#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_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
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.e5+1		mitogen-activated protein kinase kinase kinase 9							70.0	67.0	68.0					14																	71215544		2203	4300	6503	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71215544A>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1326+1T>A	14.37:g.71215544A>T			Somatic				MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1326	-								A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37																																																																																						0.438	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		Intron	6	173	0	0	0	1	0	6	173				
SLC47A1	55244	broad.mit.edu	37	17	19480747	19480747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:19480747C>T	ENST00000270570.4	+	17	1680	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q278*|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.Q230*|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q532*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	532					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GGAACATCCACAGGACGGCGC	0.507																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1594-1596)Cag>Tag		solute carrier family 47 (multidrug and toxin extrusion), member 1							139.0	142.0	141.0					17																	19480747		2203	4300	6503	SO:0001587	stop_gained	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19480747C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1594C>T	17.37:g.19480747C>T	ENSP00000270570:p.Gln532*		Somatic				SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q278*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.Q230*	p.Q532*	NM_018242.2	NP_060712.2	WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			17	1680	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		532					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Nonsense_Mutation	SNP	ENST00000270570.4	37	c.1594C>T	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791650	0.50102	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.16	-1.57	0.08506	.	2.717870	0.00904	N	0.002387	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-13.9312	6.2639	0.20915	0.3157:0.184:0.5003:0.0	.	.	.	.	X	532;532;532;207;244	.	ENSP00000270570:Q532X	Q	+	1	0	SLC47A1	19421339	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.652000	0.05366	-0.317000	0.08677	-0.521000	0.04368	CAG		0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		33	204	0	0	0	1	0	33	204				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_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			Somatic				CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	13	596	0	0	0	1	0	13	596				
FILIP1	27145	broad.mit.edu	37	6	76023992	76023992	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:76023992A>T	ENST00000237172.7	-	5	1886	c.1556T>A	c.(1555-1557)aTa>aAa	p.I519K	FILIP1_ENST00000393004.2_Missense_Mutation_p.I519K|FILIP1_ENST00000370020.1_Missense_Mutation_p.I420K|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	519										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTTGTTTTATTTTTTCCAT	0.318																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1555-1557)aTa>aAa		filamin A interacting protein 1							56.0	59.0	58.0					6																	76023992		2202	4297	6499	SO:0001583	missense	27145							g.chr6:76023992A>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1556T>A	6.37:g.76023992A>T	ENSP00000237172:p.Ile519Lys		Somatic				FILIP1_ENST00000237172.7_Missense_Mutation_p.I519K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.I420K	p.I519K			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	1777	-			519					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1556T>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888660	0.52014	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17691	2.26;2.26;2.27	5.95	5.95	0.96441	.	0.100785	0.64402	D	0.000002	T	0.11067	0.0270	L	0.53249	1.67	0.80722	D	1	P;P;P	0.39940	0.627;0.57;0.696	B;B;B	0.42030	0.198;0.206;0.373	T	0.08186	-1.0734	10	0.14252	T	0.57	-24.9616	16.4237	0.83790	1.0:0.0:0.0:0.0	.	519;519;519	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	519;519;420	ENSP00000376728:I519K;ENSP00000237172:I519K;ENSP00000359037:I420K	ENSP00000237172:I519K	I	-	2	0	FILIP1	76080712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.316000	0.72857	2.279000	0.76181	0.533000	0.62120	ATA		0.318	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		4	72	0	0	0	1	0	4	72				
TRUB2	26995	broad.mit.edu	37	9	131071913	131071913	+	Silent	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131071913G>T	ENST00000372890.4	-	8	1245	c.912C>A	c.(910-912)acC>acA	p.T304T	TRUB2_ENST00000546104.1_Silent_p.T248T|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	304					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GGAGCTGCTTGGTGTCCAGCC	0.657																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(910-912)acC>acA		TruB pseudouridine (psi) synthase family member 2							40.0	43.0	42.0					9																	131071913		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071913G>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.912C>A	9.37:g.131071913G>T			Somatic				TRUB2_ENST00000546104.1_Silent_p.T248T	p.T304T	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1245	-			304					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.912C>A	CCDS6897.1																																																																																				0.657	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		23	62	1	0	1.50039e-11	1	1.63868e-11	23	62				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000526063.1_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			Somatic				RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site		NM_012250.5	NP_036382.2	WXS	Illumina GAIIx	Phase_I	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	24	253	0	0	0	1	0	24	253				
