28,12488				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055104_66055105insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.392dupC	11.37:g.66055111_66055111dupG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs|YIF1A_ENST00000471387.2_5'UTR	p.A131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575_576	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.391_392insC	CCDS8132.1																																																																																				0.624	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		9	74						9	74	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	651					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(2005-2010)gcccccfs		dipeptidyl-peptidase 3																																				SO:0001589	frameshift_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66272154_66272155insC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1956dupC	11.37:g.66272160_66272160dupC	ENSP00000353701:p.Pro651fs					DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	p.AP669fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			17	2408_2409	+			650					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	ENST00000360510.2	37	c.2007_2008insC	CCDS8141.1																																																																																				0.579	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			11	316						11	316	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-282)ctggggfs	p.LG93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.LG74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(277-279)cggfs		copper chaperone for superoxide dismutase																																				SO:0001589	frameshift_variant	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66366957_66366958insG	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.285dupG	11.37:g.66366964_66366964dupG	ENSP00000436318:p.Leu93fs					CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	719_720	+			93			Superoxide dismutase-like.		Q2M366|Q8NEV0	Frame_Shift_Ins	INS	ENST00000533244.1	37	c.278_279insG	CCDS8146.1																																																																																				0.644	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		9	131						9	131	---	---	---	---
NDUFV1	4723	broad.mit.edu	37	11	67379629	67379630	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:67379629_67379630insG	ENST00000322776.6	+	9	1354_1355	c.1201_1202insG	c.(1201-1203)aggfs	p.R401fs	NDUFV1_ENST00000532303.1_Frame_Shift_Ins_p.R300fs|NDUFV1_ENST00000415352.2_Frame_Shift_Ins_p.R394fs|DOC2GP_ENST00000495263.1_RNA|NDUFV1_ENST00000529927.1_Frame_Shift_Ins_p.R392fs	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	401					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						ACGTTTCGTGAGGGGGGATGCC	0.629																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.(1201-1203)gggfs		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67379629_67379630insG	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7716	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"""	161015	"""NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"""			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.1207dupG	11.37:g.67379635_67379635dupG	ENSP00000322450:p.Arg401fs					NDUFV1_ENST00000415352.2_Frame_Shift_Ins_p.G394fs|NDUFV1_ENST00000532303.1_Frame_Shift_Ins_p.G300fs|NDUFV1_ENST00000529927.1_Frame_Shift_Ins_p.G392fs	p.G401fs	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			9	1354_1355	+			401					O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Frame_Shift_Ins	INS	ENST00000322776.6	37	c.1201_1202insG	CCDS8173.1																																																																																				0.629	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103		7	373						7	373	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs					NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			3	356_357	-			9						Frame_Shift_Ins	INS	ENST00000393695.3	37	c.25_26insG	CCDS31633.1																																																																																				0.505	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	408						9	408	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76370771	76370772	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76370771_76370772insC	ENST00000407242.2	-	3	2107_2108	c.1865_1866insG	c.(1864-1866)ggafs	p.G622fs	LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.G622fs|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.G622fs|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	622					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTTCTTCAGTCCCCCCTTCTC	0.619																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1864-1866)gctfs		leucine rich repeat containing 32																																				SO:0001589	frameshift_variant	2615					integral to plasma membrane		g.chr11:76370771_76370772insC	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1866dupG	11.37:g.76370777_76370777dupC	ENSP00000384126:p.Gly622fs					AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.A622fs|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.A622fs|LRRC32_ENST00000464145.1_Intron	p.A622fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	2107_2108	-			622					Q86V06	Frame_Shift_Ins	INS	ENST00000407242.2	37	c.1865_1866insG	CCDS8245.1																																																																																				0.619	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		7	557						7	557	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1620)atccccfs	p.IP539fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564																																						ENST00000409709.3																			1	Deletion - Frameshift(1)	p.K542fs*80(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1615-1617)accfs		myosin VIIA																																				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873960_76873961insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1623dupC	11.37:g.76873967_76873967dupC	ENSP00000386331:p.Ile539fs					MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs	p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			14	1888_1889	+			539			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.1616_1617insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		31	502						31	502	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		10	230						10	230	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424222	89424223	+	RNA	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:89424222_89424223insT	ENST00000532352.1	+	0	1685_1686							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GATTGTCGAGATTATGCTGTAG	0.376																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424222_89424223insT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424224_89424224dupT										Q9HBA9	FOH1B_HUMAN			0	1685_1686	+									RNA	INS	ENST00000532352.1	37																																																																																						0.376	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		51	100						51	100	---	---	---	---
LAYN	143903	broad.mit.edu	37	11	111428362	111428363	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:111428362_111428363insA	ENST00000375615.3	+	7	964_965	c.779_780insA	c.(778-783)agaaaafs	p.RK260fs	LAYN_ENST00000375614.2_Frame_Shift_Ins_p.RK252fs|LAYN_ENST00000525126.1_Frame_Shift_Ins_p.RK260fs|LAYN_ENST00000533265.1_Frame_Shift_Ins_p.RK252fs|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_Frame_Shift_Ins_p.RK107fs	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	260						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	TGGATCTGTAGAAAAAGGCAAG	0.441																																					Ovarian(17;551 586 12136 22082 22900)	ENST00000436913.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14						c.(319-321)aaafs		layilin																																				SO:0001589	frameshift_variant	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111428362_111428363insA		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.784dupA	11.37:g.111428367_111428367dupA	ENSP00000364765:p.Arg260fs					LAYN_ENST00000375615.3_Frame_Shift_Ins_p.K260fs|LAYN_ENST00000533265.1_Frame_Shift_Ins_p.K252fs|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Frame_Shift_Ins_p.K260fs|LAYN_ENST00000375614.2_Frame_Shift_Ins_p.K252fs	p.K107fs	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	5	721_722	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	260			C-type lectin.		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Frame_Shift_Ins	INS	ENST00000375615.3	37	c.320_321insA	CCDS58178.1																																																																																				0.441	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		9	2603						9	2603	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs					NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		15	841						15	841	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1990-1995)ggagatfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs					SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs	p.D665fs			Q9Y2K2	SIK3_HUMAN			16	1997_1998	-			607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1992_1993insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		11	504						11	504	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|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)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	108	1138						108	1138	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs					CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		9	268						9	268	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs						p.P23fs	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		10	821						10	821	---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(739-741)gggfs	p.G247fs	JAM3_ENST00000441717.3_Frame_Shift_Ins_p.G196fs|NCAPD3_ENST00000526787.2_5'Flank|JAM3_ENST00000529443.2_Frame_Shift_Ins_p.G292fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	247					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485																																						ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(736-741)atggggfs		junctional adhesion molecule 3																																				SO:0001589	frameshift_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134018467_134018468insG	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.745dupG	11.37:g.134018474_134018474dupG	ENSP00000299106:p.Gly247fs					JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs	p.MG246fs			Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	7	897_898	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	246					B3KWG9|Q8WWL8|Q96FL1	Frame_Shift_Ins	INS	ENST00000299106.4	37	c.738_739insG	CCDS8494.2																																																																																				0.485	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		15	419						15	419	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)ggtfs		non-SMC condensin II complex, subunit D3																																				SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048585_134048586insG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2726dupC	11.37:g.134048592_134048592dupG	ENSP00000433681:p.Gln909fs						p.G909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789_2790	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Ins	INS	ENST00000534548.2	37	c.2725_2726insC	CCDS31723.1																																																																																				0.525	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		10	176						10	176	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3701465	3701466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:3701465_3701466insG	ENST00000382622.3	+	9	1438_1439	c.1048_1049insG	c.(1048-1050)aggfs	p.R350fs	PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.R341fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	350	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CACTGTCCGGAGGGGGGAGGAA	0.55																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1048-1050)gggfs		protein arginine methyltransferase 8																																				SO:0001589	frameshift_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701465_3701466insG	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1054dupG	12.37:g.3701471_3701471dupG	ENSP00000372067:p.Arg350fs					PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.G341fs|PRMT8_ENST00000261252.4_3'UTR	p.G350fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1438_1439	+			350					B2RDP0|Q8TBJ8	Frame_Shift_Ins	INS	ENST00000382622.3	37	c.1048_1049insG	CCDS8521.2																																																																																				0.550	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		8	487						8	487	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs						p.P2377fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	663						7	663	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs						p.R812fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		13	408						13	408	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6161796	6161797	+	Frame_Shift_Ins	INS	-	-	C	rs377672051		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6161796_6161797insC	ENST00000261405.5	-	16	2352_2353	c.2098_2099insG	c.(2098-2100)gacfs	p.D700fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	700	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCACGCAGTCCCCCCTCTCA	0.589																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2098-2100)ctgfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161796_6161797insC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2099dupG	12.37:g.6161802_6161802dupC	ENSP00000261405:p.Asp700fs						p.L700fs	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			16	2352_2353	-			700			TIL 2.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2098_2099insG	CCDS8539.1																																																																																				0.589	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		7	478						7	478	---	---	---	---
CD4	920	broad.mit.edu	37	12	6923985	6923986	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6923985_6923986insC	ENST00000011653.4	+	5	692_693	c.434_435insC	c.(433-438)agccccfs	p.SP145fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.SP90fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	ACCTTGGAGAGCCCCCCTGGTA	0.579																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(433-435)accfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923985_6923986insC	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.440dupC	12.37:g.6923991_6923991dupC	ENSP00000011653:p.Ser145fs					CD4_ENST00000541982.1_Frame_Shift_Ins_p.T90fs|CD4_ENST00000538827.1_3'UTR	p.T145fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	692_693	+		Myeloproliferative disorder(1001;0.0122)	145			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.434_435insC	CCDS8562.1																																																																																				0.579	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	1120						7	1120	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAAACATACAGGGGGGGAAGA	0.564																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(490-492)cggfs		CD4 molecule																																				SO:0001589	frameshift_variant	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6924042_6924043insG	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.498dupG	12.37:g.6924049_6924049dupG	ENSP00000011653:p.Gln164fs					CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	p.R164fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			5	749_750	+		Myeloproliferative disorder(1001;0.0122)	164			Ig-like C2-type 1.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.491_492insG	CCDS8562.1																																																																																				0.564	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		24	627						24	627	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-477)tgccccfs	p.CP158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.CP158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.CP158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(472-474)tccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171652_7171653insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.479dupC	12.37:g.7171658_7171658dupC	ENSP00000385035:p.Cys158fs					C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR	p.S158fs			P09871	C1S_HUMAN			8	1101_1102	+			158			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.473_474insC	CCDS31735.1																																																																																				0.455	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	645						8	645	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)accfs	p.T684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.T517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.T684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.T684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.49																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2050-2052)cccfs		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177938_7177939insC		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2056dupC	12.37:g.7177944_7177944dupC	ENSP00000385035:p.Thr684fs					C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs	p.P684fs			P09871	C1S_HUMAN			15	2678_2679	+			684					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Frame_Shift_Ins	INS	ENST00000406697.1	37	c.2050_2051insC	CCDS31735.1																																																																																				0.490	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		7	478						7	478	---	---	---	---
TAS2R43	259289	broad.mit.edu	37	12	11243945	11243946	+	Frame_Shift_Ins	INS	-	-	A	rs572935032	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:11243945_11243946insA	ENST00000531678.1	-	1	966_967	c.883_884insT	c.(883-885)tggfs	p.W295fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	295					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCTCATTTGCCAAAAAACTGAA	0.416																																						ENST00000531678.1																			0				endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5						c.(883-885)gcafs		taste receptor, type 2, member 43																																				SO:0001589	frameshift_variant	259289				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	g.chr12:11243945_11243946insA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.884dupT	12.37:g.11243951_11243951dupA	ENSP00000431719:p.Trp295fs					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.A295fs	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	966_967	-			295					P59546|Q645X4	Frame_Shift_Ins	INS	ENST00000531678.1	37	c.883_884insT	CCDS53749.1																																																																																				0.416	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		8	508						8	508	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:13142224_13142225insC	ENST00000014930.4	-	2	361_362	c.203_204insG	c.(202-204)ggcfs	p.G68fs	HEBP1_ENST00000536942.1_Frame_Shift_Ins_p.G68fs	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554																																						ENST00000536942.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(202-204)gacfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13142224_13142225insC	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.204dupG	12.37:g.13142230_13142230dupC	ENSP00000014930:p.Gly68fs					HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	353_354	-		Prostate(47;0.183)	68					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.203_204insG	CCDS31749.1																																																																																				0.554	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			18	1072						18	1072	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:14019043_14019044insG	ENST00000609686.1	-	2	308_309	c.99_100insC	c.(97-102)cccagcfs	p.S34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGCCAATGCTGGGGGGGCTCT	0.589																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(97-102)ccgcatfs		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)																																			SO:0001589	frameshift_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019043_14019044insG		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.100dupC	12.37:g.14019050_14019050dupG	ENSP00000477455:p.Ser34fs						p.H34fs	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	308_309	-			34					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.99_100insC	CCDS8662.1																																																																																				0.589	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	245						11	245	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)gatfs	p.D374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACTGTCAACATCCCCCCAGTCA	0.47																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1120-1122)tgtfs		guanylate cyclase 2C (heat stable enterotoxin receptor)																																				SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14825856_14825857insC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1121dupG	12.37:g.14825862_14825862dupC	ENSP00000261170:p.Asp374fs					RP11-174G6.1_ENST00000501178.2_RNA	p.C374fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			9	1256_1257	-			374					B2RMY6	Frame_Shift_Ins	INS	ENST00000261170.3	37	c.1120_1121insG	CCDS8664.1																																																																																				0.470	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			10	595						10	595	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(106-111)ccacttfs		achalasia, adrenocortical insufficiency, alacrimia																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs					AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	p.L37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			1	273_274	-			37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			10	349						10	349	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G	rs374370282|rs369599312		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R265W(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579																																						ENST00000257863.4																			1	Substitution - Missense(1)	p.R265W(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(793-795)gggfs		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819644_53819645insG	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.800dupG	12.37:g.53819651_53819651dupG	ENSP00000257863:p.Arg265fs					AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			6	873_874	+			265			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Frame_Shift_Ins	INS	ENST00000257863.4	37	c.793_794insG	CCDS8858.1																																																																																				0.579	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		7	129						7	129	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs						p.P302fs	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			14	2479						14	2479	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56222209_56222210insG	ENST00000357606.3	-	3	522_523	c.233_234insC	c.(232-234)ccafs	p.P78fs	TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.P78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.P78fs			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	78					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTGGACCCCCTGGGGGGCCATG	0.559																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(232-234)cggfs		DnaJ (Hsp40) homolog, subfamily C, member 14																																				SO:0001589	frameshift_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56222209_56222210insG	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.234dupC	12.37:g.56222215_56222215dupG	ENSP00000350223:p.Pro78fs					DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs	p.R78fs			Q6Y2X3	DJC14_HUMAN			3	522_523	-			78					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Frame_Shift_Ins	INS	ENST00000357606.3	37	c.233_234insC	CCDS8894.1																																																																																				0.559	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		7	406						7	406	---	---	---	---
CDK2	1017	broad.mit.edu	37	12	56363264	56363265	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56363264_56363265delGA	ENST00000266970.4	+	5	732_733	c.492_493delGA	c.(490-495)gtgaccfs	p.T165fs	CDK2_ENST00000354056.4_Intron|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000539511.1_5'Flank|CDK2_ENST00000553376.1_Frame_Shift_Del_p.T165fs|CDK2_ENST00000440311.2_Intron|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548747.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CTCAGGTGGTGACCCTGTGGTA	0.535																																						ENST00000266970.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(490-495)gtccfs		cyclin-dependent kinase 2																																				SO:0001589	frameshift_variant	1017				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	g.chr12:56363264_56363265delGA	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.492_493delGA	12.37:g.56363264_56363265delGA	ENSP00000266970:p.Thr165fs					CDK2_ENST00000553376.1_Frame_Shift_Del_p.VT164fs|CDK2_ENST00000354056.4_Intron|CDK2_ENST00000440311.2_Intron|CDK2_ENST00000556656.1_3'UTR	p.VT164fs	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		5	732_733	+			164			Protein kinase.		A8K7C6|O75100	Frame_Shift_Del	DEL	ENST00000266970.4	37	c.492_493delGA	CCDS8898.1																																																																																				0.535	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			36	173						36	173	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs	p.G579fs			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		17	973						17	973	---	---	---	---
PA2G4	5036	broad.mit.edu	37	12	56505301	56505302	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56505301_56505302insA	ENST00000303305.6	+	12	1526_1527	c.1107_1108insA	c.(1108-1110)aaafs	p.K370fs	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	370	Interaction with RNA. {ECO:0000250}.|Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAGAAAAAGAAAAAAAAGAA	0.386																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(1105-1110)aaaaaafs		proliferation-associated 2G4, 38kDa																																				SO:0001589	frameshift_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505301_56505302insA	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1115dupA	12.37:g.56505309_56505309dupA	ENSP00000302886:p.Lys370fs					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	p.KK369fs	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		12	1526_1527	+			369			Interaction with RNA (By similarity).|Necessary for nucleolar localization.		O43846|Q9UM59	Frame_Shift_Ins	INS	ENST00000303305.6	37	c.1107_1108insA	CCDS8902.1																																																																																				0.386	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		7	450						7	450	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G	rs528782426		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56558259_56558260insG	ENST00000267064.4	-	27	3481_3482	c.3395_3396insC	c.(3394-3396)ccafs	p.P1132fs	SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1163fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3487-3489)cccfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558259_56558260insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3396dupC	12.37:g.56558265_56558265dupG	ENSP00000267064:p.Pro1132fs					SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	p.P1163fs			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3502_3503	-			1132			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3488_3489insC	CCDS8907.1																																																																																				0.614	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			8	673						8	673	---	---	---	---
COQ10A	93058	broad.mit.edu	37	12	56662853	56662853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56662853delC	ENST00000308197.5	+	3	553	c.292delC	c.(292-294)cagfs	p.Q98fs	COQ10A_ENST00000433805.2_Frame_Shift_Del_p.Q66fs|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.Q81fs	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	98						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTACTCAATGCAGGAGATGTA	0.507																																						ENST00000308197.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(292-294)agfs		coenzyme Q10 homolog A (S. cerevisiae)							152.0	146.0	148.0					12																	56662853		2003	4198	6201	SO:0001589	frameshift_variant	93058					mitochondrial inner membrane		g.chr12:56662853delC	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.292delC	12.37:g.56662853delC	ENSP00000312587:p.Gln98fs					RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.Q81fs|COQ10A_ENST00000433805.2_Frame_Shift_Del_p.Q66fs	p.Q98fs	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN			3	553	+			98					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Frame_Shift_Del	DEL	ENST00000308197.5	37	c.292delC	CCDS41796.1																																																																																				0.507	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		23	471						23	471	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cctfs	p.P689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2065-2067)cgafs		zinc finger and BTB domain containing 39																																				SO:0001589	frameshift_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396635_57396636insG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2067dupC	12.37:g.57396641_57396641dupG	ENSP00000300101:p.Pro689fs						p.R689fs	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	2151_2152	-			689		P -> A (in dbSNP:rs3741576).			A7MD38|Q9UD98	Frame_Shift_Ins	INS	ENST00000300101.2	37	c.2066_2067insC	CCDS31839.1																																																																																				0.569	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		7	637						7	637	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aagfs	p.K1033fs	MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.K871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.K1033fs|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559																																						ENST00000442789.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(3097-3099)aggfs		myosin IA																																				SO:0001589	frameshift_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57422572_57422573insT	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3099dupA	12.37:g.57422580_57422580dupT	ENSP00000393392:p.Lys1033fs					TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			29	3385_3386	-			1033					Q9UQD7	Frame_Shift_Ins	INS	ENST00000442789.2	37	c.3098_3099insA	CCDS8929.1																																																																																				0.559	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		8	584						8	584	---	---	---	---
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)cagfs	p.Q281fs	STAT6_ENST00000556155.1_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.Q281fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.Q171fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.Q281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(841-843)ggtfs		signal transducer and activator of transcription 6, interleukin-4 induced																																				SO:0001589	frameshift_variant	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499093_57499094insG	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.842dupC	12.37:g.57499100_57499100dupG	ENSP00000300134:p.Gln281fs					STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs	p.G281fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1166_1167	-			281					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Ins	INS	ENST00000300134.3	37	c.841_842insC	CCDS8931.1																																																																																				0.639	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		7	159						7	159	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs						p.*G1487fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	275						19	275	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>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_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_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		12	459						12	459	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000551400.1_5'Flank	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs					DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		7	209						7	209	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58006824	58006825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:58006824_58006825insC	ENST00000286494.4	+	2	669_670	c.209_210insC	c.(208-213)ggccccfs	p.GP70fs	ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.GP109fs|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	70						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTTCCCCAGGCCCCCCAGGGC	0.619																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(208-210)gccfs		Rho guanine nucleotide exchange factor (GEF) 25																																				SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58006824_58006825insC		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.215dupC	12.37:g.58006830_58006830dupC	ENSP00000286494:p.Gly70fs					ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.A109fs|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	p.A70fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			2	669_670	+			70					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	ENST00000286494.4	37	c.209_210insC	CCDS8947.1																																																																																				0.619	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		13	1042						13	1042	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58174036	58174037	+	Splice_Site	INS	-	-	G	rs143311691|rs374056986	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:58174036_58174037insG	ENST00000300209.8	+	3	414		c.e3-1		METTL21B_ENST00000548256.1_Splice_Site|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000333012.5_Splice_Site|TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000548851.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000543727.1_5'Flank|METTL21B_ENST00000551420.1_Splice_Site|TSFM_ENST00000454289.3_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCTCTCTCTCAGGGGGGGATGT	0.584																																						ENST00000333012.5																			0				endometrium(1)|lung(1)	2						c.e4-1		methyltransferase like 21B																																				SO:0001630	splice_region_variant	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174036_58174037insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.290-1->G	12.37:g.58174043_58174043dupG						METTL21B_ENST00000551420.1_Splice_Site|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000300209.8_Splice_Site|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000548256.1_Splice_Site		NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN			4	475	+								Q9H749|Q9Y3W2	Splice_Site	INS	ENST00000300209.8	37		CCDS8957.1																																																																																				0.584	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	Intron	8	431						8	431	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs					MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000544561.1_Intron	p.NP318fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1256_1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		312			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Ins	INS	ENST00000350057.5	37	c.954_955insC																																																																																					0.426	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		11	404						11	404	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69965989	69965989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:69965989delT	ENST00000550389.1	+	6	750	c.504delT	c.(502-504)cctfs	p.P168fs	FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000299293.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	168					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGACATCCTTCTGTGGGAA	0.478																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(502-504)ccfs		fibroblast growth factor receptor substrate 2							130.0	124.0	126.0					12																	69965989		1979	4158	6137	SO:0001589	frameshift_variant	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69965989delT	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.504delT	12.37:g.69965989delT	ENSP00000447241:p.Pro168fs					FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000550389.1_Frame_Shift_Del_p.P168fs|FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs	p.P168fs	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	1014	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		168					B0LPF2|B2R684|O43558|Q7LDQ6	Frame_Shift_Del	DEL	ENST00000550389.1	37	c.504delT	CCDS41809.1																																																																																				0.478	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		89	328						89	328	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs					BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	p.PG444fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		10	427						10	427	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695959	103695960	+	Frame_Shift_Ins	INS	-	-	G	rs182234129|rs185386009		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:103695959_103695960insG	ENST00000378113.2	-	6	1234_1235	c.1009_1010insC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Frame_Shift_Ins_p.R270fs|C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.R337fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCGGGTTGGGCGGGGGGGTGCT	0.584																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(808-810)cccfs		chromosome 12 open reading frame 42																																				SO:0001589	frameshift_variant	374470							g.chr12:103695959_103695960insG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1010dupC	12.37:g.103695966_103695966dupG	ENSP00000367353:p.Arg337fs					C12orf42_ENST00000548883.1_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000378113.2_Frame_Shift_Ins_p.P337fs|C12orf42_ENST00000315192.8_Intron	p.P270fs			Q96LP6	CL042_HUMAN			9	1304_1305	-			337					Q49A64|Q4G0S2	Frame_Shift_Ins	INS	ENST00000378113.2	37	c.808_809insC	CCDS44963.1																																																																																				0.584	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		12	330						12	330	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(328-330)cccfs	p.P110fs	RNA5SP372_ENST00000390836.1_RNA|USP30_ENST00000392784.2_Frame_Shift_Ins_p.P79fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	110	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(325-330)gaccccfs		ubiquitin specific peptidase 30																																				SO:0001589	frameshift_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109495864_109495865insC	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.333dupC	12.37:g.109495870_109495870dupC	ENSP00000257548:p.Pro110fs					USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	p.DP109fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			3	420_421	+			109					Q8WTU7|Q96JX4|Q9BSS3	Frame_Shift_Ins	INS	ENST00000257548.5	37	c.327_328insC	CCDS9123.2																																																																																				0.485	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		7	789						7	789	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109939222	109939223	+	Frame_Shift_Ins	INS	-	-	G	rs368887776		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:109939222_109939223insG	ENST00000342494.3	+	13	1760_1761	c.1165_1166insG	c.(1165-1167)tggfs	p.W389fs	UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.W389fs|UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.W389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	389					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCAGTTCTTGTGGGGGGTGCCT	0.554																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1165-1167)gggfs		ubiquitin protein ligase E3B																																				SO:0001589	frameshift_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109939222_109939223insG	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1171dupG	12.37:g.109939228_109939228dupG	ENSP00000340596:p.Trp389fs					UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs	p.G389fs	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			13	1760_1761	+			389					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Ins	INS	ENST00000342494.3	37	c.1165_1166insG	CCDS9129.1																																																																																				0.554	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		15	1150						15	1150	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G	rs528866197	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:112690348_112690349insG	ENST00000430131.2	-	22	3310_3311	c.2165_2166insC	c.(2164-2166)cctfs	p.P722fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P972fs|HECTD4_ENST00000550722.1_Intron			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	722					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AATTTAAGGAAGGGGGGGAAAT	0.396													?|GGGGGGG|GGGGGGGG|unsure	10	0.00199681	0.0076	0.0	5008	,	,		19795	0.0		0.0	False		,,,				2504	0.0					ENST00000377560.5																			0											c.(2914-2916)ctcfs		HECT domain containing E3 ubiquitin protein ligase 4				25,4239		0,25,2107						3.9	0.9			67	4,8250		0,4,4123	no	frameshift	C12orf51	NM_001109662.2		0,29,6230	A1A1,A1R,RR		0.0485,0.5863,0.2317				29,12489				SO:0001589	frameshift_variant	283450							g.chr12:112690348_112690349insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2166dupC	12.37:g.112690355_112690355dupG	ENSP00000404379:p.Pro722fs					HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs	p.L972fs							22	3310_3311	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.2915_2916insC																																																																																					0.396	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	506						8	506	---	---	---	---
PRKAB1	5564	broad.mit.edu	37	12	120110200	120110201	+	Frame_Shift_Ins	INS	-	-	G	rs115821895	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:120110200_120110201insG	ENST00000229328.5	+	2	746_747	c.254_255insG	c.(253-258)acggggfs	p.TG85fs	PRKAB1_ENST00000541640.1_Frame_Shift_Ins_p.TG85fs|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	85	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGAA	0.52																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(253-255)aggfs		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)																																			SO:0001589	frameshift_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120110200_120110201insG	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.260dupG	12.37:g.120110206_120110206dupG	ENSP00000229328:p.Thr85fs					PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Frame_Shift_Ins_p.R85fs	p.R85fs	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	2	746_747	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		85					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Frame_Shift_Ins	INS	ENST00000229328.5	37	c.254_255insG	CCDS9191.1																																																																																				0.520	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		7	500						7	500	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)gggctgfs	p.L116fs	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(343-348)ggtgtcfs		musashi RNA-binding protein 1																																				SO:0001589	frameshift_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120800902_120800903insC	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.346dupG	12.37:g.120800909_120800909dupC	ENSP00000257552:p.Leu116fs						p.V116fs	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			6	433_434	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		116			RRM 2.		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Frame_Shift_Ins	INS	ENST00000257552.2	37	c.345_346insG	CCDS9196.1																																																																																				0.564	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		24	512						24	512	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs					POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		14	474						14	474	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs529562240|rs141115887	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:133277869_133277870insG	ENST00000317479.3	+	4	498_499	c.433_434insG	c.(433-435)aggfs	p.R145fs	PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.R52fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000545677.1_Frame_Shift_Ins_p.EG16fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	23	0.00459265	0.0	0.0029	5008	,	,		16275	0.0		0.004	False		,,,				2504	0.0174					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(46-48)gggfs		peroxisomal membrane protein 2, 22kDa				4,4258		0,4,2127						2.8	0.0			75	23,8231		0,23,4104	no	frameshift	PXMP2	NM_018663.1		0,27,6231	A1A1,A1R,RR		0.2787,0.0939,0.2157				27,12489				SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277869_133277870insG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.440dupG	12.37:g.133277876_133277876dupG	ENSP00000321271:p.Arg145fs					PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000543589.1_Intron	p.G16fs			Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	250_251	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Ins	INS	ENST00000317479.3	37	c.47_48insG	CCDS9279.1																																																																																				0.614	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		10	330						10	330	---	---	---	---
ALG11	440138	broad.mit.edu	37	13	52602503	52602504	+	Frame_Shift_Ins	INS	-	-	G	rs201526759		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:52602503_52602504insG	ENST00000521508.1	+	4	1261_1262	c.1256_1257insG	c.(1255-1260)tcggggfs	p.SG419fs	ALG11_ENST00000523764.1_Frame_Shift_Ins_p.G32fs|ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)	p.S419S(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCACACAATTCGGGGGGCCCAA	0.426																																						ENST00000521508.1																			1	Substitution - coding silent(1)	p.S419S(1)	lung(1)	endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13						c.(1255-1257)tggfs		ALG11, alpha-1,2-mannosyltransferase																																				SO:0001589	frameshift_variant	440138							g.chr13:52602503_52602504insG	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.1262dupG	13.37:g.52602509_52602509dupG	ENSP00000430236:p.Ser419fs					UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Frame_Shift_Ins_p.LG31fs	p.W419fs	NM_001004127.2	NP_001004127.2				GBM - Glioblastoma multiforme(99;2.44e-08)	4	1261_1262	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Ins	INS	ENST00000521508.1	37	c.1256_1257insG	CCDS31977.1																																																																																				0.426	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045050.1	NM_001004127		8	339						8	339	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	39					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(112-117)caccccfs		muscleblind-like splicing regulator 2																																				SO:0001589	frameshift_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928603_97928604insC	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.120dupC	13.37:g.97928609_97928609dupC	ENSP00000365861:p.Pro39fs					MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	895_896	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		38					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37	c.114_115insC																																																																																					0.411	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		8	396						8	396	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20846337	20846338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:20846337_20846338insC	ENST00000262715.5	-	39	5606_5607	c.5566_5567insG	c.(5566-5568)gttfs	p.V1856fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.V1748fs|TEP1_ENST00000545983.1_Frame_Shift_Ins_p.V194fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1856					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGGC	0.624																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(5566-5568)tgtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20846337_20846338insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5567dupG	14.37:g.20846344_20846344dupC	ENSP00000262715:p.Val1856fs					TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs	p.C1856fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	39	5606_5607	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1856					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.5566_5567insG	CCDS9548.1																																																																																				0.624	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		9	140						9	140	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)ggtfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852646_20852647insC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3243dupG	14.37:g.20852653_20852653dupC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282_3283	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.3242_3243insG	CCDS9548.1																																																																																				0.584	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		16	350						16	350	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)cccaagfs	p.K1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.48																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(3124-3129)ccagaafs		suppressor of Ty 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21820849_21820850insG	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3127dupC	14.37:g.21820855_21820855dupG	ENSP00000216297:p.Lys1043fs						p.E1043fs	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	26	3464_3465	-	all_cancers(95;0.00115)		1043					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Ins	INS	ENST00000216297.2	37	c.3126_3127insC	CCDS9569.1																																																																																				0.480	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			10	403						10	403	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719). {ECO:0000269|PubMed:10490026, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18220336, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.5																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1339-1341)ggtfs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549377_23549378insG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1341dupC	14.37:g.23549378_23549378dupG	ENSP00000262710:p.Ala447fs					ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs	p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1667_1668	-	all_cancers(95;1.36e-05)		447		A -> P (in dbSNP:rs941719).			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Ins	INS	ENST00000262710.1	37	c.1340_1341insC	CCDS9587.1																																																																																				0.500	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	236						7	236	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)ctgfs	p.L255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.49																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(763-765)gtgfs		cathepsin G																																				SO:0001589	frameshift_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042847_25042848insG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.764dupC	14.37:g.25042853_25042853dupG	ENSP00000216336:p.Leu255fs						p.V255fs	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	799_800	-			255					Q6IBJ6|Q9UCA5|Q9UCU6	Frame_Shift_Ins	INS	ENST00000216336.2	37	c.763_764insC	CCDS9631.1																																																																																				0.490	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		7	592						7	592	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs					GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		14	328						14	328	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			5	9						5	9	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106110246	106110247	+	RNA	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:106110246_106110247insG	ENST00000390545.2	-	0	370_371							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CCTTGGGTTTTGGGGGGAAGAG	0.619																																						ENST00000390545.2																			0																																																			3501							g.chr14:106110246_106110247insG	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110252_106110252dupG														0	370_371	-								A6NE66	RNA	INS	ENST00000390545.2	37																																																																																						0.619	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		12	680						12	680	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226									immunoglobulin heavy variable 4-39																		CCCAGTAGTAACTACTACTGCTG	0.596																																						ENST00000390619.2																			0																	1153,2423		29,1095,664						-0.6	0.0		dbSNP_134	58	1515,6297		125,1265,2516	no	intergenic				154,2360,3180	A1A1,A1R,RR		19.3932,32.2427,23.4282				2668,8720						28394							g.chr14:106877817_106877819delACT	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877823_106877825delACT														0	224_226	-									RNA	DEL	ENST00000390619.2	37																																																																																						0.596	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		27	30						27	30	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs					RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			25	657						25	657	---	---	---	---
SNURF	8926	broad.mit.edu	37	15	25227110	25227110	+	3'UTR	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:25227110delA	ENST00000551312.2	+	0	710				SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000459433.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TTATAAAGAGAAATAAGCATA	0.373																																						ENST00000551631.2																			0																				360.0	349.0	352.0					15																	25227110		876	1991	2867	SO:0001624	3_prime_UTR_variant	104472715							g.chr15:25227110delA		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.*479A>-	15.37:g.25227110delA								NR_001293.1						0	413	+								A6NCW2	RNA	DEL	ENST00000551312.2	37		CCDS10016.1																																																																																				0.373	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		15	337						15	337	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)cccgagfs	p.E1430fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.P1429P(1)		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)		ACGGGATGCTCGGGGGGAAACA	0.45																																						ENST00000261609.7																			1	Substitution - coding silent(1)	p.P1429P(1)	lung(1)	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.(4285-4290)ccagcafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	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.chr15:28478873_28478874insG	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.4288dupC	15.37:g.28478879_28478879dupG	ENSP00000261609:p.Glu1430fs						p.A1430fs	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)	28	4395_4396	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1430						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.4287_4288insC	CCDS10021.1																																																																																				0.450	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	279						8	279	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40282507	40282508	+	Frame_Shift_Ins	INS	-	-	T	rs35250897		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:40282507_40282508insT	ENST00000263791.5	+	16	2603_2604	c.2560_2561insT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Ins_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCCTGTCAACATTTTTTTGGAT	0.356																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2560-2562)tttfs		eukaryotic translation initiation factor 2 alpha kinase 4																																				SO:0001589	frameshift_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40282507_40282508insT	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2567dupT	15.37:g.40282514_40282514dupT	ENSP00000263791:p.Ile854fs					EIF2AK4_ENST00000382727.2_Frame_Shift_Ins_p.F826fs	p.F854fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	16	2603_2604	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	854			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Ins	INS	ENST00000263791.5	37	c.2560_2561insT	CCDS42016.1																																																																																				0.356	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			10	351						10	351	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49030559	49030560	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:49030559_49030560insT	ENST00000380950.2	-	27	5206_5207	c.5019_5020insA	c.(5017-5022)aaactgfs	p.L1674fs	CEP152_ENST00000399334.3_Frame_Shift_Ins_p.L1618fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1674					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTACTGCTCAGTTTTTTGAAAT	0.406																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(5017-5022)aatgagfs		centrosomal protein 152kDa			,	0,3714		0,0,1857					,	3.8	0.0			163	1,7907		0,1,3953	no	frameshift,frameshift	CEP152	NM_014985.3,NM_001194998.1	,	0,1,5810	A1A1,A1R,RR		0.0126,0.0,0.0086	,	,		1,11621				SO:0001589	frameshift_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49030559_49030560insT	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5020dupA	15.37:g.49030565_49030565dupT	ENSP00000370337:p.Leu1674fs					CEP152_ENST00000399334.3_Frame_Shift_Ins_p.NE1617fs	p.NE1673fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	27	5206_5207	-		all_lung(180;0.0428)	1617					E7ER66|Q17RV1|Q6NTA0	Frame_Shift_Ins	INS	ENST00000380950.2	37	c.5019_5020insA	CCDS58361.1																																																																																				0.406	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		7	316						7	316	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)cccaacfs	p.N1149fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.49																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3442-3447)ccacctfs		protogenin																																				SO:0001589	frameshift_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912218_55912219insG	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3445dupC	15.37:g.55912224_55912224dupG	ENSP00000373937:p.Asn1149fs						p.P1149fs	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3491_3492	-			1149						Frame_Shift_Ins	INS	ENST00000389286.4	37	c.3444_3445insC	CCDS42040.1																																																																																				0.490	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		7	233						7	233	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)cagfs	p.Q4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13153-13155)gtafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63918305_63918306insG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13154dupC	15.37:g.63918312_63918312dupG	ENSP00000390158:p.Gln4385fs						p.V4385fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			71	13240_13241	-			4385					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.13153_13154insC	CCDS45277.1																																																																																				0.559	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		20	179						20	179	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs						p.P1511fs	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			12	912						12	912	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)cccaaafs	p.K1557fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.5								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4666-4671)ccaagtfs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit				0,4264		0,0,2132						5.5	1.0			163	1,8247		0,1,4123	no	frameshift	SLX4	NM_032444.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3634840_3634841insG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4669dupC	16.37:g.3634846_3634846dupG	ENSP00000294008:p.Lys1557fs						p.S1557fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			13	5308_5309	-			1557			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	ENST00000294008.3	37	c.4668_4669insC	CCDS10506.2																																																																																				0.500	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		11	820						11	820	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)accfs	p.T46fs	MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCCT	0.465																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(136-138)cccfs		mahogunin ring finger 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4700413_4700414insC	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.142dupC	16.37:g.4700419_4700419dupC	ENSP00000382487:p.Thr46fs					MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs	p.P46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			2	229_230	+			46					A4URL3|A4URL4|Q86W76	Frame_Shift_Ins	INS	ENST00000399577.5	37	c.136_137insC	CCDS45402.1																																																																																				0.465	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			43	1739						43	1739	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		10	824						10	824	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)gccfs	p.A416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.A31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.A31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	416						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1246-1248)cccfs		sorting nexin 29																																				SO:0001589	frameshift_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12162916_12162917insC	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1252dupC	16.37:g.12162922_12162922dupC	ENSP00000456480:p.Ala416fs					SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	p.P416fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			10	1315_1316	+			31					B5MDW2|Q8N2X2|Q9HA26	Frame_Shift_Ins	INS	ENST00000566228.1	37	c.1246_1247insC	CCDS10553.2																																																																																				0.495	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			10	573						10	573	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:14346299_14346300insC	ENST00000341243.5	+	13	2610_2611	c.2610_2611insC	c.(2611-2613)cccfs	p.P871fs	MKL2_ENST00000571589.1_Frame_Shift_Ins_p.P882fs|MKL2_ENST00000574045.1_Frame_Shift_Ins_p.P832fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.P832fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	871					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2641-2646)gaccccfs		MKL/myocardin-like 2				2,4262		0,2,2130						1.0	1.0			79	5,8247		0,5,4121	no	frameshift	MKL2	NM_014048.3		0,7,6251	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12509				SO:0001589	frameshift_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14346299_14346300insC	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2617dupC	16.37:g.14346306_14346306dupC	ENSP00000345841:p.Pro871fs					MKL2_ENST00000341243.5_Frame_Shift_Ins_p.DP870fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs	p.DP881fs	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			15	2815_2816	+			870					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Ins	INS	ENST00000341243.5	37	c.2643_2644insC																																																																																					0.564	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		8	361						8	361	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs						p.S1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			16	1693						16	1693	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	403					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1204-1209)ctccccfs		acyl-CoA synthetase medium-chain family member 2A																																				SO:0001589	frameshift_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20489924_20489925insC	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1212dupC	16.37:g.20489930_20489930dupC	ENSP00000459451:p.Pro403fs					ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs	p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			10	1320_1321	+			402					B3KTT9|O75202	Frame_Shift_Ins	INS	ENST00000573854.1	37	c.1206_1207insC	CCDS32401.1																																																																																				0.505	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		10	336						10	336	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs					ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs	p.H405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	449						8	449	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)cggfs	p.R1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.R1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4201-4203)gctfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063027_21063028insG	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4202dupC	16.37:g.21063033_21063033dupG	ENSP00000261383:p.Arg1401fs					DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4200_4201	-			1401			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.4201_4202insC	CCDS10594.1																																																																																				0.569	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		19	602						19	602	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22262605	22262606	+	Frame_Shift_Ins	INS	-	-	G	rs139820091		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:22262605_22262606insG	ENST00000263026.5	+	6	1054_1055	c.580_581insG	c.(580-582)tggfs	p.W194fs		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	194	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGCCAAGCTCTGGGGGGAGGAG	0.619																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(580-582)gggfs		eukaryotic elongation factor-2 kinase																																				SO:0001589	frameshift_variant	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22262605_22262606insG	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.586dupG	16.37:g.22262611_22262611dupG	ENSP00000263026:p.Trp194fs						p.G194fs	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	6	1054_1055	+			194			Alpha-type protein kinase.		Q8N588	Frame_Shift_Ins	INS	ENST00000263026.5	37	c.580_581insG	CCDS10604.1																																																																																				0.619	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		8	201						8	201	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C	rs200740325	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.P588fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.P624fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.P624fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	624					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1867-1872)ttccccfs		polymerase (RNA) III (DNA directed) polypeptide E (80kD)																																				SO:0001589	frameshift_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22339833_22339834insC	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1876dupC	16.37:g.22339840_22339840dupC	ENSP00000299853:p.Pro624fs					POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	19	2036_2037	+			623					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Frame_Shift_Ins	INS	ENST00000299853.5	37	c.1869_1870insC	CCDS10605.1																																																																																				0.574	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		11	243						11	243	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)tggfs	p.W1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.W1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with AGO1 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.55																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3271-3273)gggfs		trinucleotide repeat containing 6A																																				SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24804889_24804890insG	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3277dupG	16.37:g.24804895_24804895dupG	ENSP00000379144:p.Trp1091fs					TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs	p.G1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	7	3400_3401	+			1091			Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	ENST00000395799.3	37	c.3271_3272insG	CCDS10624.2																																																																																				0.550	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	456						7	456	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	368						7	368	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)accfs		Rho GTPase activating protein 17																																				SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942179_24942180insG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2441dupC	16.37:g.24942186_24942186dupG	ENSP00000289968:p.Gln814fs					ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs|ARHGAP17_ENST00000441763.2_3'UTR	p.T814fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509_2510	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Ins	INS	ENST00000289968.6	37	c.2440_2441insC	CCDS32409.1																																																																																				0.574	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		10	175						10	175	---	---	---	---