NRROS	375387	broad.mit.edu	37	3	196388145	196388145	+	Missense_Mutation	SNP	C	C	T	rs200884430		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:196388145C>T	ENST00000328557.4	+	3	1834	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	544					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTAGATCTGTCGGGGAATTGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18394	0.0		0.0	False		,,,				2504	0.001					ENST00000328557.4																			0											c.(1630-1632)tCg>tTg		negative regulator of reactive oxygen species		C	LEU/SER	0,4406		0,0,2203	105.0	107.0	107.0		1631	6.0	1.0	3		107	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LRRC33	NM_198565.1	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	544/693	196388145	2,13004	2203	4300	6503	SO:0001583	missense	375387							g.chr3:196388145C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1631C>T	3.37:g.196388145C>T	ENSP00000328625:p.Ser544Leu		Somatic					p.S544L	NM_198565.1	NP_940967.1	WXS	Illumina GAIIx	Phase_I					3	1834	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1631C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090069	0.55968	0.0	2.33E-4	ENSG00000174004	ENST00000328557	T	0.59224	0.28	5.97	5.97	0.96955	.	0.070529	0.64402	D	0.000013	T	0.81475	0.4830	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.83394	0.0019	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	544	Q86YC3	LRC33_HUMAN	L	544	ENSP00000328625:S544L	ENSP00000328625:S544L	S	+	2	0	LRRC33	197872542	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	5.557000	0.67313	2.836000	0.97738	0.655000	0.94253	TCG		0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		30	79	0	0	0	1	0	30	79				
IGHV3-15	28448	broad.mit.edu	37	14	106610826	106610826	+	RNA	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:106610826C>T	ENST00000390603.2	-	0	26									immunoglobulin heavy variable 3-15																		TTGGGAATCCCAAGGCTGGGG	0.507																																						ENST00000390603.2																			0																				30.0	24.0	26.0					14																	106610826		692	1588	2280			28448							g.chr14:106610826C>T	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610826C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	26	-									RNA	SNP	ENST00000390603.2	37																																																																																						0.507	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		35	140	0	0	0	1	0	35	140				
TBC1D15	64786	broad.mit.edu	37	12	72307604	72307604	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:72307604A>T	ENST00000550746.1	+	13	1415		c.e13-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTCTTTTTAGGATATGTTC	0.353																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e13-1		TBC1 domain family, member 15							84.0	92.0	89.0					12																	72307604		2203	4300	6503	SO:0001630	splice_region_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72307604A>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1352-1A>T	12.37:g.72307604A>T			Somatic				TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site		NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	WXS	Illumina GAIIx	Phase_I	Q8TC07	TBC15_HUMAN			13	1415	+								B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37		CCDS31858.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552667	0.65425	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6913	0.77457	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70593871	1.000000	0.71417	0.992000	0.48379	0.242000	0.25591	9.257000	0.95545	2.113000	0.64589	0.528000	0.53228	.		0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Intron	6	289	0	0	0	1	0	6	289				
KLHL23	151230	broad.mit.edu	37	2	170598013	170598013	+	Silent	SNP	C	C	T	rs539851773		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:170598013C>T	ENST00000392647.2	+	3	1576	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	KLHL23_ENST00000272797.4_Silent_p.N444N|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	444										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCGATATCAACGAATGGAGCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19350	0.0		0.0	False		,,,				2504	0.001					ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1330-1332)aaC>aaT		kelch-like family member 23							166.0	142.0	150.0					2																	170598013		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170598013C>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1332C>T	2.37:g.170598013C>T			Somatic				KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Silent_p.N444N	p.N444N	NM_144711.5	NP_653312.2	WXS	Illumina GAIIx	Phase_I	Q8NBE8	KLH23_HUMAN			3	1576	+			444					Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.1332C>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145200	0.21288	.	.	ENSG00000213160	ENST00000448589	.	.	.	5.77	-4.91	0.03085	.	.	.	.	.	T	0.58264	0.2110	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63980	-0.6514	3	.	.	.	.	16.821	0.85746	0.0:0.6769:0.0:0.3231	.	.	.	.	M	4	.	.	T	+	2	0	KLHL23	170306259	0.061000	0.20836	0.983000	0.44433	0.955000	0.61496	-0.664000	0.05292	-0.768000	0.04626	0.650000	0.86243	ACG		0.428	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		4	28	0	0	0	1	0	4	28				
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T	rs560662752		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic					p.*802K	NM_012406.3	NP_036538.3	WXS	Illumina GAIIx	Phase_I	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		8	197	0	0	0	1	0	8	197				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	798					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTTCTTGGTTACTTGCTGAAT	0.458																																						ENST00000263805.4																			0											c.(2392-2394)gTa>gAa		zinc finger protein 106							198.0	191.0	194.0					15																	42742008		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742008A>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2393T>A	15.37:g.42742008A>T	ENSP00000263805:p.Val798Glu		Somatic				ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	p.V798E	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					2	2719	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2393T>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254848	0.80135	.	.	ENSG00000103994	ENST00000263805	T	0.57107	0.42	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.70500	0.3231	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.73408	-0.3992	10	0.87932	D	0	-17.0572	16.1811	0.81903	1.0:0.0:0.0:0.0	.	581;798	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	E	798	ENSP00000263805:V798E	ENSP00000263805:V798E	V	-	2	0	ZFP106	40529300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.218000	0.71995	0.528000	0.53228	GTA		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		11	482	0	0	0	1	0	11	482				