MVP	9961	broad.mit.edu	37	16	29855917	29855918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:29855917_29855918insG	ENST00000357402.5	+	11	1876_1877	c.1738_1739insG	c.(1738-1740)cggfs	p.R580fs	MVP_ENST00000395353.1_Frame_Shift_Ins_p.R580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	580					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						ATCCCGGGTGCGGGGGGCCGTG	0.569																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1738-1740)gggfs		major vault protein																																				SO:0001589	frameshift_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855917_29855918insG	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1744dupG	16.37:g.29855923_29855923dupG	ENSP00000349977:p.Arg580fs					MVP_ENST00000395353.1_Frame_Shift_Ins_p.G580fs	p.G580fs	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			11	1876_1877	+			580					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Frame_Shift_Ins	INS	ENST00000357402.5	37	c.1738_1739insG	CCDS10656.1																																																																																				0.569	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		9	477						9	477	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs					TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs	p.D235fs			O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		24	393						24	393	---	---	---	---
PRSS8	5652	broad.mit.edu	37	16	31143765	31143766	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:31143765_31143766insC	ENST00000317508.6	-	5	952_953	c.689_690insG	c.(688-690)ggcfs	p.G230fs	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Frame_Shift_Ins_p.G176fs	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCGTCCTTGCCCCCCTCCAC	0.609																																						ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(688-690)gaafs		protease, serine, 8																																				SO:0001589	frameshift_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143765_31143766insC	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.690dupG	16.37:g.31143771_31143771dupC	ENSP00000319730:p.Gly230fs					PRSS8_ENST00000568261.1_Frame_Shift_Ins_p.E176fs	p.E230fs	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			5	952_953	-			230			Peptidase S1.		B4DWP2|Q9UCA3	Frame_Shift_Ins	INS	ENST00000317508.6	37	c.689_690insG	CCDS45469.1																																																																																				0.609	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		7	272						7	272	---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31498692	31498693	+	Frame_Shift_Ins	INS	-	-	G	rs370878574		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:31498692_31498693insG	ENST00000330498.3	+	6	645_646	c.626_627insG	c.(625-630)ctggggfs	p.LG209fs	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	209					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TTCGTCATTCTGGGGGGCGCCT	0.678																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(625-627)cggfs		solute carrier family 5 (sodium/glucose cotransporter), member 2																																				SO:0001589	frameshift_variant	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31498692_31498693insG		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.632dupG	16.37:g.31498698_31498698dupG	ENSP00000327943:p.Leu209fs					AC026471.6_ENST00000565137.1_RNA	p.R209fs	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			6	645_646	+			209					A2RRD2	Frame_Shift_Ins	INS	ENST00000330498.3	37	c.626_627insG	CCDS10714.1																																																																																				0.678	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	270						12	270	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745330	50745331	+	Frame_Shift_Ins	INS	-	-	G	rs104895434		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:50745330_50745331insG	ENST00000300589.2	+	4	1613_1614	c.1508_1509insG	c.(1507-1512)gaggggfs	p.EG503fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTGCTGCAGGAGGGGGGGTCCC	0.574																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1507-1509)gggfs		nucleotide-binding oligomerization domain containing 2																																				SO:0001589	frameshift_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745330_50745331insG	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1515dupG	16.37:g.50745337_50745337dupG	ENSP00000300589:p.Glu503fs						p.G503fs	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1613_1614	+		all_cancers(37;0.0156)	503			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Ins	INS	ENST00000300589.2	37	c.1508_1509insG	CCDS10746.1																																																																																				0.574	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		8	186						8	186	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs						p.S38fs	NM_032935.2	NP_116324.1	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		32	1001						32	1001	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57938727	57938728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:57938727_57938728insC	ENST00000251102.8	-	26	2604_2605	c.2544_2545insG	c.(2542-2547)gggctgfs	p.L849fs	CNGB1_ENST00000564448.1_Frame_Shift_Ins_p.L843fs	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	849					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATGG	0.51																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(2524-2529)ggtgccfs		cyclic nucleotide gated channel beta 1				0,3628		0,0,1814						5.1	1.0			103	1,7895		0,1,3947	no	frameshift	CNGB1	NM_001297.4		0,1,5761	A1A1,A1R,RR		0.0127,0.0,0.0087				1,11523				SO:0001589	frameshift_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57938727_57938728insC	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2545dupG	16.37:g.57938733_57938733dupC	ENSP00000251102:p.Leu849fs					CNGB1_ENST00000251102.8_Frame_Shift_Ins_p.A849fs	p.A843fs			Q14028	CNGB1_HUMAN			26	2586_2587	-			849					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Frame_Shift_Ins	INS	ENST00000251102.8	37	c.2526_2527insG	CCDS42169.1																																																																																				0.510	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		8	317						8	317	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			8	420						8	420	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67327838	67327839	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:67327838_67327839insG	ENST00000304372.5	-	12	1881_1882	c.1826_1827insC	c.(1825-1827)ccafs	p.P609fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	609					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATTTCTTCTTTGGGGGGCTCTC	0.545																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1825-1827)caafs		potassium channel tetramerization domain containing 19																																				SO:0001589	frameshift_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327838_67327839insG	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1827dupC	16.37:g.67327844_67327844dupG	ENSP00000305702:p.Pro609fs						p.Q609fs	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	1881_1882	-		Ovarian(137;0.192)	609					B4DZ49|Q8N804	Frame_Shift_Ins	INS	ENST00000304372.5	37	c.1826_1827insC	CCDS42179.1																																																																																				0.545	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		9	239						9	239	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		9	473						9	473	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cctfs	p.P2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8971-8973)cgafs		HYDIN, axonemal central pair apparatus protein																																				SO:0001589	frameshift_variant	54768							g.chr16:70934982_70934983insG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8973dupC	16.37:g.70934988_70934988dupG	ENSP00000377197:p.Pro2991fs						p.R2991fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9122_9123	-		Ovarian(137;0.0654)	2991					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.8972_8973insC	CCDS59269.1																																																																																				0.574	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			11	1201						11	1201	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668195	71668196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:71668195_71668196insG	ENST00000268485.3	+	3	739_740	c.695_696insG	c.(694-699)ttggggfs	p.LG232fs	MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.G46fs|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	232	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCACCAGCTTGGGGGGCATTT	0.559																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(694-696)tggfs		MARVEL domain containing 3																																				SO:0001589	frameshift_variant	91862					integral to membrane		g.chr16:71668195_71668196insG	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.701dupG	16.37:g.71668201_71668201dupG	ENSP00000268485:p.Leu232fs					MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	p.W232fs	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	739_740	+		Ovarian(137;0.125)	232			MARVEL.		A8K820|H3BQM5|Q96MJ4	Frame_Shift_Ins	INS	ENST00000268485.3	37	c.695_696insG	CCDS10904.1																																																																																				0.559	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		10	328						10	328	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991757	72991758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:72991757_72991758insC	ENST00000268489.5	-	2	2959_2960	c.2287_2288insG	c.(2287-2289)gagfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCCA	0.624																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2287-2289)gcafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991757_72991758insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2288dupG	16.37:g.72991764_72991764dupC	ENSP00000268489:p.Glu763fs					ZFHX3_ENST00000397992.5_Intron	p.A763fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2959_2960	-		Ovarian(137;0.13)	763					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.2287_2288insG	CCDS10908.1																																																																																				0.624	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	118						7	118	---	---	---	---
FA2H	79152	broad.mit.edu	37	16	74752942	74752943	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:74752942_74752943insG	ENST00000219368.3	-	5	798_799	c.729_730insC	c.(727-732)cccagcfs	p.S244fs	FA2H_ENST00000544337.1_Frame_Shift_Ins_p.S31fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	244					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGCTGTCGCTGGGGGGCTTCA	0.614																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(727-732)ccgcgafs		fatty acid 2-hydroxylase																																				SO:0001589	frameshift_variant	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74752942_74752943insG	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.730dupC	16.37:g.74752948_74752948dupG	ENSP00000219368:p.Ser244fs					FA2H_ENST00000544337.1_Frame_Shift_Ins_p.R31fs	p.R244fs	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN			5	798_799	-			244					B7Z8T6|O75213|Q96DK1|Q9H1A5	Frame_Shift_Ins	INS	ENST00000219368.3	37	c.729_730insC	CCDS10911.1																																																																																				0.614	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		8	368						8	368	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	RN7SL608P_ENST00000492377.2_RNA|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs	p.SG348fs	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		7	359						7	359	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs					RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron	p.P298fs	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			17	764						17	764	---	---	---	---
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C	rs534765323		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7294058_7294059insC	ENST00000576362.1	-	6	810_811	c.653_654insG	c.(652-654)ggcfs	p.G218fs	TMEM256-PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000535512.1_Frame_Shift_Ins_p.G242fs|TMEM256-PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.G242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.G242fs					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTCGGACCAGGCCCCCCCACTG	0.614																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(724-726)gctfs		phospholipid scramblase 3																																				SO:0001589	frameshift_variant	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7294058_7294059insC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.654dupG	17.37:g.7294065_7294065dupC	ENSP00000460800:p.Gly218fs					PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs	p.A242fs			Q9NRY6	PLS3_HUMAN			10	1742_1743	-		Prostate(122;0.173)	242						Frame_Shift_Ins	INS	ENST00000576362.1	37	c.725_726insG																																																																																					0.614	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			8	360						8	360	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(2512-2514)cccfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8224297_8224298insC	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs					ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.P838fs	p.P838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			16	2622_2623	+			838					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.2512_2513insC	CCDS11139.1																																																																																				0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		11	223						11	223	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10369888	10369889	+	Frame_Shift_Ins	INS	-	-	C	rs143441825	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:10369888_10369889insC	ENST00000255381.2	-	3	284_285	c.174_175insG	c.(172-177)gggaagfs	p.K59fs	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCCC	0.46																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(172-177)ggaggtfs		myosin, heavy chain 4, skeletal muscle																																				SO:0001589	frameshift_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369888_10369889insC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.175dupG	17.37:g.10369894_10369894dupC	ENSP00000255381:p.Lys59fs					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.G59fs	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			3	284_285	-			59			Myosin head-like.			Frame_Shift_Ins	INS	ENST00000255381.2	37	c.174_175insG	CCDS11154.1																																																																																				0.460	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		7	564						7	564	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)cccaagfs	p.K84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.K84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(247-252)ccagttfs		myosin, heavy chain 3, skeletal muscle, embryonic																																				SO:0001589	frameshift_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555835_10555836insG		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.250dupC	17.37:g.10555842_10555842dupG	ENSP00000464317:p.Lys84fs					MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			4	336_337	-			84			Myosin head-like.		Q15492	Frame_Shift_Ins	INS	ENST00000583535.1	37	c.249_250insC	CCDS11157.1																																																																																				0.495	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		12	311						12	311	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:12642605_12642606insC	ENST00000343344.4	+	7	677_678	c.677_678insC	c.(676-681)ggccccfs	p.GP226fs	MYOCD_ENST00000425538.1_Frame_Shift_Ins_p.GP226fs|AC005358.1_ENST00000609971.1_Frame_Shift_Ins_p.GP130fs|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(676-678)gccfs		myocardin																																				SO:0001589	frameshift_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12642605_12642606insC	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.684dupC	17.37:g.12642612_12642612dupC	ENSP00000341835:p.Gly226fs					MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs|MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs	p.A226fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	7	877_878	+			226					Q5UBU5|Q8N7Q1	Frame_Shift_Ins	INS	ENST00000343344.4	37	c.677_678insC	CCDS11163.1																																																																																				0.584	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		13	165						13	165	---	---	---	---
ATPAF2	91647	broad.mit.edu	37	17	17927959	17927961	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:17927959_17927961delATT	ENST00000474627.3	-	5	634_636	c.480_482delAAT	c.(478-483)ccaatc>ccc	p.I162del	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_3'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	162					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATTCGATGATTGGATCCCACT	0.468																																						ENST00000474627.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8						c.(478-483)ccc>cc		ATP synthase mitochondrial F1 complex assembly factor 2																																				SO:0001651	inframe_deletion	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17927959_17927961delATT	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.480_482delAAT	17.37:g.17927959_17927961delATT	ENSP00000417190:p.Ile162del					ATPAF2_ENST00000585101.1_3'UTR|ATPAF2_ENST00000469327.1_5'UTR	p.PI160del	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN			5	634_636	-	all_neural(463;0.228)		160					A6NDE5|A8K2J2|Q6XYC7	In_Frame_Del	DEL	ENST00000474627.3	37	c.480_482delAAT	CCDS32585.1																																																																																				0.468	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		17	36						17	36	---	---	---	---
UBBP4	23666	broad.mit.edu	37	17	21731033	21731034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:21731033_21731034insC	ENST00000578713.1	+	1	339_340	c.335_336insC	c.(334-339)atccccfs	p.IP112fs	UBBP4_ENST00000584755.1_Frame_Shift_Ins_p.IP112fs|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAAGAAGGCATCCCCCCCGACC	0.54																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(334-336)accfs																																						SO:0001589	frameshift_variant	23666							g.chr17:21731033_21731034insC	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.342dupC	17.37:g.21731040_21731040dupC	ENSP00000464265:p.Ile112fs					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Frame_Shift_Ins_p.T112fs	p.T112fs							2	732_733	+									Frame_Shift_Ins	INS	ENST00000578713.1	37	c.335_336insC																																																																																					0.540	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	104						7	104	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27068995	27068996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27068995_27068996insC	ENST00000268766.6	+	15	2103_2104	c.2069_2070insC	c.(2068-2073)gtccccfs	p.VP690fs	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000444415.3_5'Flank|TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000582536.1_RNA|TRAF4_ENST00000262396.6_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	690					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P703fs*10(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGAG	0.584																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			1	Deletion - Frameshift(1)	p.P703fs*10(1)	ovary(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2068-2070)gccfs		NIMA-related kinase 8																																				SO:0001589	frameshift_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068995_27068996insC	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.2076dupC	17.37:g.27069002_27069002dupC	ENSP00000268766:p.Val690fs					AC010761.6_ENST00000584779.1_RNA	p.A690fs	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			15	2103_2104	+	Lung NSC(42;0.0158)		690					A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Frame_Shift_Ins	INS	ENST00000268766.6	37	c.2069_2070insC	CCDS32597.1																																																																																				0.584	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			16	347						16	347	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)ccafs	p.P882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.51																																						ENST00000332830.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(2644-2646)cagfs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27233908_27233909insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2646dupC	17.37:g.27233915_27233915dupG	ENSP00000329933:p.Pro882fs					PHF12_ENST00000577226.1_3'UTR	p.Q882fs	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		14	3455_3456	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		882						Frame_Shift_Ins	INS	ENST00000332830.4	37	c.2645_2646insC	CCDS32598.1																																																																																				0.510	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		12	309						12	309	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.47																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1870-1875)cctgtcfs		slingshot protein phosphatase 2																																				SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963294_27963295insG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1873dupC	17.37:g.27963301_27963301dupG	ENSP00000269033:p.Met625fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	p.V625fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			14	2023_2024	-			625					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.1872_1873insC	CCDS11253.1																																																																																				0.470	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		9	315						9	315	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36708245	36708246	+	Frame_Shift_Ins	INS	-	-	G	rs376054790|rs183571525		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:36708245_36708246insG	ENST00000264659.7	-	14	2827_2828	c.2603_2604insC	c.(2602-2604)ccgfs	p.P868fs	SRCIN1_ENST00000578925.1_Frame_Shift_Ins_p.P902fs|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	740	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.P868P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCAGGTTCAGCGGGGGGCTGGG	0.619																																						ENST00000264659.7																			1	Substitution - coding silent(1)	p.P868P(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2602-2604)cctfs		SRC kinase signaling inhibitor 1																																				SO:0001589	frameshift_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36708245_36708246insG		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2604dupC	17.37:g.36708251_36708251dupG	ENSP00000264659:p.Pro868fs					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Frame_Shift_Ins_p.P902fs	p.P868fs	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			14	2827_2828	-			740			Pro-rich.		Q75T46|Q8N4W8	Frame_Shift_Ins	INS	ENST00000264659.7	37	c.2603_2604insC	CCDS45660.1																																																																																				0.619	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		7	112						7	112	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4375-4377)gggfs		cyclin-dependent kinase 12																																				SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687471_37687472insG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4382dupG	17.37:g.37687478_37687478dupG	ENSP00000398880:p.Trp1459fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	p.G1459fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4408_4409	+			1459					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	c.4375_4376insG	CCDS11337.1																																																																																				0.559	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		7	150						7	150	---	---	---	---
GSDMB	55876	broad.mit.edu	37	17	38065269	38065270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:38065269_38065270insG	ENST00000394179.1	-	5	732_733	c.602_603insC	c.(601-603)ccafs	p.P201fs	GSDMB_ENST00000520542.1_Frame_Shift_Ins_p.P201fs|GSDMB_ENST00000309481.7_Frame_Shift_Ins_p.P201fs|GSDMB_ENST00000360317.3_Frame_Shift_Ins_p.P201fs|GSDMB_ENST00000394175.2_Frame_Shift_Ins_p.P201fs|GSDMB_ENST00000418519.1_Frame_Shift_Ins_p.P201fs			Q8TAX9	GSDMB_HUMAN	gasdermin B	201						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGACCCGATTTGGGGGGATGGT	0.505																																						ENST00000394175.2																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						c.(601-603)caafs		gasdermin B																																				SO:0001589	frameshift_variant	55876					cytoplasm		g.chr17:38065269_38065270insG	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.603dupC	17.37:g.38065275_38065275dupG	ENSP00000377733:p.Pro201fs					GSDMB_ENST00000309481.7_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000418519.1_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000360317.3_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000520542.1_Frame_Shift_Ins_p.Q201fs|GSDMB_ENST00000394179.1_Frame_Shift_Ins_p.Q201fs	p.Q201fs	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN			4	825_826	-			201					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Frame_Shift_Ins	INS	ENST00000394179.1	37	c.602_603insC																																																																																					0.505	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		8	457						8	457	---	---	---	---
KRT33B	3884	broad.mit.edu	37	17	39525930	39525931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39525930_39525931insG	ENST00000251646.3	-	1	121_122	c.72_73insC	c.(70-75)cccagcfs	p.S25fs		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	25	Head.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACAC	0.649																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(70-75)ccgctgfs		keratin 33B																																				SO:0001589	frameshift_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39525930_39525931insG	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.73dupC	17.37:g.39525936_39525936dupG	ENSP00000251646:p.Ser25fs						p.L25fs	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			1	121_122	-		Breast(137;0.000496)	25			Head.		O76010	Frame_Shift_Ins	INS	ENST00000251646.3	37	c.72_73insC	CCDS11389.1																																																																																				0.649	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		8	99						8	99	---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40370235	40370236	+	Frame_Shift_Ins	INS	-	-	G	rs144993426		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40370235_40370236insG	ENST00000293328.3	-	9	1270_1271	c.1102_1103insC	c.(1102-1104)cagfs	p.Q368fs		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	368					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GGCCTTCACCTGGGGGGGGTTC	0.574																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	GRCh37	CI064735	STAT5B	I		c.(1102-1104)ggtfs		signal transducer and activator of transcription 5B	Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370235_40370236insG	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1103dupC	17.37:g.40370243_40370243dupG	ENSP00000293328:p.Gln368fs						p.G368fs	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1270_1271	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	368					Q8WWS8	Frame_Shift_Ins	INS	ENST00000293328.3	37	c.1102_1103insC	CCDS11423.1																																																																																				0.574	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		11	96						11	96	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40453398	40453399	+	Frame_Shift_Ins	INS	-	-	C	rs146398782	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40453398_40453399insC	ENST00000345506.4	+	10	1737_1738	c.1095_1096insC	c.(1096-1098)cccfs	p.P366fs	STAT5A_ENST00000588868.1_Frame_Shift_Ins_p.P366fs|STAT5A_ENST00000590949.1_Frame_Shift_Ins_p.P366fs|STAT5A_ENST00000546010.2_Frame_Shift_Ins_p.P336fs|STAT5A_ENST00000452307.2_Frame_Shift_Ins_p.P366fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	366					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCACATGAATCCCCCCCAGGT	0.564																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1093-1098)aaccccfs		signal transducer and activator of transcription 5A																																				SO:0001589	frameshift_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453398_40453399insC	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1102dupC	17.37:g.40453405_40453405dupC	ENSP00000341208:p.Pro366fs					STAT5A_ENST00000546010.2_Frame_Shift_Ins_p.NP335fs|STAT5A_ENST00000452307.2_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000590949.1_Frame_Shift_Ins_p.NP365fs|STAT5A_ENST00000588868.1_Frame_Shift_Ins_p.NP365fs	p.NP365fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1737_1738	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	365					Q1KLZ6	Frame_Shift_Ins	INS	ENST00000345506.4	37	c.1095_1096insC	CCDS11424.1																																																																																				0.564	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		12	583						12	583	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843956	40843957	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40843956_40843957insG	ENST00000264638.4	+	16	2694_2695	c.2477_2478insG	c.(2476-2481)atggggfs	p.MG826fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	826	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTAGAGAATATGGGGGGCCCTT	0.604																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2476-2478)aggfs		contactin associated protein 1																																				SO:0001589	frameshift_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843956_40843957insG	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2483dupG	17.37:g.40843962_40843962dupG	ENSP00000264638:p.Met826fs					CTD-3193K9.3_ENST00000592440.1_RNA	p.R826fs	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2694_2695	+		Breast(137;0.000143)	826			Laminin G-like 3.			Frame_Shift_Ins	INS	ENST00000264638.4	37	c.2477_2478insG	CCDS11436.1																																																																																				0.604	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		7	694						7	694	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40996940	40996941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:40996940_40996941insC	ENST00000253799.3	+	1	324_325	c.297_298insC	c.(298-300)cccfs	p.P100fs	AOC2_ENST00000452774.2_Frame_Shift_Ins_p.P100fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	100					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTGCAGCTGCCCCCCAAGGC	0.678																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(295-300)ctccccfs		amine oxidase, copper containing 2 (retina-specific)																																				SO:0001589	frameshift_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996940_40996941insC	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.303dupC	17.37:g.40996946_40996946dupC	ENSP00000253799:p.Pro100fs					AOC2_ENST00000452774.2_Frame_Shift_Ins_p.LP99fs	p.LP99fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	324_325	+		Breast(137;0.000143)	99					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Frame_Shift_Ins	INS	ENST00000253799.3	37	c.297_298insC	CCDS11443.1																																																																																				0.678	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		7	217						7	217	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994141	45994142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:45994141_45994142insC	ENST00000376741.4	+	3	841_842	c.704_705insC	c.