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(2803-2805)aaT>aaA		ubiquitin protein ligase E3 component n-recognin 5							137.0	133.0	135.0					8																	103317335		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103317335A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2805T>A	8.37:g.103317335A>T	ENSP00000429084:p.Asn935Lys		Somatic				UBR5_ENST00000521922.1_Missense_Mutation_p.N929K|UBR5_ENST00000220959.4_Missense_Mutation_p.N935K	p.N935K	NM_015902.5	NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		21	3411	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		935					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2805T>A	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.387229|4.387229	0.82902|0.82902	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922|ENST00000520898;ENST00000519365	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	5.41|5.41	3.07|3.07	0.35406|0.35406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60117|.	0.2244|.	M|M	0.66297|0.66297	2.02|2.02	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.57899|.	0.981;0.981|.	D;D|.	0.65140|.	0.932;0.932|.	T|.	0.56842|.	-0.7912|.	10|.	0.87932|.	D|.	0|.	.|.	5.8283|5.8283	0.18566|0.18566	0.6161:0.0:0.3839:0.0|0.6161:0.0:0.3839:0.0	.|.	929;935|.	E7EMW7;O95071|.	.;UBR5_HUMAN|.	K|K	935;935;929|26;51	ENSP00000429084:N935K;ENSP00000220959:N935K;ENSP00000427819:N929K|.	ENSP00000220959:N935K|.	N|X	-|-	3|1	2|0	UBR5|UBR5	103386511|103386511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.437000|3.437000	0.52863|0.52863	0.906000|0.906000	0.36621|0.36621	0.254000|0.254000	0.18369|0.18369	AAT|TAA		0.358	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		5	256	0	0	0	1	0	5	256				
C14orf37	145407	broad.mit.edu	37	14	58604706	58604706	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:58604706A>T	ENST00000267485.7	-	2	1564		c.e2+1		C14orf37_ENST00000334342.5_Splice_Site	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTTTCTTTTACCTTTCATTG	0.323																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.e2+1		chromosome 14 open reading frame 37							49.0	52.0	51.0					14																	58604706		2203	4300	6503	SO:0001630	splice_region_variant	145407					integral to membrane	binding	g.chr14:58604706A>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1369+1T>A	14.37:g.58604706A>T			Somatic				C14orf37_ENST00000334342.5_Splice_Site		NM_001001872.2	NP_001001872.2	WXS	Illumina GAIIx	Phase_I	Q86TY3	CN037_HUMAN			2	1564	-								A8K8Z8|Q6P5Q1|Q86TY1	Splice_Site	SNP	ENST00000267485.7	37		CCDS32089.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559634	0.65538	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf37	57674459	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.883000	0.63128	2.288000	0.76882	0.533000	0.62120	.		0.323	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	Intron	5	179	0	0	0	1	0	5	179				
LITAF	9516	broad.mit.edu	37	16	11650593	11650593	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:11650593T>A	ENST00000571688.1	-	2	226		c.e2-2		LITAF_ENST00000571976.1_Splice_Site|LITAF_ENST00000381810.3_Splice_Site|LITAF_ENST00000571459.1_Splice_Site|LITAF_ENST00000576036.1_Splice_Site|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Splice_Site|LITAF_ENST00000570904.1_Splice_Site|LITAF_ENST00000339430.5_Splice_Site|LITAF_ENST00000574763.1_Splice_Site|LITAF_ENST00000574703.1_Splice_Site	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor						aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						ACATTTTACCTAAAACAGAAA	0.443																																						ENST00000571688.1																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						c.e2-2		lipopolysaccharide-induced TNF factor							55.0	53.0	53.0					16																	11650593		2197	4300	6497	SO:0001630	splice_region_variant	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11650593T>A	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.5-2A>T	16.37:g.11650593T>A			Somatic				LITAF_ENST00000570904.1_Splice_Site|LITAF_ENST00000413364.2_Splice_Site|LITAF_ENST00000381810.3_Splice_Site|LITAF_ENST00000339430.5_Splice_Site|LITAF_ENST00000574703.1_Splice_Site|LITAF_ENST00000576036.1_Splice_Site|LITAF_ENST00000574763.1_Splice_Site|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000571976.1_Splice_Site|LITAF_ENST00000571459.1_Splice_Site		NM_001136472.1	NP_001129944.1	WXS	Illumina GAIIx	Phase_I	Q99732	LITAF_HUMAN			2	226	-								D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Splice_Site	SNP	ENST00000571688.1	37		CCDS32386.1																																																																																				0.443	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862	Intron	4	116	0	0	0	1	0	4	116				