(703-708)agccccfs	p.SP235fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	235					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCACTGAAAGCCCCCCAACCC	0.609																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(703-705)accfs		Sp2 transcription factor																																				SO:0001589	frameshift_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994141_45994142insC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.710dupC	17.37:g.45994147_45994147dupC	ENSP00000365931:p.Ser235fs					AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	p.T235fs	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	841_842	+			235					A6NK74	Frame_Shift_Ins	INS	ENST00000376741.4	37	c.704_705insC	CCDS11521.2																																																																																				0.609	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		13	430						13	430	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994349	45994350	+	Frame_Shift_Ins	INS	-	-	C	rs142857959|rs148511412		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:45994349_45994350insC	ENST00000376741.4	+	3	1049_1050	c.912_913insC	c.(913-915)cccfs	p.P305fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	305					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCCAGGTGGTGCCCCCCAAGGC	0.649																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(910-915)gtccccfs		Sp2 transcription factor																																				SO:0001589	frameshift_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994349_45994350insC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.918dupC	17.37:g.45994355_45994355dupC	ENSP00000365931:p.Pro305fs					AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	p.VP304fs	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	1049_1050	+			304					A6NK74	Frame_Shift_Ins	INS	ENST00000376741.4	37	c.912_913insC	CCDS11521.2																																																																																				0.649	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		9	323						9	323	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46628218	46628219	+	Frame_Shift_Ins	INS	-	-	C	rs142877220	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:46628218_46628219insC	ENST00000470495.1	-	2	2220_2221	c.773_774insG	c.(772-774)ggcfs	p.G258fs	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Frame_Shift_Ins_p.G124fs|HOXB3_ENST00000489475.1_Frame_Shift_Ins_p.G185fs|HOXB3_ENST00000498678.1_Frame_Shift_Ins_p.G258fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Ins_p.G185fs|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000476342.1_Frame_Shift_Ins_p.G258fs|HOXB3_ENST00000485909.2_Frame_Shift_Ins_p.G126fs|HOXB3_ENST00000311626.4_Frame_Shift_Ins_p.G258fs|HOXB3_ENST00000460160.1_Frame_Shift_Ins_p.G126fs			P14651	HXB3_HUMAN	homeobox B3	258					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTGGAGATGGGCCCCCCGACGA	0.639											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(772-774)gccfs		homeobox B3																																				SO:0001589	frameshift_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628218_46628219insC		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.774dupG	17.37:g.46628224_46628224dupC	ENSP00000417207:p.Gly258fs		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000311626.4_Frame_Shift_Ins_p.A258fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Ins_p.A185fs|HOXB3_ENST00000490677.1_Frame_Shift_Ins_p.A124fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Frame_Shift_Ins_p.A258fs|HOXB3_ENST00000476342.1_Frame_Shift_Ins_p.A258fs|HOXB3_ENST00000489475.1_Frame_Shift_Ins_p.A185fs|HOXB3_ENST00000485909.2_Frame_Shift_Ins_p.A126fs|HOXB3_ENST00000460160.1_Frame_Shift_Ins_p.A126fs|HOXB-AS3_ENST00000465846.2_RNA	p.A258fs			P14651	HXB3_HUMAN			2	2220_2221	-			258					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Frame_Shift_Ins	INS	ENST00000470495.1	37	c.773_774insG	CCDS11528.1																																																																																				0.639	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			8	291						8	291	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs					CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		25	1320						25	1320	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs					MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		12	328						12	328	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.46																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(958-963)ggcatcfs		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	162333						ligase activity|zinc ion binding	g.chr17:60814265_60814266insC	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.964dupG	17.37:g.60814271_60814271dupC	ENSP00000311496:p.Thr322fs					MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA	p.I321fs			Q8NA82	MARHA_HUMAN			7	1338_1339	-			322					D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Ins	INS	ENST00000311269.5	37	c.960_961insG	CCDS11635.1																																																																																				0.460	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		8	895						8	895	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(955-957)cccfs	p.P319fs	FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.P311fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.P311fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.P311fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	319	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(952-957)ccccccfs		proteasome (prosome, macropain) 26S subunit, ATPase, 5																																				SO:0001589	frameshift_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908770_61908771insC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.960dupC	17.37:g.61908776_61908776dupC	ENSP00000310572:p.Pro319fs					PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs	p.PP318fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			9	1262_1263	+			318					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Ins	INS	ENST00000310144.6	37	c.954_955insC	CCDS11645.1																																																																																				0.545	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		10	435						10	435	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)caafs	p.Q1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3709-3711)aagfs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083603_67083604insG	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3710dupC	17.37:g.67083609_67083609dupG	ENSP00000284425:p.Gln1237fs					ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3883_3884	-	Breast(10;5.65e-12)		1237					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.3709_3710insC	CCDS11683.1																																																																																				0.376	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		14	800						14	800	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs					FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron	p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		7	243						7	243	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(262-264)gggfs	p.G88fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	88					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(259-264)ccggggfs		immature colon carcinoma transcript 1																																				SO:0001589	frameshift_variant	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73015832_73015833insG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.267dupG	17.37:g.73015838_73015838dupG	ENSP00000301585:p.Gly88fs						p.PG87fs	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			3	274_275	+	all_lung(278;0.226)		87					B2RAD1|Q53HM7|Q53Y11	Frame_Shift_Ins	INS	ENST00000301585.5	37	c.261_262insG	CCDS11711.1																																																																																				0.441	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		8	503						8	503	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)gacfs	p.D23fs	GRB2_ENST00000578961.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.D23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.D23fs|RP11-16C1.1_ENST00000578226.1_RNA			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.53																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(67-69)catfs		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)																																			SO:0001589	frameshift_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73389642_73389643insC		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.68dupG	17.37:g.73389648_73389648dupC	ENSP00000376345:p.Asp23fs					GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs	p.H23fs			P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		2	849_850	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		23			SH3 1.		P29354|Q14450|Q63057|Q63059	Frame_Shift_Ins	INS	ENST00000392562.1	37	c.67_68insG	CCDS11721.1																																																																																				0.530	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			10	920						10	920	---	---	---	---
B3GNTL1	146712	broad.mit.edu	37	17	81006371	81006372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:81006371_81006372insC	ENST00000320865.3	-	3	265_266	c.252_253insG	c.(250-255)gggcacfs	p.H85fs	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	85							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGAATCGTGCCCCCCAATGA	0.441																																						ENST00000320865.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(250-255)ggacgafs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1																																				SO:0001589	frameshift_variant	146712						transferase activity, transferring glycosyl groups	g.chr17:81006371_81006372insC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.253dupG	17.37:g.81006377_81006377dupC	ENSP00000319979:p.His85fs					B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	p.R85fs	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		3	265_266	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	85					Q6GV30|Q8WUT3	Frame_Shift_Ins	INS	ENST00000320865.3	37	c.252_253insG	CCDS32778.1																																																																																				0.441	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		8	331						8	331	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29867327	29867328	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:29867327_29867328insC	ENST00000269209.6	-	4	1235_1236	c.1232_1233insG	c.(1231-1233)ggafs	p.G411fs	GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Frame_Shift_Ins_p.G411fs|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	411					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GAGCCCAATCTCCCCCCAGGTC	0.545																																						ENST00000399218.4																			0											c.(1231-1233)ggafs		GRB2 associated, regulator of MAPK1																																				SO:0001589	frameshift_variant	64762							g.chr18:29867327_29867328insC	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1233dupG	18.37:g.29867333_29867333dupC	ENSP00000269209:p.Gly411fs					GAREM_ENST00000269209.6_Frame_Shift_Ins_p.G411fs	p.G411fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	1287_1288	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Frame_Shift_Ins	INS	ENST00000269209.6	37	c.1232_1233insG	CCDS56057.1																																																																																				0.545	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		9	422						9	422	---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34850792	34850793	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:34850792_34850793insG	ENST00000591282.1	-	8	1036_1037	c.1037_1038insC	c.(1036-1038)ccafs	p.P346fs	CELF4_ENST00000361795.5_Frame_Shift_Ins_p.P344fs|CELF4_ENST00000601019.1_Frame_Shift_Ins_p.P344fs|CELF4_ENST00000412753.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000334919.5_Frame_Shift_Ins_p.P336fs|CELF4_ENST00000603232.1_Frame_Shift_Ins_p.P345fs|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000591287.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000588597.1_Frame_Shift_Ins_p.P335fs|CELF4_ENST00000420428.2_Frame_Shift_Ins_p.P346fs			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	346					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CATTGGCCTGTGGGGGGAGGCC	0.614																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1036-1038)ccafs		CUGBP, Elav-like family member 4																																				SO:0001589	frameshift_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34850792_34850793insG	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1038dupC	18.37:g.34850798_34850798dupG	ENSP00000464794:p.Pro346fs					CELF4_ENST00000591282.1_Frame_Shift_Ins_p.P346fs|CELF4_ENST00000361795.5_Frame_Shift_Ins_p.P344fs|CELF4_ENST00000603232.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000601019.1_Frame_Shift_Ins_p.P344fs|CELF4_ENST00000412753.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000588597.1_Frame_Shift_Ins_p.P335fs|CELF4_ENST00000591287.1_Frame_Shift_Ins_p.P345fs|CELF4_ENST00000334919.5_Frame_Shift_Ins_p.P336fs	p.P346fs	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			8	1432_1433	-			346					Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Frame_Shift_Ins	INS	ENST00000591282.1	37	c.1037_1038insC	CCDS32818.1																																																																																				0.614	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		12	332						12	332	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566518	45566519	+	Frame_Shift_Ins	INS	-	-	C	rs113275715		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:45566518_45566519insC	ENST00000588982.1	-	3	1461_1462	c.960_961insG	c.(958-963)gggcctfs	p.P321fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.P321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.P321fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	321	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGTCCCAGAGGCCCCCCCGGCA	0.624																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(958-963)ggctctfs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566518_45566519insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.961dupG	18.37:g.45566525_45566525dupC	ENSP00000468782:p.Pro321fs					ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs	p.S321fs			A1YPR0	ZBT7C_HUMAN			3	1461_1462	-			321			Pro-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.960_961insG	CCDS32830.1																																																																																				0.624	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		15	320						15	320	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567084	45567085	+	Frame_Shift_Ins	INS	-	-	C	rs115080210		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:45567084_45567085insC	ENST00000588982.1	-	3	895_896	c.394_395insG	c.(394-396)gacfs	p.D132fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.D132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.D132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.D132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.D132fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ctcccccccgtcccccCCAGGC	0.579																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(394-396)cggfs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567084_45567085insC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.395dupG	18.37:g.45567091_45567091dupC	ENSP00000468782:p.Asp132fs					ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.R132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.R132fs	p.R132fs			A1YPR0	ZBT7C_HUMAN			3	895_896	-			132			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.394_395insG	CCDS32830.1																																																																																				0.579	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		9	217						9	217	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46163042	46163043	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:46163042_46163043insC	ENST00000256413.3	+	3	533_534	c.238_239insC	c.(238-240)gccfs	p.A80fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.A80fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CCGAGGGCGAGCCCCCCCACAG	0.644																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(238-240)cccfs		CBP80/20-dependent translation initiation factor																																				SO:0001589	frameshift_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46163042_46163043insC	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.245dupC	18.37:g.46163049_46163049dupC	ENSP00000256413:p.Ala80fs					CTIF_ENST00000382998.4_Frame_Shift_Ins_p.P80fs	p.P80fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			3	533_534	+			80			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Frame_Shift_Ins	INS	ENST00000256413.3	37	c.238_239insC	CCDS11935.1																																																																																				0.644	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		8	80						8	80	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54358512	54358513	+	Frame_Shift_Ins	INS	-	-	G	rs534266436		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:54358512_54358513insG	ENST00000254442.3	+	8	994_995	c.783_784insG	c.(784-786)gggfs	p.G262fs	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Ins_p.G262fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	262					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACTT	0.416																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(781-786)acggggfs		WD repeat domain 7																																				SO:0001589	frameshift_variant	23335							g.chr18:54358512_54358513insG	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.790dupG	18.37:g.54358519_54358519dupG	ENSP00000254442:p.Gly262fs					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Ins_p.TG261fs	p.TG261fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	8	994_995	+			261					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Ins	INS	ENST00000254442.3	37	c.783_784insG	CCDS11962.1																																																																																				0.416	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			7	149						7	149	---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72168667	72168668	+	Frame_Shift_Ins	INS	-	-	G	rs556124772		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:72168667_72168668insG	ENST00000324262.4	+	3	480_481	c.164_165insG	c.(163-168)ttggggfs	p.LG55fs	CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.LG55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.LG55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	55					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTAAGCAGTTGGGGGGCTCTG	0.52																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(163-165)tggfs		CNDP dipeptidase 2 (metallopeptidase M20 family)																																				SO:0001589	frameshift_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72168667_72168668insG	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.170dupG	18.37:g.72168673_72168673dupG	ENSP00000325548:p.Leu55fs					CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.W55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.W55fs	p.W55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	3	480_481	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	55					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Frame_Shift_Ins	INS	ENST00000324262.4	37	c.164_165insG	CCDS12006.1																																																																																				0.520	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		12	581						12	581	---	---	---	---
ACER1	125981	broad.mit.edu	37	19	6312164	6312165	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:6312164_6312165insC	ENST00000301452.4	-	3	422_423	c.345_346insG	c.(343-348)gggaacfs	p.N116fs		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	116					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						ACCCACCTGTTCCCCCCAAGGA	0.614																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(343-348)ggacagfs		alkaline ceramidase 1																																				SO:0001589	frameshift_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6312164_6312165insC	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.346dupG	19.37:g.6312170_6312170dupC	ENSP00000301452:p.Asn116fs						p.Q116fs	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			3	422_423	-			116						Frame_Shift_Ins	INS	ENST00000301452.4	37	c.345_346insG	CCDS12161.1																																																																																				0.614	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		7	258						7	258	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)cggfs	p.R215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.R93fs|SH2D3A_ENST00000599563.1_5'UTR	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						GGAGGGTGTCCGGGGGGGCTTC	0.653																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(643-645)gacfs		SH2 domain containing 3A																																				SO:0001589	frameshift_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755179_6755180insG	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.644dupC	19.37:g.6755186_6755186dupG	ENSP00000245908:p.Arg215fs					SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	p.D215fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	912_913	-			215					A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Ins	INS	ENST00000245908.6	37	c.643_644insC	CCDS12173.1																																																																																				0.653	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		37	923						37	923	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7168022	7168023	+	Frame_Shift_Ins	INS	-	-	G	rs546462100	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7168022_7168023insG	ENST00000302850.5	-	7	1708_1709	c.1566_1567insC	c.(1564-1569)cccgacfs	p.D523fs	INSR_ENST00000341500.5_Frame_Shift_Ins_p.D523fs	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	523					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCGGAAGTCGGGGGGCCAGT	0.475																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1564-1569)ccacttfs		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7168022_7168023insG	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1567dupC	19.37:g.7168028_7168028dupG	ENSP00000303830:p.Asp523fs					INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs	p.L523fs	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			7	1605_1606	-			523					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Frame_Shift_Ins	INS	ENST00000302850.5	37	c.1566_1567insC	CCDS12176.1																																																																																				0.475	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			8	301						8	301	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9049102	9049103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9049102_9049103insA	ENST00000397910.4	-	5	32731_32732	c.32528_32529insT	c.(32527-32529)ttcfs	p.F10843fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10845	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.49																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32527-32529)tcafs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049102_9049103insA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32529dupT	19.37:g.9049109_9049109dupA	ENSP00000381008:p.Phe10843fs						p.S10843fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32731_32732	-			10845			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.32528_32529insT	CCDS54212.1																																																																																				0.490	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	1295						9	1295	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctctfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.53																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23134-23139)ccctccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064309_9064310insG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23137dupC	19.37:g.9064316_9064316dupG	ENSP00000381008:p.Ser7713fs						p.S7713fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23339_23340	-			7715			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.23136_23137insC	CCDS54212.1																																																																																				0.530	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	492						16	492	---	---	---	---
ZNF561	93134	broad.mit.edu	37	19	9727836	9727838	+	In_Frame_Del	DEL	CGT	CGT	-	rs201340844|rs200486363	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:9727836_9727838delCGT	ENST00000302851.3	-	4	487_489	c.124_126delACG	c.(124-126)acgdel	p.T42del	ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000326044.5_In_Frame_Del_p.T42del|ZNF561_ENST00000354661.4_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CATCATCAAACGTCACTGAATCC	0.443																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(124-126)del		zinc finger protein 561																																				SO:0001651	inframe_deletion	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9727836_9727838delCGT	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.124_126delACG	19.37:g.9727836_9727838delCGT	ENSP00000303915:p.Thr42del					ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000326044.5_In_Frame_Del_p.T42del	p.T42del	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			4	487_489	-			42			KRAB.		B4E2Q8|Q6PJS0	In_Frame_Del	DEL	ENST00000302851.3	37	c.124_126delACG	CCDS12216.2																																																																																				0.443	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		43	69						43	69	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:10204185_10204186insC	ENST00000253109.4	-	5	1299_1300	c.1061_1062insG	c.(1060-1062)ggcfs	p.G354fs	ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.G314fs|ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.G354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	354	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTGCTCCACGGCCCCCCCAGTC	0.639																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(1060-1062)gcgfs		angiopoietin-like 6																																				SO:0001589	frameshift_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204185_10204186insC	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1062dupG	19.37:g.10204192_10204192dupC	ENSP00000253109:p.Gly354fs					ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs	p.A354fs	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1299_1300	-			354			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Frame_Shift_Ins	INS	ENST00000253109.4	37	c.1061_1062insG	CCDS12224.1																																																																																				0.639	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		7	70						7	70	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(385-390)ccaaccfs		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)																																			SO:0001589	frameshift_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10291083_10291084insG	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.388dupC	19.37:g.10291090_10291090dupG	ENSP00000345739:p.Lys130fs					DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		4	622_623	-			130			Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Frame_Shift_Ins	INS	ENST00000340748.4	37	c.387_388insC	CCDS12228.1																																																																																				0.495	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		37	679						37	679	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G	rs373614901		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccacgfs	p.T1106fs	TYK2_ENST00000524462.1_Frame_Shift_Ins_p.T921fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.T1106fs|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3313-3318)cccgaafs		tyrosine kinase 2																																				SO:0001589	frameshift_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463112_10463113insG		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3316dupC	19.37:g.10463119_10463119dupG	ENSP00000431885:p.Thr1106fs					TYK2_ENST00000264818.6_Frame_Shift_Ins_p.E1106fs|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.E921fs|TYK2_ENST00000529422.1_Intron	p.E1106fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		23	3796_3797	-			1106			Protein kinase 2.		Q6QB10|Q96CH0	Frame_Shift_Ins	INS	ENST00000525621.1	37	c.3315_3316insC	CCDS12236.1																																																																																				0.599	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			14	164						14	164	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			19	1479						19	1479	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T	rs375738139		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:12155708_12155709insT	ENST00000547628.1	-	4	644_645	c.507_508insA	c.(505-510)aaacccfs	p.P170fs	ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P217fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	170					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						CATTCATAGGGTTTTTTTGCAG	0.411																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(646-651)aacctafs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155708_12155709insT		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.508dupA	19.37:g.12155715_12155715dupT	ENSP00000447931:p.Pro170fs					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs	p.NL216fs			C9JN71	ZN878_HUMAN			5	647_648	-			169						Frame_Shift_Ins	INS	ENST00000547628.1	37	c.648_649insA	CCDS45984.2																																																																																				0.411	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		22	666						22	666	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15996865	15996866	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:15996865_15996866insG	ENST00000221700.6	-	9	1081		c.e9-2		CYP4F2_ENST00000011989.7_Splice_Site	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCATGGCCTGGGGGGCAGCA	0.629																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e9-2		cytochrome P450, family 4, subfamily F, polypeptide 2																																				SO:0001630	splice_region_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15996865_15996866insG	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.986-2->C	19.37:g.15996871_15996871dupG						CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			9	1081	-									Splice_Site	INS	ENST00000221700.6	37		CCDS12336.1																																																																																				0.629	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	Intron	7	500						7	500	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs						p.S1052fs	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		8	139						8	139	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs					MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		12	177						12	177	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769061_31769062insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs						p.V546fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		24	402						24	402	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)gggcttfs	p.L520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.5																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1555-1560)ggttgafs		teashirt zinc finger homeobox 3																																				SO:0001589	frameshift_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769141_31769142insC	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1558dupG	19.37:g.31769148_31769148dupC	ENSP00000240587:p.Leu520fs						p.*520fs	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1884_1885	-	Esophageal squamous(110;0.226)		520					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1557_1558insG	CCDS12421.2																																																																																				0.500	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		15	568						15	568	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35749877	35749878	+	Frame_Shift_Ins	INS	-	-	G	rs374784835		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:35749877_35749878insG	ENST00000361790.3	+	3	787_788	c.628_629insG	c.(628-630)tggfs	p.W210fs	LSR_ENST00000347609.4_Frame_Shift_Ins_p.W173fs|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Frame_Shift_Ins_p.W210fs|LSR_ENST00000602122.1_Frame_Shift_Ins_p.W210fs|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Frame_Shift_Ins_p.W210fs	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	210	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGACGGCGTGGGGGGACAGT	0.614																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(628-630)gggfs		lipolysis stimulated lipoprotein receptor																																				SO:0001589	frameshift_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35749877_35749878insG	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.634dupG	19.37:g.35749883_35749883dupG	ENSP00000354575:p.Trp210fs					LSR_ENST00000360798.3_Frame_Shift_Ins_p.G210fs|LSR_ENST00000361790.3_Frame_Shift_Ins_p.G210fs|LSR_ENST00000347609.4_Frame_Shift_Ins_p.G173fs|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000354900.3_Frame_Shift_Ins_p.G210fs|LSR_ENST00000427250.1_Intron	p.G210fs			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	1115_1116	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		210			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Frame_Shift_Ins	INS	ENST00000361790.3	37	c.628_629insG	CCDS12450.1																																																																																				0.614	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		7	281						7	281	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			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_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	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		7	309						7	309	---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36508595	36508596	+	Frame_Shift_Ins	INS	-	-	G	rs149870756|rs200428053	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:36508595_36508596insG	ENST00000360535.4	-	11	1639_1640	c.1412_1413insC	c.(1411-1413)ccgfs	p.P471fs	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Frame_Shift_Ins_p.P471fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	471	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.P471Q(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCCATGCCTCGGGGGGCAAGT	0.604																																						ENST00000360535.4																			1	Substitution - Missense(1)	p.P471Q(1)	lung(1)	cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1411-1413)cagfs		CAP-GLY domain containing linker protein 3																																				SO:0001589	frameshift_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508595_36508596insG	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1413dupC	19.37:g.36508601_36508601dupG	ENSP00000353732:p.Pro471fs					CLIP3_ENST00000593074.1_Frame_Shift_Ins_p.Q471fs|AC002116.7_ENST00000586962.1_RNA	p.Q471fs	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		11	1639_1640	-	Esophageal squamous(110;0.162)		471			CAP-Gly 2.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Frame_Shift_Ins	INS	ENST00000360535.4	37	c.1412_1413insC	CCDS12486.1																																																																																				0.604	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		10	186						10	186	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G	rs375117067		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)cccggcfs	p.G150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(445-450)ccgcacfs		Fc fragment of IgG binding protein																																				SO:0001589	frameshift_variant	8857					extracellular region	protein binding	g.chr19:40433821_40433822insG	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.448dupC	19.37:g.40433827_40433827dupG	ENSP00000221347:p.Gly150fs						p.H150fs	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	454_455	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		150			IgGFc-binding.		O95784	Frame_Shift_Ins	INS	ENST00000221347.6	37	c.447_448insC	CCDS12546.1																																																																																				0.604	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	427						10	427	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)cccaggfs	p.R158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.R91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-474)ccggcgfs		chromosome 19 open reading frame 47																																				SO:0001589	frameshift_variant	126526							g.chr19:40834398_40834399insG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.472dupC	19.37:g.40834404_40834404dupG	ENSP00000463159:p.Arg158fs					C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	p.A158fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483_484	-			158					Q8IZ33|Q8N0V9	Frame_Shift_Ins	INS	ENST00000582783.1	37	c.471_472insC	CCDS58662.1																																																																																				0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		10	896						10	896	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccacgfs	p.T381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165). {ECO:0000269|PubMed:17344846}.		histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1138-1143)cccgccfs		homeodomain interacting protein kinase 4																																				SO:0001589	frameshift_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886757_40886758insG	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1141dupC	19.37:g.40886763_40886763dupG	ENSP00000291823:p.Thr381fs						p.A381fs	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1424_1425	-			381		T -> M (in dbSNP:rs55760165).			A8K863|Q96M54	Frame_Shift_Ins	INS	ENST00000291823.2	37	c.1140_1141insC	CCDS12555.1																																																																																				0.658	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		10	735						10	735	---	---	---	---