NAA15	80155	broad.mit.edu	37	4	140281033	140281033	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:140281033G>T	ENST00000296543.5	+	12	1717	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	NAA15_ENST00000398947.1_Missense_Mutation_p.C465F	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	465					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAAATGTGCTCAAAGTTT	0.368																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1393-1395)tGc>tTc		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							73.0	69.0	70.0					4																	140281033		1892	4135	6027	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140281033G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1394G>T	4.37:g.140281033G>T	ENSP00000296543:p.Cys465Phe		Somatic				NAA15_ENST00000398947.1_Missense_Mutation_p.C465F	p.C465F	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ9	NAA15_HUMAN			12	1717	+			465					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1394G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613986	0.87359	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.46451	0.87;0.87	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	L	0.53617	1.68	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.50725	-0.8794	10	0.27082	T	0.32	-5.249	20.1951	0.98241	0.0:0.0:1.0:0.0	.	465	Q9BXJ9	NAA15_HUMAN	F	465;339;465	ENSP00000296543:C465F;ENSP00000381920:C465F	ENSP00000296543:C465F	C	+	2	0	NAA15	140500483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.345000	0.97053	2.780000	0.95670	0.585000	0.79938	TGC		0.368	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		36	44	1	0	1.60099e-16	1	1.78978e-16	36	44				
OVGP1	5016	broad.mit.edu	37	1	111968039	111968039	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:111968039G>A	ENST00000369732.3	-	4	338	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.L35L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	95					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCGATGGACAGTAGTGTTTTC	0.517																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(283-285)Ctg>Ttg		oviductal glycoprotein 1, 120kDa							137.0	109.0	119.0					1																	111968039		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111968039G>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.283C>T	1.37:g.111968039G>A			Somatic				OVGP1_ENST00000540696.1_Silent_p.L35L	p.L95L	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	4	338	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	95					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.283C>T	CCDS834.1																																																																																				0.517	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		11	58	0	0	0	1	0	11	58				
G6PC3	92579	broad.mit.edu	37	17	42152400	42152400	+	Silent	SNP	G	G	A	rs145419406		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:42152400G>A	ENST00000269097.4	+	4	711	c.480G>A	c.(478-480)tcG>tcA	p.S160S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	160					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGGCTTGTCGCGAATCTTCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18752	0.001		0.0	False		,,,				2504	0.0					ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(478-480)tcG>tcA		glucose 6 phosphatase, catalytic, 3		G		1,4405	2.1+/-5.4	0,1,2202	234.0	219.0	224.0		480	-5.2	0.9	17	dbSNP_134	224	0,8600		0,0,4300	no	coding-synonymous	G6PC3	NM_138387.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		160/347	42152400	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152400G>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.480G>A	17.37:g.42152400G>A			Somatic					p.S160S	NM_138387.3	NP_612396.1	WXS	Illumina GAIIx	Phase_I	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	711	+		Breast(137;0.00637)|Prostate(33;0.0313)	160					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.480G>A	CCDS11476.1																																																																																				0.557	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		20	127	0	0	0	1	0	20	127				
DICER1	23405	broad.mit.edu	37	14	95572562	95572562	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:95572562T>A	ENST00000526495.1	-	20	3096		c.e20-2		DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000527414.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGCGATATCTAAAAAAGAAA	0.308			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.e20-2		dicer 1, ribonuclease type III							40.0	43.0	42.0					14																	95572562		2201	4299	6500	SO:0001630	splice_region_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572562T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2805-2A>T	14.37:g.95572562T>A			Somatic				DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000527414.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3096	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)						A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37		CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680624	0.68042	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.696	0.77499	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DICER1	94642315	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	8.008000	0.88588	2.104000	0.64026	0.533000	0.62120	.		0.308	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Intron	4	85	0	0	0	1	0	4	85				
ATRX	546	broad.mit.edu	37	X	76938444	76938444	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:76938444C>G	ENST00000373344.5	-	9	2518	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K730N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	768					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCGCCTGAGTCTTTAAATCAT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2302-2304)aaG>aaC		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						124.0	127.0	126.0					X																	76938444		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938444C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2304G>C	X.37:g.76938444C>G	ENSP00000362441:p.Lys768Asn		Somatic				ATRX_ENST00000395603.3_Missense_Mutation_p.K730N|ATRX_ENST00000480283.1_5'UTR	p.K768N	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			9	2518	-			768					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2304G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	1.027	-0.682894	0.03353	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.16;-3.19	5.95	1.12	0.20585	.	0.247189	0.39544	N	0.001326	D	0.92041	0.7478	L	0.48642	1.525	0.21064	N	0.999798	P;D;B;P	0.57257	0.747;0.979;0.001;0.747	B;P;B;B	0.56700	0.327;0.804;0.004;0.327	D	0.85036	0.0920	10	0.72032	D	0.01	-1.3748	5.2697	0.15618	0.0:0.4789:0.1317:0.3894	.	768;700;730;768	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	768;730;695	ENSP00000362441:K768N;ENSP00000378967:K730N	ENSP00000362441:K768N	K	-	3	2	ATRX	76825100	0.314000	0.24563	0.047000	0.18901	0.323000	0.28346	0.741000	0.26202	-0.225000	0.09913	0.513000	0.50165	AAG		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	156	0	0	0	1	0	17	156				