CCDC97	90324	broad.mit.edu	37	19	41825517	41825518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:41825517_41825518insC	ENST00000269967.3	+	3	663_664	c.541_542insC	c.(541-543)gccfs	p.A181fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	181										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCGGTTCCGGGCCCCCCTGCTA	0.644																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(541-543)cccfs		coiled-coil domain containing 97																																				SO:0001589	frameshift_variant	90324							g.chr19:41825517_41825518insC	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.547dupC	19.37:g.41825523_41825523dupC	ENSP00000269967:p.Ala181fs						p.P181fs	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			3	663_664	+			181					Q658N6|Q96IF3	Frame_Shift_Ins	INS	ENST00000269967.3	37	c.541_542insC	CCDS12578.1																																																																																				0.644	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		7	1210						7	1210	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs					CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		9	323						9	323	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:42866542_42866543insC	ENST00000251268.6	+	34	5851_5852	c.5851_5852insC	c.(5851-5853)accfs	p.T1951fs	MEGF8_ENST00000334370.4_Frame_Shift_Ins_p.T1884fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 5.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5650-5652)cccfs		multiple EGF-like-domains 8																																				SO:0001589	frameshift_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866542_42866543insC	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5857dupC	19.37:g.42866548_42866548dupC	ENSP00000251268:p.Thr1951fs					MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	p.P1884fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			33	6285_6286	+		Prostate(69;0.00682)	1951			PSI 4.		A8KAY0|O75097	Frame_Shift_Ins	INS	ENST00000251268.6	37	c.5650_5651insC																																																																																					0.614	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		9	368						9	368	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		20	1225						20	1225	---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44284860	44284861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:44284860_44284861insC	ENST00000262888.3	-	1	548_549	c.153_154insG	c.(151-156)gggtgcfs	p.C52fs		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	52					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)	CTCACCGAGCACCCCCCGAACC	0.653																																						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.(151-156)gggctcfs		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)																																			SO:0001589	frameshift_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44284860_44284861insC	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.154dupG	19.37:g.44284866_44284866dupC	ENSP00000262888:p.Cys52fs						p.L52fs	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			1	548_549	-		Prostate(69;0.0352)	52					Q53XR4	Frame_Shift_Ins	INS	ENST00000262888.3	37	c.153_154insG	CCDS12630.1																																																																																				0.653	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		9	310						9	310	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:45556128_45556129insC	ENST00000221455.3	+	4	375_376	c.277_278insC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000544944.2_Frame_Shift_Ins_p.T93fs|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614																																						ENST00000544944.2																			1	Insertion - Frameshift(1)	p.L96fs*17(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(277-279)cccfs		CLK4-associating serine/arginine rich protein																																				SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556128_45556129insC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.284dupC	19.37:g.45556135_45556135dupC	ENSP00000221455:p.Thr93fs					CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron	p.P93fs			Q8N2M8	CLASR_HUMAN			3	969_970	+			93					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Ins	INS	ENST00000221455.3	37	c.277_278insC	CCDS12652.2																																																																																				0.614	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		9	316						9	316	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:46663998_46663999insC	ENST00000377693.4	+	3	237_238	c.201_202insC	c.(202-204)cccfs	p.P68fs	IGFL2_ENST00000434646.2_Frame_Shift_Ins_p.P79fs|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	68						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(232-237)ggccccfs		IGF-like family member 2																																				SO:0001589	frameshift_variant	147920					extracellular region	protein binding	g.chr19:46663998_46663999insC	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.207dupC	19.37:g.46664004_46664004dupC	ENSP00000366922:p.Pro68fs					IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	p.GP78fs	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	4	525_526	+		Ovarian(192;0.0908)|all_neural(266;0.113)	67					E9PAV1|Q6B9Z3	Frame_Shift_Ins	INS	ENST00000377693.4	37	c.234_235insC	CCDS46121.1																																																																																				0.554	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		7	1350						7	1350	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs					CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs	p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		12	329						12	329	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(889-891)gaafs		family with sequence similarity 83, member E																																				SO:0001589	frameshift_variant	54854							g.chr19:49107037_49107038insG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs						p.E297fs	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1078_1079	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					Q9NXK1	Frame_Shift_Ins	INS	ENST00000263266.3	37	c.889_890insC	CCDS42587.1																																																																																				0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		8	57						8	57	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49377485	49377486	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:49377485_49377486insC	ENST00000200453.5	+	2	1264_1265	c.995_996insC	c.(994-999)atccccfs	p.IP332fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	332	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTCCCTGCATCCCCCCACCAA	0.564																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(994-996)accfs		protein phosphatase 1, regulatory subunit 15A																																				SO:0001589	frameshift_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377485_49377486insC	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1001dupC	19.37:g.49377491_49377491dupC	ENSP00000200453:p.Ile332fs						p.T332fs	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1264_1265	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	332			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Ins	INS	ENST00000200453.5	37	c.995_996insC	CCDS12738.1																																																																																				0.564	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	493						10	493	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)cggfs	p.R102fs	CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.R102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(304-306)gggfs		carnitine palmitoyltransferase 1C																																				SO:0001589	frameshift_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50203963_50203964insG	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.310dupG	19.37:g.50203969_50203969dupG	ENSP00000376303:p.Arg102fs					CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs	p.G102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	5	676_677	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	102					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Frame_Shift_Ins	INS	ENST00000392518.4	37	c.304_305insG	CCDS12779.1																																																																																				0.673	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		8	521						8	521	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	187						7	187	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.A681S(1)	lung(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2041-2043)caafs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192459_51192460insC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2042dupG	19.37:g.51192465_51192465dupC	ENSP00000293441:p.Ala681fs					SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs	p.Q681fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2059_2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.2041_2042insG	CCDS12799.1																																																																																				0.609	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		10	476						10	476	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs						p.P353fs	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			8	305						8	305	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs					KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		19	418						19	418	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(853-855)gggfs	p.G285fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	285					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(850-855)tgggggfs		zinc finger protein 175																																				SO:0001589	frameshift_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090436_52090437insG	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.858dupG	19.37:g.52090442_52090442dupG	ENSP00000262259:p.Gly285fs					ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1210_1211	+		all_neural(266;0.0299)	284					A8K9H2	Frame_Shift_Ins	INS	ENST00000262259.2	37	c.852_853insG	CCDS12837.1																																																																																				0.441	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		7	587						7	587	---	---	---	---
TPM3P9	147804	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555|rs398101275	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:53946133delA	ENST00000424846.3	+	0	1130				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		TCATGTTGTGAAAAAAAAAAT	0.348													|||unknown(HR)	3191	0.637181	0.6241	0.6614	5008	,	,		21949	0.4008		0.7127	False		,,,				2504	0.8037					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53946133delA			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53946133delA						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	DEL	ENST00000424846.3	37																																																																																						0.348	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		5	3						5	3	---	---	---	---
MIR520E	574461	broad.mit.edu	37	19	54177507	54177508	+	RNA	DEL	TA	TA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:54177507_54177508delTA	ENST00000384867.1	+	0	0				MIR1323_ENST00000408090.1_RNA|MIR498_ENST00000385134.1_RNA	NR_030183.1				microRNA 520e																		GGCGTTTTTCTATAACTGGATG	0.45																																						ENST00000385134.1																			0																																																			574460							g.chr19:54177507_54177508delTA			19q13.42	2011-09-12		2008-12-18	ENSG00000207599	ENSG00000207599		"""ncRNAs / Micro RNAs"""	32093	non-coding RNA	RNA, micro				MIRN520E			Standard	NR_030183		Approved	hsa-mir-520e	uc021uzn.1				19.37:g.54177509_54177510delTA								NR_030182.1						0	57_58	+									RNA	DEL	ENST00000384867.1	37																																																																																						0.450	MIR520E-201	KNOWN	basic	miRNA	miRNA		NR_030183		30	293						30	293	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55331443	55331443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:55331443delG	ENST00000391728.4	+	4	664	c.631delG	c.(631-633)gatfs	p.D211fs	KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.D116fs	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	211					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCTCCCAGTGATCCCCTGGA	0.532																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(631-633)atfs		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							112.0	94.0	100.0					19																	55331443		2183	4145	6328	SO:0001589	frameshift_variant	3811							g.chr19:55331443delG	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.631delG	19.37:g.55331443delG	ENSP00000375608:p.Asp211fs					KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.D116fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.D211fs	p.D211fs	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	664	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000391728.4	37	c.631delG	CCDS42621.1																																																																																				0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		8	1513						8	1513	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55800871	55800872	+	Frame_Shift_Ins	INS	-	-	G	rs142000353		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:55800871_55800872insG	ENST00000309383.1	+	4	618_619	c.341_342insG	c.(340-345)tcggggfs	p.SG114fs	BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.SG130fs|BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.SG114fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAGCACGTCTCGGGGGGTGAGC	0.589																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(340-342)tggfs		BR serine/threonine kinase 1																																				SO:0001589	frameshift_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55800871_55800872insG	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.347dupG	19.37:g.55800877_55800877dupG	ENSP00000310649:p.Ser114fs					BRSK1_ENST00000585418.1_Frame_Shift_Ins_p.W114fs|BRSK1_ENST00000590333.1_Frame_Shift_Ins_p.W130fs	p.W114fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	4	618_619	+		Renal(1328;0.245)	114			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Frame_Shift_Ins	INS	ENST00000309383.1	37	c.341_342insG	CCDS12921.1																																																																																				0.589	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	219						7	219	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs					NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		21	551						21	551	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs					NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs	p.G266fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		8	517						8	517	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1714-1719)ggcccafs		FAST kinase domains 5			,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128000_3128001insC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs					UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	p.GP572fs	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	2037_2038	-			572					Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	ENST00000380266.3	37	c.1716_1717insG	CCDS13048.1																																																																																				0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		19	291						19	291	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673																																						ENST00000305958.4																			1	Substitution - Missense(1)	p.R301W(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(901-903)gggfs		spermine oxidase	Spermine(DB00127)																																			SO:0001589	frameshift_variant	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163027_4163028insG	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.908dupG	20.37:g.4163034_4163034dupG	ENSP00000307252:p.Arg301fs					SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron	p.G301fs	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1126_1127	+			301		R -> P (in dbSNP:rs6084654).			A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Frame_Shift_Ins	INS	ENST00000305958.4	37	c.901_902insG	CCDS13075.1																																																																																				0.673	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		9	135						9	135	---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13260474	13260475	+	Frame_Shift_Ins	INS	-	-	C	rs184602094|rs538119716	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:13260474_13260475insC	ENST00000262487.4	+	3	578_579	c.572_573insC	c.(571-576)aaccccfs	p.NP191fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	191						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGGG	0.554																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(571-573)accfs		isthmin 1, angiogenesis inhibitor																																				SO:0001589	frameshift_variant	140862					extracellular region		g.chr20:13260474_13260475insC	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.579dupC	20.37:g.13260481_13260481dupC	ENSP00000262487:p.Asn191fs					TASP1_ENST00000539805.1_Intron	p.T191fs	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			3	578_579	+			191					Q8WVH9	Frame_Shift_Ins	INS	ENST00000262487.4	37	c.572_573insC	CCDS46579.1																																																																																				0.554	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			11	248						11	248	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)gaafs		cystatin S																																				SO:0001589	frameshift_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667825_23667826insC		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.242dupG	20.37:g.23667832_23667832dupC	ENSP00000217423:p.Val81fs						p.E81fs	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			2	311_312	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		81					Q9UBI5|Q9UCS9	Frame_Shift_Ins	INS	ENST00000217423.3	37	c.241_242insG	CCDS13159.1																																																																																				0.554	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		15	385						15	385	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33508359	33508360	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:33508359_33508360insG	ENST00000360596.2	+	9	1201_1202	c.990_991insG	c.(991-993)gggfs	p.G331fs	ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.G281fs|ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.G344fs|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	331					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCACACAGTTGGGGGCTACAT	0.53																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(988-993)gtggggfs		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33508359_33508360insG	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.995dupG	20.37:g.33508364_33508364dupG	ENSP00000353804:p.Gly331fs					ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.VG343fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.VG280fs	p.VG330fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			9	1201_1202	+			330					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Frame_Shift_Ins	INS	ENST00000360596.2	37	c.990_991insG	CCDS13243.1																																																																																				0.530	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		9	559						9	559	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs					CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR	p.P555fs							12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		9	1224						9	1224	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35443591	35443592	+	Frame_Shift_Ins	INS	-	-	G	rs561942033	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:35443591_35443592insG	ENST00000357779.3	-	5	1865_1866	c.1539_1540insC	c.(1537-1542)cccttgfs	p.PL513fs	SOGA1_ENST00000279034.6_Frame_Shift_Ins_p.PL513fs|SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.PL354fs|SOGA1_ENST00000237536.4_Frame_Shift_Ins_p.PL751fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	513					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGGGAGCCCAAGGGGGGCAGTG	0.535																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2251-2256)cctgggfs		suppressor of glucose, autophagy associated 1																																				SO:0001589	frameshift_variant	140710							g.chr20:35443591_35443592insG	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1540dupC	20.37:g.35443597_35443597dupG	ENSP00000350424:p.Pro513fs					SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.G514fs|SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G355fs	p.G752fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2594_2595	-			514					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Ins	INS	ENST00000357779.3	37	c.2253_2254insC																																																																																					0.535	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		8	661						8	661	---	---	---	---
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1609-1611)cccfs	p.P537fs	RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Frame_Shift_Ins_p.P505fs	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	537					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1606-1611)agccccfs		ribophorin II																																				SO:0001589	frameshift_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35860725_35860726insC	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1614dupC	20.37:g.35860731_35860731dupC	ENSP00000237530:p.Pro537fs					RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	p.SP536fs	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			14	1919_1920	+		Myeloproliferative disorder(115;0.00878)	536					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Frame_Shift_Ins	INS	ENST00000237530.6	37	c.1608_1609insC	CCDS13291.1																																																																																				0.574	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		11	849						11	849	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446																																						ENST00000262879.6																			1	Insertion - Frameshift(1)	p.H382fs*2(1)	lung(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1135-1137)cccfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146232_37146233insC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1142dupC	20.37:g.37146239_37146239dupC	ENSP00000262879:p.Thr379fs					RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs	p.P379fs			Q86X10	RLGPB_HUMAN			8	1419_1420	+			379					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.1135_1136insC	CCDS13305.1																																																																																				0.446	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	209						10	209	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs						p.CP208fs	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		35	571						35	571	---	---	---	---
MYBL2	4605	broad.mit.edu	37	20	42344628	42344629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:42344628_42344629insG	ENST00000217026.4	+	14	2131_2132	c.2004_2005insG	c.(2005-2007)gggfs	p.G669fs	MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.G645fs	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	669					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G669W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGTGGCCTGCGGGGGGACCAG	0.624																																						ENST00000217026.4																			1	Substitution - Missense(1)	p.G669W(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(2002-2007)tgggggfs		v-myb avian myeloblastosis viral oncogene homolog-like 2																																				SO:0001589	frameshift_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42344628_42344629insG		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2010dupG	20.37:g.42344634_42344634dupG	ENSP00000217026:p.Gly669fs					MYBL2_ENST00000396863.4_Frame_Shift_Ins_p.WG644fs	p.WG668fs	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	2131_2132	+		Myeloproliferative disorder(115;0.00452)	668					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Frame_Shift_Ins	INS	ENST00000217026.4	37	c.2004_2005insG	CCDS13322.1																																																																																				0.624	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		7	387						7	387	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)cccaatfs	p.N103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535																																					GBM(64;162 1089 31780 33427 34538)	ENST00000338380.2																			0				lung(3)|ovary(1)	4						c.(304-309)ccatttfs		secretory leukocyte peptidase inhibitor																																				SO:0001589	frameshift_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43881730_43881731insG	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.307dupC	20.37:g.43881737_43881737dupG	ENSP00000342082:p.Asn103fs						p.F103fs	NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN			3	326_327	-		Myeloproliferative disorder(115;0.0122)	103			Elastase inhibitory domain.|WAP 2.		B2R5H8|P07757	Frame_Shift_Ins	INS	ENST00000338380.2	37	c.306_307insC	CCDS13347.1																																																																																				0.535	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			31	415						31	415	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccaccfs	p.T426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1273-1278)cccctcfs		nuclear receptor coactivator 5																																				SO:0001589	frameshift_variant	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691403_44691404insG		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1276dupC	20.37:g.44691409_44691409dupG	ENSP00000290231:p.Thr426fs						p.L426fs	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1439_1440	-		Myeloproliferative disorder(115;0.0122)	426					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Frame_Shift_Ins	INS	ENST00000290231.6	37	c.1275_1276insC	CCDS13392.1																																																																																				0.619	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		7	487						7	487	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	465					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604																																						ENST00000279027.4																			1	Substitution - coding silent(1)	p.P464P(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1390-1395)ccccctfs		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)																																			SO:0001589	frameshift_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194969_45194970insG	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1393dupC	20.37:g.45194975_45194975dupG	ENSP00000279027:p.Ala465fs					SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			11	1410_1411	-		Myeloproliferative disorder(115;0.0122)	464					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Frame_Shift_Ins	INS	ENST00000279027.4	37	c.1392_1393insC	CCDS13400.1																																																																																				0.604	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			10	650						10	650	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs						p.PK775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		48	1291						48	1291	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCAGGAGACCGGGGGGGTGTC	0.559																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)gtcfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989890_47989891insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2207dupC	20.37:g.47989897_47989897dupG	ENSP00000360806:p.Arg736fs						p.V736fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372_2373	-			736					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2206_2207insC	CCDS13418.1																																																																																				0.559	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		11	353						11	353	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48522802	48522803	+	Frame_Shift_Ins	INS	-	-	G	rs201505755	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:48522802_48522803insG	ENST00000422556.1	-	3	1265_1266	c.916_917insC	c.(916-918)cacfs	p.H306fs	SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.H306fs|SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.H169fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGGCTGCCGTGGGGGGAGCTG	0.644																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(916-918)cggfs		spermatogenesis associated 2																																				SO:0001589	frameshift_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522802_48522803insG	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.917dupC	20.37:g.48522808_48522808dupG	ENSP00000416799:p.His306fs					SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.R169fs|SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.R306fs	p.R306fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1265_1266	-	Hepatocellular(150;0.133)		306					E1P626|O94857	Frame_Shift_Ins	INS	ENST00000422556.1	37	c.916_917insC	CCDS13422.1																																																																																				0.644	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		8	294						8	294	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs					SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs|SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs	p.S995fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	239						7	239	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs					ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000361387.2_Intron	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		11	159						11	159	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889663	58889666	+	lincRNA	DEL	CATC	CATC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:58889663_58889666delCATC	ENST00000432910.1	+	0	332					NR_046099.1																						ttctcccattcatccatcctccca	0.539																																						ENST00000432910.1																			0																																																			284757							g.chr20:58889663_58889666delCATC																													20.37:g.58889667_58889670delCATC								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.539	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs						p.PK1092fs	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	544						9	544	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs					PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs	p.I226fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			14	1190						14	1190	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45987772	45987773	+	Frame_Shift_Ins	INS	-	-	G	rs587631627		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:45987772_45987773insG	ENST00000323084.4	-	2	264_265	c.199_200insC	c.