SNRNP25	79622	broad.mit.edu	37	16	106598	106598	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:106598G>T	ENST00000383018.3	+	4	487	c.326G>T	c.(325-327)aGa>aTa	p.R109I	POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	109	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						ACGGAAGACAGAAAGAAGCTC	0.597																																						ENST00000383018.3																			0				large_intestine(1)|lung(2)	3						c.(325-327)aGa>aTa		small nuclear ribonucleoprotein 25kDa (U11/U12)							110.0	102.0	105.0					16																	106598		2203	4300	6503	SO:0001583	missense	79622				mRNA processing	U12-type spliceosomal complex		g.chr16:106598G>T	BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.326G>T	16.37:g.106598G>T	ENSP00000372482:p.Arg109Ile		Somatic					p.R109I	NM_024571.3	NP_078847.1	WXS	Illumina GAIIx	Phase_I	Q9BV90	SNR25_HUMAN			4	487	+			109			Ubiquitin-like.		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	ENST00000383018.3	37	c.326G>T	CCDS10396.1	.	.	.	.	.	.	.	.	.	.	.	7.298	0.612481	0.14066	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	T;T;T	0.11821	2.74;2.74;2.74	5.62	1.46	0.22682	Ubiquitin supergroup (1);	0.577170	0.19162	N	0.121167	T	0.11965	0.0291	L	0.50333	1.59	0.42954	D	0.994381	B	0.20671	0.047	B	0.12837	0.008	T	0.09443	-1.0674	10	0.38643	T	0.18	-0.8171	7.9746	0.30147	0.2619:0.1083:0.6299:0.0	.	109	Q9BV90	SNR25_HUMAN	I	100;109;92	ENSP00000293861:R100I;ENSP00000372482:R109I;ENSP00000391289:R92I	ENSP00000293861:R100I	R	+	2	0	SNRNP25	46598	0.396000	0.25262	0.982000	0.44146	0.536000	0.34869	-0.053000	0.11846	-0.124000	0.11724	-0.797000	0.03246	AGA		0.597	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024571		10	29	1	0	3.03607e-14	1	3.36238e-14	10	29				
ARPC2	10109	broad.mit.edu	37	2	219099073	219099073	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:219099073A>T	ENST00000295685.10	+	4	483		c.e4-1		ARPC2_ENST00000315717.5_Splice_Site	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTTATTTTCTAGTTATTAAAG	0.363																																						ENST00000295685.10																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.e4-1		actin related protein 2/3 complex, subunit 2, 34kDa							101.0	105.0	103.0					2																	219099073		2203	4299	6502	SO:0001630	splice_region_variant	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099073A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.223-1A>T	2.37:g.219099073A>T			Somatic				ARPC2_ENST00000315717.5_Splice_Site		NM_005731.2	NP_005722.1	WXS	Illumina GAIIx	Phase_I	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	4	483	+		Renal(207;0.0474)						Q92801|Q9P1D4	Splice_Site	SNP	ENST00000295685.10	37		CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758264	0.69763	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARPC2	218807318	1.000000	0.71417	0.985000	0.45067	0.833000	0.47200	7.690000	0.84178	2.281000	0.76405	0.533000	0.62120	.		0.363	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	Intron	4	130	0	0	0	1	0	4	130				
PPIL4	85313	broad.mit.edu	37	6	149833372	149833372	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:149833372A>T	ENST00000253329.2	-	12	1178	c.1146T>A	c.(1144-1146)agT>agA	p.S382R	PPIL4_ENST00000340881.2_Missense_Mutation_p.V15E	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	382	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TGTGTTTTTTACTTGTGTGTG	0.358																																						ENST00000253329.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(1144-1146)agT>agA		peptidylprolyl isomerase (cyclophilin)-like 4							245.0	227.0	233.0					6																	149833372		2203	4300	6503	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149833372A>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1146T>A	6.37:g.149833372A>T	ENSP00000253329:p.Ser382Arg		Somatic				PPIL4_ENST00000340881.2_Missense_Mutation_p.V15E	p.S382R	NM_139126.3	NP_624311.1	WXS	Illumina GAIIx	Phase_I	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	12	1178	-		Ovarian(120;0.0164)	382			Lys-rich.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.1146T>A	CCDS34550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.45|12.45	1.942419|1.942419	0.34283|0.34283	.|.	.|.	ENSG00000131013|ENSG00000131013	ENST00000253329|ENST00000340881	T|.	0.12774|.	2.65|.	6.05|6.05	2.35|2.35	0.29111|0.29111	.|.	0.383935|.	0.32134|.	N|.	0.006529|.	T|T	0.09642|0.09642	0.0237|0.0237	N|N	0.14661|0.14661	0.345|0.345	0.25945|0.25945	N|N	0.982822|0.982822	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.20107|0.20107	-1.0285|-1.0285	10|6	0.15066|0.87932	T|D	0.55|0	.|.	5.0459|5.0459	0.14483|0.14483	0.6405:0.1469:0.2126:0.0|0.6405:0.1469:0.2126:0.0	.|.	382|.	Q8WUA2|.	PPIL4_HUMAN|.	R|E	382|15	ENSP00000253329:S382R|.	ENSP00000253329:S382R|ENSP00000344128:V15E	S|V	-|-	3|2	2|0	PPIL4|PPIL4	149875065|149875065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.846000|0.846000	0.27682|0.27682	0.501000|0.501000	0.28013|0.28013	0.523000|0.523000	0.50628|0.50628	AGT|GTA		0.358	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			6	248	0	0	0	1	0	6	248				
XDH	7498	broad.mit.edu	37	2	31621532	31621532	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:31621532C>T	ENST00000379416.3	-	5	388	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	114					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTGCAGAACCCGCACTGGGAG	0.552																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(340-342)Ggg>Agg		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						118.0	121.0	120.0					2																	31621532		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31621532C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.340G>A	2.37:g.31621532C>T	ENSP00000368727:p.Gly114Arg		Somatic					p.G114R	NM_000379.3	NP_000370.2	WXS	Illumina GAIIx	Phase_I	P47989	XDH_HUMAN			5	388	-	Acute lymphoblastic leukemia(172;0.155)		114					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.340G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386904	0.82902	.	.	ENSG00000158125	ENST00000379416	D	0.81499	-1.5	6.16	6.16	0.99307	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96003	0.8995	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	114	P47989	XDH_HUMAN	R	114	ENSP00000368727:G114R	ENSP00000368727:G114R	G	-	1	0	XDH	31475036	1.000000	0.71417	0.990000	0.47175	0.227000	0.25037	7.386000	0.79775	2.937000	0.99478	0.650000	0.86243	GGG		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		3	127	0	0	0	1	0	3	127				
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T	rs372520087		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(991-993)Taa>Aaa		exostosin-like glycosyltransferase 2							42.0	47.0	45.0					1																	101339500		2197	4290	6487	SO:0001578	stop_lost	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339500A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.991T>A	1.37:g.101339500A>T			Somatic				EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K	p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina GAIIx	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2427	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	0					B2R795|D3DT60	Nonstop_Mutation	SNP	ENST00000370114.3	37	c.991T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760436	0.49468	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	.	.	.	K	331;331;318	.	.	X	-	1	0	EXTL2	101112088	1.000000	0.71417	0.915000	0.36163	0.555000	0.35460	7.681000	0.84073	2.280000	0.76307	0.460000	0.39030	TAA		0.303	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		4	86	0	0	0	1	0	4	86				
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(643-645)agT>agA		ring finger protein 168, E3 ubiquitin protein ligase							223.0	213.0	216.0					3																	196210676		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210676A>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.645T>A	3.37:g.196210676A>T	ENSP00000320898:p.Ser215Arg		Somatic					p.S215R	NM_152617.3	NP_689830.2	WXS	Illumina GAIIx	Phase_I	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1239	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		215					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.645T>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.459584	0.26248	.	.	ENSG00000163961	ENST00000318037	T	0.07114	3.22	6.06	3.66	0.41972	.	0.427326	0.21827	N	0.068526	T	0.08447	0.0210	M	0.63428	1.95	0.32275	N	0.568292	B	0.12630	0.006	B	0.10450	0.005	T	0.12967	-1.0527	10	0.15952	T	0.53	-2.4676	5.9656	0.19322	0.5946:0.3244:0.081:0.0	.	215	Q8IYW5	RN168_HUMAN	R	215	ENSP00000320898:S215R	ENSP00000320898:S215R	S	-	3	2	RNF168	197695073	0.999000	0.42202	0.979000	0.43373	0.962000	0.63368	0.819000	0.27308	1.071000	0.40834	0.533000	0.62120	AGT		0.363	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		6	204	0	0	0	1	0	6	204				
ADCY8	114	broad.mit.edu	37	8	131812706	131812706	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:131812706C>A	ENST00000286355.5	-	15	5118	c.3026G>T	c.(3025-3027)cGc>cTc	p.R1009L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R878L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1009					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)			ATTGAGCAAGCGCAGGCATTC	0.443										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.(3025-3027)cGc>cTc		adenylate cyclase 8 (brain)							184.0	165.0	172.0					8																	131812706		2203	4300	6503	SO:0001583	missense	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.chr8:131812706C>A	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.3026G>T	8.37:g.131812706C>A	ENSP00000286355:p.Arg1009Leu	HNSCC(32;0.087)	Somatic				ADCY8_ENST00000377928.3_Missense_Mutation_p.R878L	p.R1009L	NM_001115.2	NP_001106.1	WXS	Illumina GAIIx	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	5118	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1009						Missense_Mutation	SNP	ENST00000286355.5	37	c.3026G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143045	0.94560	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.81908	-1.55;-1.55	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.90913	0.7144	M	0.75884	2.315	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92036	0.5637	10	0.87932	D	0	.	17.5783	0.87957	0.0:1.0:0.0:0.0	.	878;1009	E7EVL1;P40145	.;ADCY8_HUMAN	L	1009;878	ENSP00000286355:R1009L;ENSP00000367161:R878L	ENSP00000286355:R1009L	R	-	2	0	ADCY8	131881888	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.814000	0.86154	2.360000	0.80028	0.557000	0.71058	CGC		0.443	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	1049	1	0	0.0809354	1	0.0816242	13	1049				
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:22180791A>T	ENST00000390424.2	+	0	74				AE000658.31_ENST00000542992.1_lincRNA					T cell receptor alpha variable 2																		TGTTTTCTGTAGTTGCAGAAA	0.418																																						ENST00000390424.2																			0																				81.0	76.0	77.0					14																	22180791		1864	4108	5972			28691							g.chr14:22180791A>T	AE000658		14q11.2	2012-02-07			ENSG00000211776	ENSG00000211776		"""T cell receptors / TRA locus"""	12116	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168980		14.37:g.22180791A>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	74	+									RNA	SNP	ENST00000390424.2	37																																																																																						0.418	TRAV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401875.1	NG_001332		5	218	0	0	0	1	0	5	218				