(199-201)cgcfs	p.R67fs	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	67	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCTCATGGTGCGGGGGGCGGCT	0.564																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(199-201)cacfs		thrombospondin-type laminin G domain and EAR repeats																																				SO:0001589	frameshift_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45987772_45987773insG	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.200dupC	21.37:g.45987778_45987778dupG	ENSP00000321987:p.Arg67fs					TSPEAR_ENST00000397916.1_5'UTR	p.H67fs	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			2	264_265	-			67						Frame_Shift_Ins	INS	ENST00000323084.4	37	c.199_200insC	CCDS13712.1																																																																																				0.564	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		8	266						8	266	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs					MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA	p.N1463fs			O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		15	1027						15	1027	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs					CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs	p.E465fs			Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			9	531						9	531	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:18022285_18022286insC	ENST00000400585.2	+	16	2402_2403	c.1964_1965insC	c.(1963-1968)gtccccfs	p.VP655fs	CECR2_ENST00000262608.8_Frame_Shift_Ins_p.VP797fs|CECR2_ENST00000400573.5_Frame_Shift_Ins_p.VP796fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2389-2391)gccfs		cat eye syndrome chromosome region, candidate 2																																				SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022285_18022286insC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1971dupC	22.37:g.18022292_18022292dupC	ENSP00000383428:p.Val655fs					CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs|CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs	p.A797fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2390_2391	+		all_epithelial(15;0.139)	838					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Ins	INS	ENST00000400585.2	37	c.2390_2391insC																																																																																					0.609	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		19	295						19	295	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21134379	21134380	+	Frame_Shift_Ins	INS	-	-	A	rs76882693		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:21134379_21134380insA	ENST00000215727.5	+	2	1062_1063	c.779_780insA	c.(778-783)tcaaaafs	p.SK260fs	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.SK260fs|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	260					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	GCCTTCATATCAAAAACCAACA	0.436																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(778-780)taafs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134379_21134380insA	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.784dupA	22.37:g.21134384_21134384dupA	ENSP00000215727:p.Ser260fs					PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.*260fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	p.*260fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	1062_1063	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	260					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.779_780insA	CCDS13783.1																																																																																				0.436	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		8	1590						8	1590	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				AC002472.13_ENST00000543388.1_5'Flank|AC002472.11_ENST00000450652.1_RNA|P2RX6P_ENST00000439119.1_RNA																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered							NR_002829.1						0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				8	215						8	215	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs377142963|rs7410785	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:22661173_22661174insC	ENST00000426066.1	+	0	265_266					NR_027293.1				BMS1 pseudogene 20																		ATACAGGTTTTCCCCCCCCACC	0.406																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661173_22661174insC			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661181_22661181dupC								NR_027293.1						0	265_266	+									RNA	INS	ENST00000426066.1	37																																																																																						0.406	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			10	190						10	190	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-609)gtggggfs	p.VG202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(604-606)gggfs		guanine nucleotide binding protein (G protein), alpha z polypeptide																																				SO:0001589	frameshift_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438487_23438488insG		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.612dupG	22.37:g.23438494_23438494dupG	ENSP00000248996:p.Val202fs					RTDR1_ENST00000216036.4_Intron	p.G202fs	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1271_1272	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		202					B2R6C1|Q4QRJ6	Frame_Shift_Ins	INS	ENST00000248996.4	37	c.605_606insG	CCDS13804.1																																																																																				0.574	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		7	102						7	102	---	---	---	---
TPST2	8459	broad.mit.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)cccaacfs	p.N333fs	TPST2_ENST00000398110.2_Frame_Shift_Ins_p.N333fs|TPST2_ENST00000403880.1_Frame_Shift_Ins_p.N333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(994-999)ccactafs		tyrosylprotein sulfotransferase 2																																				SO:0001589	frameshift_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26932298_26932299insG	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.997dupC	22.37:g.26932305_26932305dupG	ENSP00000339813:p.Asn333fs					TPST2_ENST00000403880.1_Frame_Shift_Ins_p.L333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.L333fs	p.L333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			4	1266_1267	-			333					B3KQA7|Q6FI98|Q9H0V4	Frame_Shift_Ins	INS	ENST00000338754.4	37	c.996_997insC	CCDS13839.1																																																																																				0.584	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		11	195						11	195	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29708272	29708273	+	IGR	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:29708272_29708273insG	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000406549.3_Frame_Shift_Ins_p.MG384fs	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGCCCTGGCATGGGGGGGCCAC	0.678																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1150-1152)aggfs		growth arrest-specific 2 like 1																																				SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708272_29708273insG	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708279_29708279dupG						GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR	p.R384fs			Q99501	GA2L1_HUMAN			6	1301_1302	+			393					Q49AU5|Q6PI03	Frame_Shift_Ins	INS	ENST00000216101.6	37	c.1151_1152insG	CCDS13854.1																																																																																				0.678	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			10	154						10	154	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C	rs552962356		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1884)caccccfs	p.HP627fs	OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.HP260fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.HP626fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.HP578fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.HP461fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.HP454fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.HP369fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.HP171fs	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1879-1881)cccfs		oxysterol binding protein 2																																				SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31289119_31289120insC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1887dupC	22.37:g.31289126_31289126dupC	ENSP00000332576:p.His627fs					OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs	p.P627fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			9	1984_1985	+			627					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Ins	INS	ENST00000332585.6	37	c.1880_1881insC	CCDS43002.1																																																																																				0.594	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		8	95						8	95	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	32002365	32002366	+	Frame_Shift_Ins	INS	-	-	A	rs548693448		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:32002365_32002366insA	ENST00000400288.2	+	21	2211_2212	c.2106_2107insA	c.(2107-2109)aaafs	p.K703fs	SFI1_ENST00000432498.1_Frame_Shift_Ins_p.K672fs|SFI1_ENST00000443326.1_Frame_Shift_Ins_p.K621fs|SFI1_ENST00000400289.1_Frame_Shift_Ins_p.K621fs|SFI1_ENST00000443011.1_Frame_Shift_Ins_p.K550fs|SFI1_ENST00000540643.1_Frame_Shift_Ins_p.K648fs|SFI1_ENST00000414585.1_Frame_Shift_Ins_p.K550fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	703					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGATGAAGCCAAAAAAACCTT	0.51																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2011-2016)gcaaaafs		Sfi1 homolog, spindle assembly associated (yeast)																																				SO:0001589	frameshift_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32002365_32002366insA	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2113dupA	22.37:g.32002372_32002372dupA	ENSP00000383145:p.Lys703fs					SFI1_ENST00000443011.1_Frame_Shift_Ins_p.AK549fs|SFI1_ENST00000443326.1_Frame_Shift_Ins_p.AK620fs|SFI1_ENST00000540643.1_Frame_Shift_Ins_p.AK647fs|SFI1_ENST00000414585.1_Frame_Shift_Ins_p.AK549fs|SFI1_ENST00000400288.2_Frame_Shift_Ins_p.AK702fs|SFI1_ENST00000400289.1_Frame_Shift_Ins_p.AK620fs	p.AK671fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			20	2406_2407	+			702					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Ins	INS	ENST00000400288.2	37	c.2013_2014insA	CCDS43004.1																																																																																				0.510	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		7	182						7	182	---	---	---	---
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)gccfs	p.A199fs	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(595-597)cccfs		TIMP metallopeptidase inhibitor 3																																				SO:0001589	frameshift_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255323_33255324insC		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.602dupC	22.37:g.33255330_33255330dupC	ENSP00000266085:p.Ala199fs					SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.P199fs	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN			5	896_897	+			199					B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Frame_Shift_Ins	INS	ENST00000266085.6	37	c.595_596insC	CCDS13911.1																																																																																				0.604	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		7	120						7	120	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:37499435_37499436insG	ENST00000346753.3	-	2	165_166	c.49_50insC	c.(49-51)cagfs	p.Q17fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.Q17fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.Q8fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(22-24)ggtfs		transmembrane protease, serine 6																																				SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499435_37499436insG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.50dupC	22.37:g.37499441_37499441dupG	ENSP00000334962:p.Gln17fs					TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs	p.G8fs			Q8IU80	TMPS6_HUMAN			2	162_163	-			17					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Ins	INS	ENST00000346753.3	37	c.22_23insC	CCDS13941.1																																																																																				0.658	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		13	1037						13	1037	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-402)caccccfs		activating transcription factor 4																																				SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917950_39917951insC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs					ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1281_1282	+	Melanoma(58;0.04)		133					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.399_400insC	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		7	273						7	273	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		7	149						7	149	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		7	715						7	715	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)tccfs	p.S432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.52																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1294-1296)cccfs		sterol regulatory element binding transcription factor 2																																				SO:0001589	frameshift_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42271636_42271637insC	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1301dupC	22.37:g.42271643_42271643dupC	ENSP00000354476:p.Ser432fs						p.P432fs	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			7	1460_1461	+			432			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Ins	INS	ENST00000361204.4	37	c.1294_1295insC	CCDS14023.1																																																																																				0.520	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		18	548						18	548	---	---	---	---
FAM109B	150368	broad.mit.edu	37	22	42473376	42473377	+	Frame_Shift_Ins	INS	-	-	G	rs200775641	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:42473376_42473377insG	ENST00000321753.3	+	3	266_267	c.79_80insG	c.(79-81)tggfs	p.W27fs	SMDT1_ENST00000331479.3_5'Flank|snoU13_ENST00000458891.1_RNA	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	27	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGCGCACCTGGGGGGGCCCA	0.634																																						ENST00000321753.3																			0				endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						c.(79-81)gggfs		family with sequence similarity 109, member B																																				SO:0001589	frameshift_variant	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473376_42473377insG	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.86dupG	22.37:g.42473383_42473383dupG	ENSP00000312753:p.Trp27fs						p.G27fs	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN			3	266_267	+			27			PH.		Q3SXQ3|Q8N6L9	Frame_Shift_Ins	INS	ENST00000321753.3	37	c.79_80insG	CCDS33655.1																																																																																				0.634	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		9	172						9	172	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)gggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs					TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	500_501	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		34	991						34	991	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)gggaagfs	p.K477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.K279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559																																						ENST00000216264.8																			1	Deletion - Frameshift(1)	p.K477fs*>61(1)	ovary(1)	cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1426-1431)ggagaafs		ceramide kinase																																				SO:0001589	frameshift_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47086001_47086002insC	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.1429dupG	22.37:g.47086008_47086008dupC	ENSP00000216264:p.Lys477fs					CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs|CERK_ENST00000471929.1_5'UTR	p.E477fs	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	1540_1541	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	477					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Frame_Shift_Ins	INS	ENST00000216264.8	37	c.1428_1429insG	CCDS14077.1																																																																																				0.559	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		11	256						11	256	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(88-90)cccfs		TBC1 domain family, member 22A																																				SO:0001589	frameshift_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47188443_47188444insC	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.96dupC	22.37:g.47188450_47188450dupC	ENSP00000336724:p.His30fs					TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000380995.1_5'UTR	p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	2	255_256	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	30					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Frame_Shift_Ins	INS	ENST00000337137.4	37	c.89_90insC	CCDS14078.1																																																																																				0.569	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		31	1095						31	1095	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:11316741_11316742insC	ENST00000380714.3	+	5	286_287	c.218_219insC	c.(217-222)caccccfs	p.HP73fs	AMELX_ENST00000348912.4_Frame_Shift_Ins_p.HP57fs|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380712.3_Frame_Shift_Ins_p.HP87fs|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(259-261)cccfs		amelogenin, X-linked																																				SO:0001589	frameshift_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316741_11316742insC		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.224dupC	X.37:g.11316747_11316747dupC	ENSP00000370090:p.His73fs					AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron	p.P87fs	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			6	328_329	+			73					Q96NW6|Q9UCA7	Frame_Shift_Ins	INS	ENST00000380714.3	37	c.260_261insC	CCDS14144.1																																																																																				0.594	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		7	383						7	383	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)tggfs	p.W133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.W133fs	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	87						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(397-399)gggfs		carbonic anhydrase VB, mitochondrial																																				SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15790675_15790676insG	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.403dupG	X.37:g.15790681_15790681dupG	ENSP00000314099:p.Trp133fs					CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	p.G133fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN			4	533_534	+	Hepatocellular(33;0.183)		133					A6NEZ4	Frame_Shift_Ins	INS	ENST00000318636.3	37	c.397_398insG	CCDS14171.1																																																																																				0.495	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		13	695						13	695	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs					PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs	p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	665_666	+			131			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	ENST00000542554.1	37	c.393_394insC	CCDS14239.1																																																																																				0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		30	247						30	247	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:40982956_40982957insC	ENST00000324545.8	+	2	708_709	c.75_76insC	c.(76-78)cccfs	p.P26fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P26fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	26					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.54																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(73-78)caccccfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40982956_40982957insC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.82dupC	X.37:g.40982963_40982963dupC	ENSP00000316357:p.Pro26fs					USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			2	708_709	+			25	Q -> L (in Ref. 1; CAA66942).				O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.75_76insC	CCDS43930.1																																																																																				0.540	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		11	363						11	363	---	---	---	---
CFP	5199	broad.mit.edu	37	X	47485891	47485892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:47485891_47485892insC	ENST00000396992.3	-	7	1087_1088	c.967_968insG	c.(967-969)gagfs	p.E323fs	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Frame_Shift_Ins_p.E323fs|CFP_ENST00000247153.3_Frame_Shift_Ins_p.E323fs	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	323	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGGGCTCCACTCCCCCCACGAG	0.604																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(967-969)gtgfs		complement factor properdin																																				SO:0001589	frameshift_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485891_47485892insC	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.968dupG	X.37:g.47485897_47485897dupC	ENSP00000380189:p.Glu323fs					CFP_ENST00000396992.3_Frame_Shift_Ins_p.V323fs|CFP_ENST00000377005.2_Frame_Shift_Ins_p.V323fs	p.V323fs	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			8	1208_1209	-			323			TSP type-1 5.		O15134|O15135|O15136|O75826	Frame_Shift_Ins	INS	ENST00000396992.3	37	c.967_968insG	CCDS14282.1																																																																																				0.604	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		11	208						11	208	---	---	---	---
SSX1	6756	broad.mit.edu	37	X	48123305	48123306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48123305_48123306insC	ENST00000376919.3	+	6	555_556	c.419_420insC	c.(418-423)caccccfs	p.HP140fs		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AAACAACTGCACCCCCCAGGAA	0.436			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(418-420)cccfs		synovial sarcoma, X breakpoint 1																																				SO:0001589	frameshift_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48123305_48123306insC	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.425dupC	X.37:g.48123311_48123311dupC	ENSP00000366118:p.His140fs						p.P140fs	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			6	555_556	+			140					A3KN76|Q08AJ2|Q5JQ64	Frame_Shift_Ins	INS	ENST00000376919.3	37	c.419_420insC	CCDS14290.1																																																																																				0.436	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		8	597						8	597	---	---	---	---
SSX1	6756	broad.mit.edu	37	X	48125730	48125731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48125730_48125731insG	ENST00000376919.3	+	7	611_612	c.475_476insG	c.(475-477)aggfs	p.R159fs		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGACCCAAAAGGGGGAAACAT	0.49			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(475-477)gggfs		synovial sarcoma, X breakpoint 1				0,3721		0,0,1592,537						-0.1	0.0			239	1,6481		0,1,2356,1768	no	frameshift	SSX1	NM_005635.2		0,1,3948,2305	A1A1,A1R,RR,R		0.0154,0.0,0.0098				1,10202				SO:0001589	frameshift_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125730_48125731insG	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.480dupG	X.37:g.48125735_48125735dupG	ENSP00000366118:p.Arg159fs						p.G159fs	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			7	611_612	+			159					A3KN76|Q08AJ2|Q5JQ64	Frame_Shift_Ins	INS	ENST00000376919.3	37	c.475_476insG	CCDS14290.1																																																																																				0.490	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		7	1386						7	1386	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48159107_48159108insG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.49																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cggfs																																								280660							g.chrX:48159107_48159108insG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159113_48159113dupG						SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs							6	487_488	-									Frame_Shift_Ins	INS	ENST00000608568.1	37	c.425_426insC																																																																																					0.490	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		17	826						17	826	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs					SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		19	2428						19	2428	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			2	Substitution - Missense(2)	p.P142Q(2)	lung(2)	endometrium(3)|large_intestine(1)|lung(9)	13						c.(424-426)cggfs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48209462_48209463insG	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.426dupC	X.37:g.48209468_48209468dupG	ENSP00000298396:p.Pro142fs					SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN			6	477_478	-			142					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.425_426insC	CCDS14291.1																																																																																				0.495	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		24	1106						24	1106	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		15	54						15	54	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	849						10	849	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70321276	70321277	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:70321276_70321277insG	ENST00000374259.3	+	2	1528_1529	c.1196_1197insG	c.(1195-1200)ctggggfs	p.LG399fs	FOXO4_ENST00000341558.3_Frame_Shift_Ins_p.LG344fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	399					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTCTGTTGCTGGGGGGGCTTC	0.634																																						ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(1195-1197)cggfs		forkhead box O4																																				SO:0001589	frameshift_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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.chrX:70321276_70321277insG		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1203dupG	X.37:g.70321283_70321283dupG	ENSP00000363377:p.Leu399fs					FOXO4_ENST00000341558.3_Frame_Shift_Ins_p.R344fs	p.R399fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN			2	1528_1529	+	Renal(35;0.156)		399					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Frame_Shift_Ins	INS	ENST00000374259.3	37	c.1196_1197insG	CCDS43969.1																																																																																				0.634	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		7	84						7	84	---	---	---	---
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ccafs	p.P361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.P171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.P90fs|CXorf65_ENST00000374251.5_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(1081-1083)ctgfs		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)																																			SO:0001589	frameshift_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327613_70327614insG	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1083dupC	X.37:g.70327620_70327620dupG	ENSP00000363318:p.Pro361fs					IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	p.L361fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN			8	1173_1174	-	Renal(35;0.156)		361					Q5FC12	Frame_Shift_Ins	INS	ENST00000374202.2	37	c.1082_1083insC	CCDS14406.1																																																																																				0.584	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			7	108						7	108	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C	rs186832346		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)tccfs	p.S310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(928-930)cccfs		zinc finger, CCHC domain containing 12																																				SO:0001589	frameshift_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117960135_117960136insC	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.934dupC	X.37:g.117960141_117960141dupC	ENSP00000308921:p.Ser310fs						p.P310fs	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	1435_1436	+			310					B3KV48|Q6PID5|Q8N1C1	Frame_Shift_Ins	INS	ENST00000310164.2	37	c.928_929insC	CCDS14574.1																																																																																				0.564	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		10	655						10	655	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)ggtfs		MAP7 domain containing 3																																				SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314193_135314194insG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	p.G308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142_1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	c.922_923insC	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			28	466						28	466	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3688024	3688025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:3688024_3688025insC	ENST00000294600.2	+	12	1992_1993	c.1908_1909insC	c.(1909-1911)cccfs	p.P637fs	SMIM1_ENST00000561886.1_5'Flank|SMIM1_ENST00000444870.2_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	637										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.55																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1906-1911)gtccccfs		coiled-coil domain containing 27																																				SO:0001589	frameshift_variant	148870							g.chr1:3688024_3688025insC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1915dupC	1.37:g.3688031_3688031dupC	ENSP00000294600:p.Pro637fs						p.VP636fs	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	12	1992_1993	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	636					Q5TBV3|Q96M50	Frame_Shift_Ins	INS	ENST00000294600.2	37	c.1908_1909insC	CCDS50.1																																																																																				0.550	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		7	79						7	79	---	---	---	---
ANGPTL7	10218	broad.mit.edu	37	1	11249984	11249984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:11249984delA	ENST00000376819.3	+	1	587	c.348delA	c.(346-348)gcafs	p.A117fs	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	117					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTGCAGGCAGCACAGACGG	0.562																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(346-348)gcfs		angiopoietin-like 7							79.0	73.0	75.0					1																	11249984		2203	4300	6503	SO:0001589	frameshift_variant	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249984delA	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.348delA	1.37:g.11249984delA	ENSP00000366015:p.Ala117fs					MTOR_ENST00000361445.4_Intron	p.A117fs	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	587	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	117					B2R9B2|F1T0A6|Q4ZGK4	Frame_Shift_Del	DEL	ENST00000376819.3	37	c.348delA	CCDS128.1																																																																																				0.562	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		36	172						36	172	---	---	---	---
ATP13A2	23400	broad.mit.edu	37	1	17316725	17316726	+	Frame_Shift_Ins	INS	-	-	G	rs77630788		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:17316725_17316726insG	ENST00000326735.8	-	21	2341_2342	c.2308_2309insC	c.(2308-2310)cagfs	p.Q770fs	ATP13A2_ENST00000452699.1_Frame_Shift_Ins_p.Q765fs|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Frame_Shift_Ins_p.Q765fs			Q9NQ11	AT132_HUMAN	ATPase type 13A2	770					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGATGCTCCTGGGGGGCCACC	0.658																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2293-2295)ggafs		ATPase type 13A2																																				SO:0001589	frameshift_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17316725_17316726insG	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2309dupC	1.37:g.17316731_17316731dupG	ENSP00000327214:p.Gln770fs					ATP13A2_ENST00000341676.5_Frame_Shift_Ins_p.G765fs|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Frame_Shift_Ins_p.G770fs	p.G765fs	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	21	2482_2483	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	770					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Frame_Shift_Ins	INS	ENST00000326735.8	37	c.2293_2294insC	CCDS175.1																																																																																				0.658	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		10	570						10	570	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		6	11						6	11	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-102)ctccccfs	p.LP33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(97-99)cccfs		immunoglobin superfamily, member 21																																				SO:0001589	frameshift_variant	84966					extracellular region		g.chr1:18554419_18554420insC	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.104dupC	1.37:g.18554425_18554425dupC	ENSP00000251296:p.Leu33fs						p.P33fs	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	2	481_482	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	33			Ig-like 1.		Q8NBR8	Frame_Shift_Ins	INS	ENST00000251296.1	37	c.98_99insC	CCDS184.1																																																																																				0.574	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		7	387						7	387	---	---	---	---
RSRP1	57035	broad.mit.edu	37	1	25573155	25573160	+	In_Frame_Del	DEL	GAACCC	GAACCC	-	rs201238140		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:25573155_25573160delGAACCC	ENST00000243189.7	-	2	571_576	c.295_300delGGGTTC	c.(295-300)gggttcdel	p.GF99del	RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del|C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		99	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCCTGGTGAACCCGTAGCGCCTC	0.67																																						ENST00000243189.7																			0				breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(295-300)del		chromosome 1 open reading frame 63																																				SO:0001651	inframe_deletion	57035							g.chr1:25573155_25573160delGAACCC																												ENST00000243189.7:c.295_300delGGGTTC	1.37:g.25573155_25573160delGAACCC	ENSP00000243189:p.Gly99_Phe100del					C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del|C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del	p.GF99del	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	571_576	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	99			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	In_Frame_Del	DEL	ENST00000243189.7	37	c.295_300delGGGTTC	CCDS260.1																																																																																				0.670	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			11	71						11	71	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43223458	43223459	+	Frame_Shift_Ins	INS	-	-	G	rs548639069|rs559371057	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:43223458_43223459insG	ENST00000296388.5	-	5	1126_1127	c.1075_1076insC	c.(1075-1077)cgtfs	p.R359fs	LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.R359fs|LEPRE1_ENST00000236040.4_Frame_Shift_Ins_p.R359fs			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	359					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.R359S(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCACCTCACGGGGGCCGATG	0.535											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000236040.4																			2	Substitution - Missense(2)	p.R359S(2)	lung(2)	large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26						c.(1075-1077)tgafs		leucine proline-enriched proteoglycan (leprecan) 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43223458_43223459insG	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1076dupC	1.37:g.43223463_43223463dupG	ENSP00000296388:p.Arg359fs		OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914	LEPRE1_ENST00000296388.5_Frame_Shift_Ins_p.*359fs|LEPRE1_ENST00000397054.3_Frame_Shift_Ins_p.*359fs	p.*359fs	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN			5	1115_1116	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	359					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Frame_Shift_Ins	INS	ENST00000296388.5	37	c.1075_1076insC	CCDS472.2																																																																																				0.535	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		7	1205						7	1205	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46180107	46180115	+	In_Frame_Del	DEL	ATTGCTGAT	ATTGCTGAT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:46180107_46180115delATTGCTGAT	ENST00000396478.3	-	8	1435_1443	c.1333_1341delATCAGCAAT	c.(1333-1341)atcagcaatdel	p.ISN445del	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	445						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)					CTATTCCTTCATTGCTGATGCCCCCAATT	0.388																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1333-1341)del		intracisternal A particle-promoted polypeptide																																				SO:0001651	inframe_deletion	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46180107_46180115delATTGCTGAT	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.1333_1341delATCAGCAAT	1.37:g.46180107_46180115delATTGCTGAT	ENSP00000379739:p.Ile445_Asn447del						p.ISN445del	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			8	1435_1443	-	Acute lymphoblastic leukemia(166;0.155)		445					A2A6V4|D3DQ11|Q8N5C3	In_Frame_Del	DEL	ENST00000396478.3	37	c.1333_1341delATCAGCAAT	CCDS30702.1																																																																																				0.388	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		18	52						18	52	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038815	75038815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:75038815delC	ENST00000326665.5	-	14	2797	c.2579delG	c.(2578-2580)ggafs	p.G860fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		860	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCTGCTTGTCCTATGGGGTC	0.537																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2578-2580)gafs		chromosome 1 open reading frame 173							149.0	146.0	147.0					1																	75038815		2203	4300	6503	SO:0001589	frameshift_variant	127254							g.chr1:75038815delC																												ENST00000326665.5:c.2579delG	1.37:g.75038815delC	ENSP00000322609:p.Gly860fs					C1orf173_ENST00000433746.2_5'UTR	p.G860fs	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2797	-			860			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Del	DEL	ENST00000326665.5	37	c.2579delG	CCDS30755.1																																																																																				0.537	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			7	593						7	593	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584232	145584233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:145584232_145584233insC	ENST00000393045.2	+	11	1473_1474	c.1383_1384insC	c.(1384-1386)cccfs	p.P462fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.P427fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	462					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGATCTGCCCCCTACCAA	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1381-1386)ctccccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584232_145584233insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1388dupC	1.37:g.145584237_145584237dupC	ENSP00000376765:p.Pro462fs					PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.LP426fs	p.LP461fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			11	1473_1474	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		461					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1383_1384insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	855						7	855	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276875	152276875	+	Frame_Shift_Del	DEL	C	C	-	rs116505293	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:152276875delC	ENST00000368799.1	-	3	10522	c.10487delG	c.(10486-10488)ggafs	p.G3496fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3496	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCATCTCCTGATTGTTC	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10486-10488)gafs		filaggrin							271.0	267.0	268.0					1																	152276875		2203	4297	6500	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276875delC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10487delG	1.37:g.152276875delC	ENSP00000357789:p.Gly3496fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G3496fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10522	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3496			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.10487delG	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		33	806						33	806	---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155006136	155006137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:155006136_155006137insC	ENST00000368424.3	-	1	99_100	c.41_42insG	c.(40-42)ggafs	p.G14fs	DCST1_ENST00000295542.1_5'Flank|DCST2_ENST00000295536.5_Frame_Shift_Ins_p.G14fs|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	14						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGCTCCTCTCCCCCCAAGGG	0.589																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(40-42)ggafs		DC-STAMP domain containing 2																																				SO:0001589	frameshift_variant	127579					integral to membrane		g.chr1:155006136_155006137insC	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.42dupG	1.37:g.155006142_155006142dupC	ENSP00000357409:p.Gly14fs					DCST2_ENST00000295536.5_Frame_Shift_Ins_p.G14fs	p.G14fs	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	99_100	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		14					Q2M2R2|Q8N810|Q96M03	Frame_Shift_Ins	INS	ENST00000368424.3	37	c.41_42insG	CCDS1082.2																																																																																				0.589	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		8	306						8	306	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr1:181549749_181549750insC	ENST00000367573.2	+	6	788_789	c.788_789insC	c.(787-792)gaccccfs	p.DP263fs	CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.DP214fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(787-789)gccfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749_181549750insC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.794dupC	1.37:g.181549755_181549755dupC	ENSP00000356545:p.Asp263fs					CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			6	953_954	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	c.788_789insC	CCDS55664.1																																																																																				0.505	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	2193						8	2193	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.176_177insC	c.(175-177)ccg>ccCg	p.P59fs	DNMT3A_ENST00000406659.3_Splice_Site_p.P59fs|DNMT3A_ENST00000321117.5_Splice_Site_p.P59fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.e3+1		DNA (cytosine-5-)-methyltransferase 3 alpha																																				SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25523008_25523009insG		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.177+1->C	2.37:g.25523014_25523014dupG						DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice|DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice	p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			3	513_514	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		59					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	INS	ENST00000264709.3	37	c.177_splice	CCDS33157.1																																																																																				0.649	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Frame_Shift_Ins	11	400						11	400	---	---	---	---
GCKR	2646	broad.mit.edu	37	2	27721130	27721131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:27721130_27721131insG	ENST00000264717.2	+	4	357_358	c.294_295insG	c.(295-297)gggfs	p.G99fs	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	99	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCAGATGGGGGGCTGGT	0.53																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(292-297)gaggggfs		glucokinase (hexokinase 4) regulator																																				SO:0001589	frameshift_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27721130_27721131insG	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.300dupG	2.37:g.27721136_27721136dupG	ENSP00000264717:p.Gly99fs					GCKR_ENST00000424318.2_5'UTR	p.EG98fs	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			4	357_358	+	Acute lymphoblastic leukemia(172;0.155)		98			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Frame_Shift_Ins	INS	ENST00000264717.2	37	c.294_295insG	CCDS1757.1																																																																																				0.530	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		7	517						7	517	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804287	27804288	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:27804287_27804288insC	ENST00000408964.2	+	1	4899_4900	c.4848_4849insC	c.(4849-4851)cccfs	p.P1617fs	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1617	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACTGCAGTCCCCCCGAGAG	0.569																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4846-4851)agccccfs		chromosome 2 open reading frame 16																																				SO:0001589	frameshift_variant	84226							g.chr2:27804287_27804288insC	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4854dupC	2.37:g.27804293_27804293dupC	ENSP00000386190:p.Pro1617fs						p.SP1616fs	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	4899_4900	+	Acute lymphoblastic leukemia(172;0.155)		1616			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Frame_Shift_Ins	INS	ENST00000408964.2	37	c.4848_4849insC	CCDS42666.1																																																																																				0.569	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		9	494						9	494	---	---	---	---
NAT8	9027	broad.mit.edu	37	2	73868608	73868609	+	Frame_Shift_Ins	INS	-	-	C	rs201919330	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:73868608_73868609insC	ENST00000272425.3	-	2	296_297	c.147_148insG	c.(145-150)gggcccfs	p.P50fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGGCGAGGGGCCCCCCAAGTA	0.614																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(145-150)ggccctfs		N-acetyltransferase 8 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868608_73868609insC	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.148dupG	2.37:g.73868614_73868614dupC	ENSP00000272425:p.Pro50fs						p.GP49fs	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	296_297	-			49						Frame_Shift_Ins	INS	ENST00000272425.3	37	c.147_148insG	CCDS1926.1																																																																																				0.614	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		8	696						8	696	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	660						7	660	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197953472	197953473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr2:197953472_197953473insT	ENST00000328737.2	-	12	1210_1211	c.1134_1135insA	c.(1132-1137)aaatttfs	p.F379fs	ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.F396fs|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.F404fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.F379fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.F379fs|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.F332fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	404										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCTTCCAAATTTATCTGGGG	0.381																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1132-1137)aattggfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197953472_197953473insT	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1135dupA	2.37:g.197953475_197953475dupT	ENSP00000331516:p.Phe379fs					ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.NW403fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.NW378fs|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.NW331fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.NW395fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.NW378fs	p.NW378fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		12	1210_1211	-			403					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Ins	INS	ENST00000328737.2	37	c.1134_1135insA																																																																																					0.381	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		66	150						66	150	---	---	---	---
EIF2B5	8893	broad.mit.edu	37	3	183855702	183855703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:183855702_183855703insA	ENST00000273783.3	+	4	645_646	c.523_524insA	c.(523-525)gaafs	p.E175fs	EIF2B5_ENST00000444495.1_Frame_Shift_Ins_p.E175fs|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000498831.1_3'UTR	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	175					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACGGAAGCTAGAAAAAAATGTT	0.48																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(523-525)aaafs		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa																																				SO:0001589	frameshift_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855702_183855703insA	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.530dupA	3.37:g.183855709_183855709dupA	ENSP00000273783:p.Glu175fs					EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Frame_Shift_Ins_p.K175fs	p.K175fs	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		4	645_646	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		175					Q541Z1|Q96D04	Frame_Shift_Ins	INS	ENST00000273783.3	37	c.523_524insA	CCDS3252.1																																																																																				0.480	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			7	581						7	581	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr3:195597005_195597006insG	ENST00000333602.6	-	11	2139_2140	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.Q571fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.Q540fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.Q508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	508				Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614																																						ENST00000333602.6																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1522-1524)gcafs		tyrosine kinase, non-receptor, 2	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195597005_195597006insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1523dupC	3.37:g.195597012_195597012dupG	ENSP00000329425:p.Gln508fs					TNK2_ENST00000392400.1_Frame_Shift_Ins_p.A508fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.A571fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.A540fs	p.A508fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2139_2140	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	508	Missing (in Ref. 4; AAH08884).				Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1522_1523insC	CCDS33928.1																																																																																				0.614	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		3	3						3	3	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3117148	3117160	+	Frame_Shift_Del	DEL	AGTTGGCTACTAA	AGTTGGCTACTAA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr4:3117148_3117160delAGTTGGCTACTAA	ENST00000355072.5	+	7	1010_1022	c.865_877delAGTTGGCTACTAA	c.(865-879)agttggctactaaatfs	p.SWLLN289fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	289					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATATTTCTATAGTTGGCTACTAAATGTGCTCTT	0.469																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(865-879)atfs		huntingtin																																				SO:0001589	frameshift_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3117148_3117160delAGTTGGCTACTAA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.865_877delAGTTGGCTACTAA	4.37:g.3117148_3117160delAGTTGGCTACTAA	ENSP00000347184:p.Ser289fs						p.SWLLN289fs	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	7	1010_1022	+		all_epithelial(65;0.18)	289					Q9UQB7	Frame_Shift_Del	DEL	ENST00000355072.5	37	c.865_877delAGTTGGCTACTAA	CCDS43206.1																																																																																				0.469	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		33	151						33	151	---	---	---	---
LOC100653061	100653061	broad.mit.edu	37	5	34175819	34175820	+	RNA	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:34175819_34175820insC	ENST00000514048.1	-	0	452																											TAAACCAGCTTCCCCCCTTTGT	0.455																																						ENST00000514048.1																			0																																																			100653061							g.chr5:34175819_34175820insC																													5.37:g.34175825_34175825dupC														0	452	-									RNA	INS	ENST00000514048.1	37																																																																																						0.455	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000367775.1			2	4						2	4	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35700726	35700726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:35700726delA	ENST00000356031.3	+	16	2424	c.2270delA	c.(2269-2271)caafs	p.Q757fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.Q752fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	757					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCACAAAAATCCACA	0.388																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2254-2256)cafs		sperm flagellar 2							126.0	113.0	117.0					5																	35700726		1841	4082	5923	SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700726delA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2270delA	5.37:g.35700726delA	ENSP00000348314:p.Gln757fs					SPEF2_ENST00000356031.3_Frame_Shift_Del_p.Q757fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs	p.Q752fs			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2255	+	all_lung(31;7.56e-05)		757					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	ENST00000356031.3	37	c.2255delA	CCDS43309.1																																																																																				0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		73	85						73	85	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-36)atggggfs	p.MG11fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG11fs|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCCCAAGATGGGGGGCAGGA	0.455																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(31-33)aggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608557_36608558insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.38dupG	5.37:g.36608563_36608563dupG	ENSP00000265113:p.Met11fs					SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs|SLC1A3_ENST00000506725.1_3'UTR	p.R11fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	508_509	+	all_lung(31;0.000245)		11					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.32_33insG	CCDS3919.1																																																																																				0.455	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		8	377						8	377	---	---	---	---
BHMT	635	broad.mit.edu	37	5	78417151	78417152	+	Frame_Shift_Ins	INS	-	-	C	rs60947960	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:78417151_78417152insC	ENST00000274353.5	+	5	695_696	c.588_589insC	c.(589-591)cccfs	p.P197fs	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	197	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCATGGCGTGCCCCCCGGCGA	0.49																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(586-591)gtccccfs		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78417151_78417152insC	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.594dupC	5.37:g.78417157_78417157dupC	ENSP00000274353:p.Pro197fs					BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	p.VP196fs	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	5	695_696	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	196			Hcy-binding.		Q9UNI9	Frame_Shift_Ins	INS	ENST00000274353.5	37	c.588_589insC	CCDS4046.1																																																																																				0.490	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		8	711						8	711	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579531	140579532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:140579531_140579532insG	ENST00000354757.3	+	1	184_185	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCGG	0.51																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(184-186)gggfs																																						SO:0001589	frameshift_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579531_140579532insG	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.190dupG	5.37:g.140579537_140579537dupG	ENSP00000346802:p.Arg62fs					PCDHB11_ENST00000536699.1_Intron	p.G62fs	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	184_185	+			62			Cadherin 1.		B4DSF7|Q2M223	Frame_Shift_Ins	INS	ENST00000354757.3	37	c.184_185insG	CCDS4253.1																																																																																				0.510	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		9	350						9	350	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745935	140745936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:140745935_140745936insC	ENST00000518069.1	+	1	2038_2039	c.2038_2039insC	c.(2038-2040)accfs	p.T680fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	680	Cadherin 6. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTATCAAGACCCCCATTGAC	0.604																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(2038-2040)cccfs																																						SO:0001589	frameshift_variant	56110							g.chr5:140745935_140745936insC	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2043dupC	5.37:g.140745940_140745940dupC	ENSP00000429834:p.Thr680fs					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.P680fs	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2038_2039	+								Q2M3F5|Q9Y5D2	Frame_Shift_Ins	INS	ENST00000518069.1	37	c.2038_2039insC	CCDS54925.1																																																																																				0.604	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		11	1676						11	1676	---	---	---	---
GPRIN1	114787	broad.mit.edu	37	5	176026664	176026665	+	Frame_Shift_Ins	INS	-	-	G	rs139277418	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr5:176026664_176026665insG	ENST00000303991.4	-	2	348_349	c.171_172insC	c.(169-174)cccaggfs	p.R58fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	58					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGTGCCTGGGGGGTGCAG	0.658																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(169-174)ccggcafs		G protein regulated inducer of neurite outgrowth 1																																				SO:0001589	frameshift_variant	114787					growth cone|plasma membrane		g.chr5:176026664_176026665insG	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.172dupC	5.37:g.176026670_176026670dupG	ENSP00000305839:p.Arg58fs						p.A58fs	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	348_349	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	58					C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Ins	INS	ENST00000303991.4	37	c.171_172insC	CCDS4405.1																																																																																				0.658	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		8	217						8	217	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31508238	31508239	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr6:31508238_31508239insC	ENST00000396172.1	-	2	701_702	c.71_72insG	c.(70-72)ggafs	p.G24fs	DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.E20fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000449074.2_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.E20fs|SNORD84_ENST00000584275.1_RNA|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.G24fs|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.G24fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	24					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CAGCCCCATCTCCCCCAGCTGC	0.569																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(70-72)ggafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001589	frameshift_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508238_31508239insC	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.72dupG	6.37:g.31508243_31508243dupC	ENSP00000379475:p.Gly24fs					DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.D20fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.D20fs|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.G24fs|DDX39B_ENST00000449074.2_Frame_Shift_Ins_p.G24fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.G24fs			Q13838	DX39B_HUMAN			2	701_702	-			24					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	c.71_72insG	CCDS4697.1																																																																																				0.569	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		7	278						7	278	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31142950	31142959	+	Frame_Shift_Del	DEL	CGTGTTTGAG	CGTGTTTGAG	-	rs527816186	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:31142950_31142959delCGTGTTTGAG	ENST00000304166.4	+	14	1435_1444	c.1146_1155delCGTGTTTGAG	c.(1144-1155)ctcgtgtttgagfs	p.LVFE382fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	382					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGAAAGACTCGTGTTTGAGCTGGGGCTGG	0.586																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(1144-1155)ctfs		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I																																				SO:0001589	frameshift_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31142950_31142959delCGTGTTTGAG		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1146_1155delCGTGTTTGAG	7.37:g.31142950_31142959delCGTGTTTGAG	ENSP00000306620:p.Leu382fs					ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs	p.LVFE382fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			14	1435_1444	+			382					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	ENST00000304166.4	37	c.1146_1155delCGTGTTTGAG	CCDS5433.1																																																																																				0.586	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		31	97						31	97	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112242	76112243	+	Frame_Shift_Ins	INS	-	-	C	rs143934697		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr7:76112242_76112243insC	ENST00000324432.5	+	5	1196_1197	c.686_687insC	c.(685-690)caccccfs	p.HP229fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.HP229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.HP138fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	229					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						GTCCCCCAGCACCCCCCACACA	0.649																																						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.(685-687)cccfs		deltex homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112242_76112243insC		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.692dupC	7.37:g.76112248_76112248dupC	ENSP00000322885:p.His229fs					DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs	p.P229fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1196_1197	+			229					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Ins	INS	ENST00000324432.5	37	c.686_687insC	CCDS5587.1																																																																																				0.649	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			20	606						20	606	---	---	---	---
GINS4	84296	broad.mit.edu	37	8	41397486	41397487	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr8:41397486_41397487insC	ENST00000276533.3	+	6	657_658	c.447_448insC	c.(448-450)cccfs	p.P150fs	RP11-360L9.4_ENST00000523081.1_RNA|RP11-360L9.7_ENST00000578500.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA|GINS4_ENST00000518671.1_Frame_Shift_Ins_p.P150fs|GINS4_ENST00000523277.2_Frame_Shift_Ins_p.P150fs	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	150					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGAAGCACATGCCCCCTAACTT	0.53																																						ENST00000523277.2																			0				breast(1)|lung(2)|skin(1)	4						c.(445-450)atccccfs		GINS complex subunit 4 (Sld5 homolog)																																				SO:0001589	frameshift_variant	84296				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr8:41397486_41397487insC	BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.452dupC	8.37:g.41397491_41397491dupC	ENSP00000276533:p.Pro150fs					GINS4_ENST00000518671.1_Frame_Shift_Ins_p.IP149fs|GINS4_ENST00000276533.3_Frame_Shift_Ins_p.IP149fs|RP11-360L9.4_ENST00000523081.1_RNA	p.IP149fs			Q9BRT9	SLD5_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		6	614_615	+	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	149					B2R8H5|D3DSY0|Q8N648	Frame_Shift_Ins	INS	ENST00000276533.3	37	c.447_448insC	CCDS6116.1																																																																																				0.530	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336		7	2677						7	2677	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6536174	6536174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr9:6536174delA	ENST00000321612.6	-	23	2878	c.2728delT	c.(2728-2730)tcgfs	p.S910fs		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	910					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTGTCCTCCGACTCAGTGGGC	0.572																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2728-2730)cgfs		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						47.0	38.0	41.0					9																	6536174		2203	4300	6503	SO:0001589	frameshift_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6536174delA	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2728delT	9.37:g.6536174delA	ENSP00000370737:p.Ser910fs						p.S910fs	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	23	2878	-		Acute lymphoblastic leukemia(23;0.161)	910					Q2M2F8	Frame_Shift_Del	DEL	ENST00000321612.6	37	c.2728delT	CCDS34987.1																																																																																				0.572	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		7	69						7	69	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52580311	52580311	+	Splice_Site	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr10:52580311delC	ENST00000373993.1	-	6	912		c.e6+1		A1CF_ENST00000374001.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000395489.2_Splice_Site|A1CF_ENST00000493415.1_Splice_Site|RP11-449O16.2_ENST00000438919.1_RNA			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTCTACCTTACCTTGCCATTT	0.423																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.e10+1		APOBEC1 complementation factor							97.0	89.0	92.0					10																	52580311		2203	4300	6503	SO:0001630	splice_region_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52580311delC	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.867+1G>-	10.37:g.52580311delC						A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000493415.1_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000373995.3_Splice_Site		NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			10	1243	-								A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Splice_Site	DEL	ENST00000373993.1	37		CCDS7242.1																																																																																				0.423	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	Intron	11	80						11	80	---	---	---	---