EMB	133418	broad.mit.edu	37	5	49699039	49699039	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:49699039A>T	ENST00000303221.5	-	6	1065	c.850T>A	c.(850-852)Tac>Aac	p.Y284N	EMB_ENST00000514111.1_Missense_Mutation_p.Y234N|EMB_ENST00000506190.1_5'Flank|EMB_ENST00000508934.1_Missense_Mutation_p.Y230N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	284					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTGTGTGTACTTTTCACAA	0.343																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(850-852)Tac>Aac		embigin							31.0	34.0	33.0					5																	49699039		2201	4295	6496	SO:0001583	missense	133418					integral to membrane		g.chr5:49699039A>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.850T>A	5.37:g.49699039A>T	ENSP00000302289:p.Tyr284Asn		Somatic				EMB_ENST00000514111.1_Missense_Mutation_p.Y234N|EMB_ENST00000508934.1_Missense_Mutation_p.Y230N	p.Y284N	NM_198449.2	NP_940851.1	WXS	Illumina GAIIx	Phase_I	Q6PCB8	EMB_HUMAN			6	1065	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	284					B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.850T>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466505	0.43839	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.44881	0.91;0.96;0.95	4.92	2.51	0.30379	.	0.504142	0.23206	N	0.050735	T	0.37073	0.0990	L	0.55481	1.735	0.38463	D	0.947278	D;D	0.56521	0.976;0.96	P;P	0.47470	0.524;0.548	T	0.30090	-0.9990	9	.	.	.	-7.3069	3.1608	0.06520	0.6335:0.0:0.191:0.1754	.	230;284	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	284;256;230;234	ENSP00000302289:Y284N;ENSP00000425215:Y230N;ENSP00000426404:Y234N	.	Y	-	1	0	EMB	49734796	0.889000	0.30405	0.979000	0.43373	0.903000	0.53119	1.691000	0.37721	0.825000	0.34637	0.454000	0.30748	TAC		0.343	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		4	117	0	0	0	1	0	4	117				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	18	179	0	0	0	1	0	18	179				
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:82935895A>T	ENST00000393392.2	+	6	664		c.e6-1		ANKRD42_ENST00000531895.1_Splice_Site|ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000260047.6_Splice_Site	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333																																						ENST00000260047.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e6-1		ankyrin repeat domain 42							53.0	53.0	53.0					11																	82935895		2203	4300	6503	SO:0001630	splice_region_variant	338699							g.chr11:82935895A>T	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.503-1A>T	11.37:g.82935895A>T			Somatic				ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site|ANKRD42_ENST00000393392.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			6	1378	+								Q49A49	Splice_Site	SNP	ENST00000393392.2	37		CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727243	0.69074	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8967	0.70649	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD42	82613543	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	6.289000	0.72696	2.154000	0.67381	0.533000	0.62120	.		0.333	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	Intron	14	308	0	0	0	1	0	14	308				
TTLL1	25809	broad.mit.edu	37	22	43447837	43447837	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:43447837G>A	ENST00000266254.7	-	9	1188	c.948C>T	c.(946-948)atC>atT	p.I316I	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Intron	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	316	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCTTGTCGTCGATGATGATGT	0.562																																						ENST00000266254.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(946-948)atC>atT		tubulin tyrosine ligase-like family, member 1							298.0	212.0	241.0					22																	43447837		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43447837G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.948C>T	22.37:g.43447837G>A			Somatic				TTLL1_ENST00000331018.7_Intron|AL022476.2_ENST00000443063.1_RNA	p.I316I	NM_012263.4	NP_036395.1	WXS	Illumina GAIIx	Phase_I	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1188	-		Ovarian(80;0.0694)	316			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.948C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518748	0.27211	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.97	-7.05	0.01573	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41610	-0.9499	4	.	.	.	.	1.5501	0.02573	0.3533:0.0856:0.3023:0.2587	.	.	.	.	L	242	.	.	S	-	2	0	TTLL1	41777781	0.516000	0.26218	0.839000	0.33178	0.986000	0.74619	-0.135000	0.10420	-1.072000	0.03141	-0.940000	0.02684	TCG		0.562	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		10	249	0	0	0	1	0	10	249				
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCCCCAGACGGACGTGAGT	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(280-282)aCg>aTg		protein kinase C, gamma							73.0	68.0	69.0					19																	54387493		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387493C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.281C>T	19.37:g.54387493C>T	ENSP00000263431:p.Thr94Met		Somatic				PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	WXS	Illumina GAIIx	Phase_I	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	563	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		94					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.281C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660522	0.67586	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.79141	-1.24;-0.57;-0.57	4.68	4.68	0.58851	.	.	.	.	.	D	0.84750	0.5541	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.61697	0.982;0.986;0.99;0.987	P;P;P;P	0.56514	0.707;0.8;0.608;0.772	D	0.87111	0.2185	9	0.72032	D	0.01	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	M	94;94;94;117	ENSP00000440541:T94M;ENSP00000443493:T94M;ENSP00000263431:T94M	ENSP00000263431:T94M	T	+	2	0	PRKCG	59079305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.332000	0.79248	0.313000	0.20887	ACG		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	202	0	0	0	1	0	4	202				