ART5	116969	broad.mit.edu	37	11	3660979	3660980	+	Frame_Shift_Ins	INS	-	-	G	rs74708481		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:3660979_3660980insG	ENST00000397068.3	-	2	1071_1072	c.679_680insC	c.(679-681)catfs	p.H227fs	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Frame_Shift_Ins_p.H227fs|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	227					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGACTTCATGGGGGGGAATC	0.5																																						ENST00000397068.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(679-681)tgafs		ADP-ribosyltransferase 5			,	5,4259		0,5,2127					,	6.2	1.0			76	3,8251		0,3,4124	no	frameshift,frameshift	ART5	NM_053017.3,NM_001079536.1	,	0,8,6251	A1A1,A1R,RR		0.0363,0.1173,0.0639	,	,		8,12510				SO:0001589	frameshift_variant	116969					extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr11:3660979_3660980insG	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.680dupC	11.37:g.3660986_3660986dupG	ENSP00000380258:p.His227fs					ART5_ENST00000359918.4_Frame_Shift_Ins_p.*227fs|ART5_ENST00000397067.3_Intron	p.*227fs	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1071_1072	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	227					C9IYG7|Q6UX84|Q86W02	Frame_Shift_Ins	INS	ENST00000397068.3	37	c.679_680insC	CCDS7743.1																																																																																				0.500	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017		7	165						7	165	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61536775	61536776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:61536775_61536776insC	ENST00000278836.5	+	4	538_539	c.442_443insC	c.(442-444)tccfs	p.S148fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Ins_p.S139fs	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	148	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CGAGGCCTACTCCCCCCAGCAG	0.678																																						ENST00000278836.5																			0											c.(442-444)cccfs		myelin regulatory factor																																				SO:0001589	frameshift_variant	745							g.chr11:61536775_61536776insC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.448dupC	11.37:g.61536781_61536781dupC	ENSP00000278836:p.Ser148fs					MYRF_ENST00000265460.5_Frame_Shift_Ins_p.P139fs|TMEM258_ENST00000535042.1_Intron	p.P148fs	NM_001127392.1	NP_001120864.1					4	538_539	+								O43582|Q9P1Q6	Frame_Shift_Ins	INS	ENST00000278836.5	37	c.442_443insC	CCDS44622.1																																																																																				0.678	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		4	6						4	6	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65422045	65422046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:65422045_65422046insG	ENST00000406246.3	-	11	1720_1721	c.1459_1460insC	c.(1459-1461)cacfs	p.H487fs	RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	487					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCAGTTGTGTGGGGGGCCACA	0.624																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1459-1461)cacfs		v-rel avian reticuloendotheliosis viral oncogene homolog A																																				SO:0001589	frameshift_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65422045_65422046insG	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1460dupC	11.37:g.65422051_65422051dupG	ENSP00000384273:p.His487fs					RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Frame_Shift_Ins_p.H484fs	p.H487fs	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1720_1721	-			487					Q6GTV1|Q6SLK1	Frame_Shift_Ins	INS	ENST00000406246.3	37	c.1459_1460insC	CCDS31609.1																																																																																				0.624	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		7	295						7	295	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.R131fs|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624																																						ENST00000376901.4																			1	Substitution - Missense(1)	p.R131L(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)gcafs		Yip1 interacting factor homolog A (S. cerevisiae)				18,4246		0,18,2114						4.8	1.0			29	10,8242		0,10,4116	no	frameshift	YIF1A	NM_020470.2		0,28,6230	A1A1,A1R,RR		0.1212,0.4221,0.2237				28,12488				SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055104_66055105insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.392dupC	11.37:g.66055111_66055111dupG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs	p.A131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575_576	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.391_392insC	CCDS8132.1																																																																																				0.624	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		9	74						9	74	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424222	89424223	+	RNA	INS	-	-	T			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr11:89424222_89424223insT	ENST00000532352.1	+	0	1685_1686							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GATTGTCGAGATTATGCTGTAG	0.376																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424222_89424223insT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424224_89424224dupT										Q9HBA9	FOH1B_HUMAN			0	1685_1686	+									RNA	INS	ENST00000532352.1	37																																																																																						0.376	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		51	100						51	100	---	---	---	---
SLC6A12	6539	broad.mit.edu	37	12	301777	301778	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:301777_301778insG	ENST00000428720.1	-	15	2310_2311	c.1567_1568insC	c.(1567-1569)ctcfs	p.L523fs	SLC6A12_ENST00000359674.4_Frame_Shift_Ins_p.L523fs|SLC6A12_ENST00000397296.2_Frame_Shift_Ins_p.L523fs|SLC6A12_ENST00000536824.1_Frame_Shift_Ins_p.L523fs|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000424061.2_Frame_Shift_Ins_p.L523fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	523					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTTGTACTTGAGGGGGGTGTAC	0.569																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1567-1569)caafs		solute carrier family 6 (neurotransmitter transporter), member 12																																				SO:0001589	frameshift_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:301777_301778insG	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1568dupC	12.37:g.301783_301783dupG	ENSP00000388184:p.Leu523fs					SLC6A12_ENST00000536824.1_Frame_Shift_Ins_p.Q523fs|SLC6A12_ENST00000424061.2_Frame_Shift_Ins_p.Q523fs|SLC6A12_ENST00000397296.2_Frame_Shift_Ins_p.Q523fs|SLC6A12_ENST00000359674.4_Frame_Shift_Ins_p.Q523fs	p.Q523fs	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		15	2310_2311	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		523					A0AV52|B2R992|D3DUN8	Frame_Shift_Ins	INS	ENST00000428720.1	37	c.1567_1568insC	CCDS8501.1																																																																																				0.569	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		11	623						11	623	---	---	---	---
CDK2	1017	broad.mit.edu	37	12	56363264	56363265	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56363264_56363265delGA	ENST00000266970.4	+	5	732_733	c.492_493delGA	c.(490-495)gtgaccfs	p.T165fs	CDK2_ENST00000354056.4_Intron|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000536427.1_5'Flank|PMEL_ENST00000539511.1_5'Flank|CDK2_ENST00000553376.1_Frame_Shift_Del_p.T165fs|CDK2_ENST00000440311.2_Intron|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548747.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CTCAGGTGGTGACCCTGTGGTA	0.535																																						ENST00000266970.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(490-495)gtccfs		cyclin-dependent kinase 2																																				SO:0001589	frameshift_variant	1017				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding	g.chr12:56363264_56363265delGA	M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.492_493delGA	12.37:g.56363264_56363265delGA	ENSP00000266970:p.Thr165fs					CDK2_ENST00000354056.4_Intron|CDK2_ENST00000440311.2_Intron|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Frame_Shift_Del_p.VT164fs	p.VT164fs	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		5	732_733	+			164			Protein kinase.		A8K7C6|O75100	Frame_Shift_Del	DEL	ENST00000266970.4	37	c.492_493delGA	CCDS8898.1																																																																																				0.535	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			36	173						36	173	---	---	---	---
COQ10A	93058	broad.mit.edu	37	12	56662853	56662853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:56662853delC	ENST00000308197.5	+	3	553	c.292delC	c.(292-294)cagfs	p.Q98fs	COQ10A_ENST00000433805.2_Frame_Shift_Del_p.Q66fs|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.Q81fs	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	98						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTACTCAATGCAGGAGATGTA	0.507																																						ENST00000308197.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(292-294)agfs		coenzyme Q10 homolog A (S. cerevisiae)							152.0	146.0	148.0					12																	56662853		2003	4198	6201	SO:0001589	frameshift_variant	93058					mitochondrial inner membrane		g.chr12:56662853delC	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.292delC	12.37:g.56662853delC	ENSP00000312587:p.Gln98fs					COQ10A_ENST00000433805.2_Frame_Shift_Del_p.Q66fs|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Frame_Shift_Del_p.Q81fs	p.Q98fs	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN			3	553	+			98					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Frame_Shift_Del	DEL	ENST00000308197.5	37	c.292delC	CCDS41796.1																																																																																				0.507	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		23	471						23	471	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57995030	57995031	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:57995030_57995031insC	ENST00000354947.5	+	9	1100_1101	c.1084_1085insC	c.(1084-1086)gccfs	p.A362fs	PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.A362fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.A314fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.A344fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	362	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTCCCAGGAGCCCCCCAGAAG	0.475																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1084-1086)cccfs		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma																																				SO:0001589	frameshift_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57995030_57995031insC	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.1090dupC	12.37:g.57995036_57995036dupC	ENSP00000347032:p.Ala362fs					PIP4K2C_ENST00000550465.1_Frame_Shift_Ins_p.P344fs|PIP4K2C_ENST00000422156.3_Frame_Shift_Ins_p.P314fs|PIP4K2C_ENST00000540759.2_Frame_Shift_Ins_p.P362fs	p.P362fs			Q8TBX8	PI42C_HUMAN			9	1100_1101	+	Melanoma(17;0.122)		362			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Frame_Shift_Ins	INS	ENST00000354947.5	37	c.1084_1085insC	CCDS8946.1																																																																																				0.475	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		9	402						9	402	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58006824	58006825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:58006824_58006825insC	ENST00000286494.4	+	2	669_670	c.209_210insC	c.(208-213)ggccccfs	p.GP70fs	ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.GP109fs|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	70						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTTCCCCAGGCCCCCCAGGGC	0.619																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(208-210)gccfs		Rho guanine nucleotide exchange factor (GEF) 25																																				SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58006824_58006825insC		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.215dupC	12.37:g.58006830_58006830dupC	ENSP00000286494:p.Gly70fs					AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.A109fs|AC025165.8_ENST00000356672.3_RNA	p.A70fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			2	669_670	+			70					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	ENST00000286494.4	37	c.209_210insC	CCDS8947.1																																																																																				0.619	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		11	840						11	840	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69965989	69965989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr12:69965989delT	ENST00000550389.1	+	6	750	c.504delT	c.(502-504)cctfs	p.P168fs	FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000299293.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	168					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGACATCCTTCTGTGGGAA	0.478																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(502-504)ccfs		fibroblast growth factor receptor substrate 2							130.0	124.0	126.0					12																	69965989		1979	4158	6137	SO:0001589	frameshift_variant	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69965989delT	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.504delT	12.37:g.69965989delT	ENSP00000447241:p.Pro168fs					FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs|FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000550389.1_Frame_Shift_Del_p.P168fs	p.P168fs	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	1014	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		168					B0LPF2|B2R684|O43558|Q7LDQ6	Frame_Shift_Del	DEL	ENST00000550389.1	37	c.504delT	CCDS41809.1																																																																																				0.478	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		89	328						89	328	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)cccaaafs	p.K1557fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.5								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4666-4671)ccaagtfs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit				0,4264		0,0,2132						5.5	1.0			163	1,8247		0,1,4123	no	frameshift	SLX4	NM_032444.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3634840_3634841insG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4669dupC	16.37:g.3634846_3634846dupG	ENSP00000294008:p.Lys1557fs						p.S1557fs	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			13	5308_5309	-			1557			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	ENST00000294008.3	37	c.4668_4669insC	CCDS10506.2																																																																																				0.500	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		11	820						11	820	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)accfs	p.T46fs	MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCCT	0.465																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(136-138)cccfs		mahogunin ring finger 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4700413_4700414insC	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.142dupC	16.37:g.4700419_4700419dupC	ENSP00000382487:p.Thr46fs					MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs	p.P46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			2	229_230	+			46					A4URL3|A4URL4|Q86W76	Frame_Shift_Ins	INS	ENST00000399577.5	37	c.136_137insC	CCDS45402.1																																																																																				0.465	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			43	1739						43	1739	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	368						7	368	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25232874	25232875	+	Frame_Shift_Ins	INS	-	-	G	rs373506859|rs141164855	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr16:25232874_25232875insG	ENST00000219660.5	+	3	482_483	c.357_358insG	c.(358-360)gggfs	p.G120fs	AQP8_ENST00000566125.1_Frame_Shift_Ins_p.G114fs	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	120					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.M122fs*10(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGCT	0.629																																						ENST00000219660.5																			2	Deletion - Frameshift(2)	p.M122fs*10(2)	large_intestine(2)	NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(355-360)ctggggfs		aquaporin 8																																				SO:0001589	frameshift_variant	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25232874_25232875insG	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.363dupG	16.37:g.25232880_25232880dupG	ENSP00000219660:p.Gly120fs					AQP8_ENST00000566125.1_Frame_Shift_Ins_p.LG113fs	p.LG119fs	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	3	482_483	+			119					Q8IUU3|Q9UIA4	Frame_Shift_Ins	INS	ENST00000219660.5	37	c.357_358insG	CCDS10626.1																																																																																				0.629	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		7	310						7	310	---	---	---	---
ATPAF2	91647	broad.mit.edu	37	17	17927959	17927961	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:17927959_17927961delATT	ENST00000474627.3	-	5	634_636	c.480_482delAAT	c.(478-483)ccaatc>ccc	p.I162del	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_3'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	162					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATTCGATGATTGGATCCCACT	0.468																																						ENST00000474627.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8						c.(478-483)ccc>cc		ATP synthase mitochondrial F1 complex assembly factor 2																																				SO:0001651	inframe_deletion	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17927959_17927961delATT	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.480_482delAAT	17.37:g.17927959_17927961delATT	ENSP00000417190:p.Ile162del					ATPAF2_ENST00000585101.1_3'UTR|ATPAF2_ENST00000469327.1_5'UTR	p.PI160del	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN			5	634_636	-	all_neural(463;0.228)		160					A6NDE5|A8K2J2|Q6XYC7	In_Frame_Del	DEL	ENST00000474627.3	37	c.480_482delAAT	CCDS32585.1																																																																																				0.468	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691		17	36						17	36	---	---	---	---
KRT33B	3884	broad.mit.edu	37	17	39525930	39525931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:39525930_39525931insG	ENST00000251646.3	-	1	121_122	c.72_73insC	c.(70-75)cccagcfs	p.S25fs		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	25	Head.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACAC	0.649																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(70-75)ccgctgfs		keratin 33B																																				SO:0001589	frameshift_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39525930_39525931insG	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.73dupC	17.37:g.39525936_39525936dupG	ENSP00000251646:p.Ser25fs						p.L25fs	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			1	121_122	-		Breast(137;0.000496)	25			Head.		O76010	Frame_Shift_Ins	INS	ENST00000251646.3	37	c.72_73insC	CCDS11389.1																																																																																				0.649	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		8	99						8	99	---	---	---	---
B3GNTL1	146712	broad.mit.edu	37	17	81006371	81006372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr17:81006371_81006372insC	ENST00000320865.3	-	3	265_266	c.252_253insG	c.(250-255)gggcacfs	p.H85fs	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	85							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGAATCGTGCCCCCCAATGA	0.441																																						ENST00000320865.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8						c.(250-255)ggacgafs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1																																				SO:0001589	frameshift_variant	146712						transferase activity, transferring glycosyl groups	g.chr17:81006371_81006372insC	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.253dupG	17.37:g.81006377_81006377dupC	ENSP00000319979:p.His85fs					B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	p.R85fs	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		3	265_266	-	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	85					Q6GV30|Q8WUT3	Frame_Shift_Ins	INS	ENST00000320865.3	37	c.252_253insG	CCDS32778.1																																																																																				0.441	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1	NM_001009905		8	331						8	331	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284307	46284308	+	Frame_Shift_Ins	INS	-	-	G	rs111264927		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:46284307_46284308insG	ENST00000256413.3	+	8	897_898	c.602_603insG	c.(601-606)ccggggfs	p.PG201fs	CTIF_ENST00000382998.4_Frame_Shift_Ins_p.PG201fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	201	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.P153L(1)|p.P201L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAGAGACCTCCGGGGGGCAACA	0.629																																						ENST00000256413.3																			2	Substitution - Missense(2)	p.P153L(1)|p.P201L(1)	lung(2)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(601-603)cggfs		CBP80/20-dependent translation initiation factor																																				SO:0001589	frameshift_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284307_46284308insG	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.608dupG	18.37:g.46284313_46284313dupG	ENSP00000256413:p.Pro201fs					CTIF_ENST00000382998.4_Frame_Shift_Ins_p.R201fs	p.R201fs	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	897_898	+			201			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Frame_Shift_Ins	INS	ENST00000256413.3	37	c.602_603insG	CCDS11935.1																																																																																				0.629	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		7	567						7	567	---	---	---	---
CNDP2	55748	broad.mit.edu	37	18	72168667	72168668	+	Frame_Shift_Ins	INS	-	-	G	rs556124772		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr18:72168667_72168668insG	ENST00000324262.4	+	3	480_481	c.164_165insG	c.(163-168)ttggggfs	p.LG55fs	CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.LG55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.LG55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	55					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTAAGCAGTTGGGGGGCTCTG	0.52																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(163-165)tggfs		CNDP dipeptidase 2 (metallopeptidase M20 family)																																				SO:0001589	frameshift_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72168667_72168668insG	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.170dupG	18.37:g.72168673_72168673dupG	ENSP00000325548:p.Leu55fs					CNDP2_ENST00000579847.1_Frame_Shift_Ins_p.W55fs|CNDP2_ENST00000324301.8_Frame_Shift_Ins_p.W55fs	p.W55fs	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	3	480_481	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	55					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Frame_Shift_Ins	INS	ENST00000324262.4	37	c.164_165insG	CCDS12006.1																																																																																				0.520	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		12	581						12	581	---	---	---	---
ZNF561	93134	broad.mit.edu	37	19	9727836	9727838	+	In_Frame_Del	DEL	CGT	CGT	-	rs201340844|rs200486363	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:9727836_9727838delCGT	ENST00000302851.3	-	4	487_489	c.124_126delACG	c.(124-126)acgdel	p.T42del	ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000326044.5_In_Frame_Del_p.T42del|ZNF561_ENST00000354661.4_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CATCATCAAACGTCACTGAATCC	0.443																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(124-126)del		zinc finger protein 561																																				SO:0001651	inframe_deletion	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9727836_9727838delCGT	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.124_126delACG	19.37:g.9727836_9727838delCGT	ENSP00000303915:p.Thr42del					ZNF561_ENST00000326044.5_In_Frame_Del_p.T42del|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000495503.1_5'UTR	p.T42del	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			4	487_489	-			42			KRAB.		B4E2Q8|Q6PJS0	In_Frame_Del	DEL	ENST00000302851.3	37	c.124_126delACG	CCDS12216.2																																																																																				0.443	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		43	69						43	69	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10463112	10463113	+	Frame_Shift_Ins	INS	-	-	G	rs373614901		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:10463112_10463113insG	ENST00000525621.1	-	23	3796_3797	c.3315_3316insC	c.(3313-3318)cccacgfs	p.T1106fs	TYK2_ENST00000524462.1_Frame_Shift_Ins_p.T921fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.T1106fs|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTCTCACCGTGGGGGGGCTCT	0.599																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3313-3318)cccgaafs		tyrosine kinase 2																																				SO:0001589	frameshift_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463112_10463113insG		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3316dupC	19.37:g.10463119_10463119dupG	ENSP00000431885:p.Thr1106fs					TYK2_ENST00000529422.1_Intron|TYK2_ENST00000524462.1_Frame_Shift_Ins_p.E921fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.E1106fs	p.E1106fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		23	3796_3797	-			1106			Protein kinase 2.		Q6QB10|Q96CH0	Frame_Shift_Ins	INS	ENST00000525621.1	37	c.3315_3316insC	CCDS12236.1																																																																																				0.599	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			14	164						14	164	---	---	---	---
MIR520E	574461	broad.mit.edu	37	19	54177507	54177508	+	RNA	DEL	TA	TA	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:54177507_54177508delTA	ENST00000384867.1	+	0	0				MIR1323_ENST00000408090.1_RNA|MIR498_ENST00000385134.1_RNA	NR_030183.1				microRNA 520e																		GGCGTTTTTCTATAACTGGATG	0.45																																						ENST00000385134.1																			0																																																			574460							g.chr19:54177507_54177508delTA			19q13.42	2011-09-12		2008-12-18	ENSG00000207599	ENSG00000207599		"""ncRNAs / Micro RNAs"""	32093	non-coding RNA	RNA, micro				MIRN520E			Standard	NR_030183		Approved	hsa-mir-520e	uc021uzn.1				19.37:g.54177509_54177510delTA								NR_030182.1						0	57_58	+									RNA	DEL	ENST00000384867.1	37																																																																																						0.450	MIR520E-201	KNOWN	basic	miRNA	miRNA		NR_030183		30	293						30	293	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55331443	55331443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr19:55331443delG	ENST00000391728.4	+	4	664	c.631delG	c.(631-633)gatfs	p.D211fs	KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.D116fs	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	211					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCTCCCAGTGATCCCCTGGA	0.532																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(631-633)atfs		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							112.0	94.0	100.0					19																	55331443		2183	4145	6328	SO:0001589	frameshift_variant	3811							g.chr19:55331443delG	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.631delG	19.37:g.55331443delG	ENSP00000375608:p.Asp211fs					KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.D116fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.D211fs|KIR3DL1_ENST00000402254.2_Frame_Shift_Del_p.D211fs	p.D211fs	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	664	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000391728.4	37	c.631delG	CCDS42621.1																																																																																				0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		8	1513						8	1513	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889663	58889666	+	lincRNA	DEL	CATC	CATC	-			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:58889663_58889666delCATC	ENST00000432910.1	+	0	332					NR_046099.1																						ttctcccattcatccatcctccca	0.539																																						ENST00000432910.1																			0																																																			284757							g.chr20:58889663_58889666delCATC																													20.37:g.58889667_58889670delCATC								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.539	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62904862	62904863	+	Frame_Shift_Ins	INS	-	-	C	rs146314236		TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr20:62904862_62904863insC	ENST00000308824.6	+	6	1122_1123	c.995_996insC	c.(994-999)gaccccfs	p.DP332fs	PCMTD2_ENST00000609372.1_Frame_Shift_Ins_p.DP182fs|PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000369758.4_Frame_Shift_Ins_p.DP305fs|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	332						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACAAAGCCAGACCCCCCAGTGA	0.51																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(994-996)gccfs		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2																																				SO:0001589	frameshift_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904862_62904863insC	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.1001dupC	20.37:g.62904868_62904868dupC	ENSP00000307854:p.Asp332fs					PCMTD2_ENST00000369758.3_Frame_Shift_Ins_p.A305fs|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Frame_Shift_Ins_p.A108fs	p.A332fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	1122_1123	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		332					E1P5H3|Q8IW60|Q9H4K2	Frame_Shift_Ins	INS	ENST00000308824.6	37	c.995_996insC	CCDS13559.1																																																																																				0.510	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		7	255						7	255	---	---	---	---
ICOSLG	23308	broad.mit.edu	37	21	45655412	45655413	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr21:45655412_45655413insG	ENST00000407780.3	-	4	566_567	c.439_440insC	c.(439-441)cacfs	p.H147fs	ICOSLG_ENST00000400377.3_Frame_Shift_Ins_p.H30fs|ICOSLG_ENST00000344330.4_Frame_Shift_Ins_p.H147fs|ICOSLG_ENST00000400379.3_Frame_Shift_Ins_p.H147fs	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	147	Ig-like C2-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGAGGGGCTGTGGGGGGCGCTG	0.579																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(439-441)cagfs		inducible T-cell co-stimulator ligand																																				SO:0001589	frameshift_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45655412_45655413insG	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.440dupC	21.37:g.45655418_45655418dupG	ENSP00000384432:p.His147fs					ICOSLG_ENST00000344330.4_Frame_Shift_Ins_p.Q147fs|ICOSLG_ENST00000400379.3_Frame_Shift_Ins_p.Q147fs|ICOSLG_ENST00000400377.3_Frame_Shift_Ins_p.Q30fs	p.Q147fs			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	4	566_567	-			147			Ig-like C2-type.		A8MUZ1|Q9HD18|Q9NRQ1	Frame_Shift_Ins	INS	ENST00000407780.3	37	c.439_440insC	CCDS42952.1																																																																																				0.579	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		12	281						12	281	---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43619183	43619184	+	Frame_Shift_Ins	INS	-	-	G	rs200093143	byFrequency	TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chr22:43619183_43619184insG	ENST00000360835.4	-	11	1372_1373	c.1246_1247insC	c.(1246-1248)cggfs	p.R416fs		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	416					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGCTGGGCCCGGGGGGAGGTC	0.644																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1246-1248)ggcfs		signal peptide, CUB domain, EGF-like 1																																				SO:0001589	frameshift_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43619183_43619184insG		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1247dupC	22.37:g.43619189_43619189dupG	ENSP00000354080:p.Arg416fs						p.G416fs	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			11	1372_1373	-		all_neural(38;0.0414)|Ovarian(80;0.07)	416					Q5R336	Frame_Shift_Ins	INS	ENST00000360835.4	37	c.1246_1247insC	CCDS14048.1																																																																																				0.644	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		10	423						10	423	---	---	---	---
SSX1	6756	broad.mit.edu	37	X	48125730	48125731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01W-0886-08	TCGA-A3-3382-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4038a83-179f-407c-b5cb-5ca5225ddb4f	fc449561-9e0b-45d3-a20a-c2d5ebf3adf6	g.chrX:48125730_48125731insG	ENST00000376919.3	+	7	611_612	c.475_476insG	c.(475-477)aggfs	p.R159fs		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGACCCAAAAGGGGGAAACAT	0.49			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(475-477)gggfs		synovial sarcoma, X breakpoint 1				0,3721		0,0,1592,537						-0.1	0.0			239	1,6481		0,1,2356,1768	no	frameshift	SSX1	NM_005635.2		0,1,3948,2305	A1A1,A1R,RR,R		0.0154,0.0,0.0098				1,10202				SO:0001589	frameshift_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125730_48125731insG	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.480dupG	X.37:g.48125735_48125735dupG	ENSP00000366118:p.Arg159fs						p.G159fs	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			7	611_612	+			159					A3KN76|Q08AJ2|Q5JQ64	Frame_Shift_Ins	INS	ENST00000376919.3	37	c.475_476insG	CCDS14290.1																																																																																				0.490	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		7	1386						7	1386	---	---	---	---