SNX27	81609	broad.mit.edu	37	1	151640946	151640946	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:151640946A>T	ENST00000458013.2	+	7	1105		c.e7-1		SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000368843.3_Splice_Site|SNX27_ENST00000368838.1_Splice_Site			Q96L92	SNX27_HUMAN	sorting nexin family member 27						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTCCTTTAGTACGTAAAT	0.373																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.e7-1		sorting nexin family member 27							109.0	108.0	109.0					1																	151640946		2203	4300	6503	SO:0001630	splice_region_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151640946A>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.986-1A>T	1.37:g.151640946A>T			Somatic				SNX27_ENST00000458013.2_Splice_Site|SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000368838.1_Splice_Site		NM_030918.5	NP_112180.4	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1105	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)							Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Splice_Site	SNP	ENST00000458013.2	37			.	.	.	.	.	.	.	.	.	.	A	13.73	2.325311	0.41197	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.853	0.63508	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX27	149907570	1.000000	0.71417	0.936000	0.37596	0.305000	0.27757	8.426000	0.90273	2.145000	0.66743	0.254000	0.18369	.		0.373	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	Intron	8	181	0	0	0	1	0	8	181				
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T	rs201921514		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	42					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GGTTGCTCTTATTTCAGTGGG	0.507																																						ENST00000297581.2																			0											c.(124-126)Att>Ttt		dendrocyte expressed seven transmembrane protein							165.0	147.0	153.0					8																	105360904		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360904A>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.124A>T	8.37:g.105360904A>T	ENSP00000297581:p.Ile42Phe		Somatic				DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	p.I42F	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	Q9H295	TM7S4_HUMAN			2	173	+			42					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.124A>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944527	0.53079	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32023	1.47	5.51	-0.00361	0.14025	.	0.482837	0.21524	N	0.073180	T	0.24353	0.0590	M	0.67953	2.075	0.09310	N	0.999999	P	0.50272	0.933	B	0.39706	0.307	T	0.16928	-1.0386	9	.	.	.	-3.3922	4.1896	0.10414	0.3975:0.4141:0.0728:0.1155	.	42	Q9H295	TM7S4_HUMAN	F	42	ENSP00000297581:I42F	.	I	+	1	0	TM7SF4	105430080	0.001000	0.12720	0.025000	0.17156	0.896000	0.52359	-0.063000	0.11655	-0.217000	0.10033	0.533000	0.62120	ATT		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		7	299	0	0	0	1	0	7	299				
WASF3	10810	broad.mit.edu	37	13	27254266	27254266	+	Intron	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:27254266G>A	ENST00000335327.5	+	8	894				WASF3_ENST00000361042.4_Missense_Mutation_p.G212D	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGGAAAATGGGCATTGAGTTT	0.463																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(634-636)gGc>gAc		WAS protein family, member 3							54.0	51.0	52.0					13																	27254266		876	1991	2867	SO:0001627	intron_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27254266G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.717-925G>A	13.37:g.27254266G>A			Somatic				WASF3_ENST00000335327.5_Intron	p.G212D			WXS	Illumina GAIIx	Phase_I	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	860	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	211					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.635G>A	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903486	0.17760	.	.	ENSG00000132970	ENST00000361042	T	0.32753	1.44	5.34	5.34	0.76211	.	.	.	.	.	T	0.22003	0.0530	.	.	.	0.25320	N	0.989121	B	0.02656	0.0	B	0.09377	0.004	T	0.08597	-1.0714	8	0.11485	T	0.65	.	19.0447	0.93015	0.0:0.0:1.0:0.0	.	212	Q86VQ2	.	D	212	ENSP00000354325:G212D	ENSP00000354325:G212D	G	+	2	0	WASF3	26152266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.938000	0.87678	2.504000	0.84457	0.650000	0.86243	GGC		0.463	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			4	104	0	0	0	1	0	4	104				
PCDHAC2	56134	broad.mit.edu	37	5	140348049	140348049	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:140348049C>T	ENST00000289269.5	+	1	2230	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	566	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGCCAACGTATATGTGG	0.537																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1696-1698)aaC>aaT									111.0	100.0	104.0					5																	140348049		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348049C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1698C>T	5.37:g.140348049C>T			Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.N566N	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2230	+			566			Cadherin 5.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1698C>T	CCDS4242.1																																																																																				0.537	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		3	73	0	0	0	1	0	3	73				
MGAM	8972	broad.mit.edu	37	7	141758001	141758001	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:141758001A>T	ENST00000549489.2	+	31	3788		c.e31-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTATTTTCTAGTTGATTGGC	0.428																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e31-1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						248.0	236.0	239.0					7																	141758001		1872	4100	5972	SO:0001630	splice_region_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.chr7:141758001A>T	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.3694-1A>T	7.37:g.141758001A>T			Somatic				MGAM_ENST00000549489.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			31	3747	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37		CCDS47727.1	.	.	.	.	.	.	.	.	.	.	a	13.44	2.236785	0.39498	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4529	0.50164	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141404470	1.000000	0.71417	0.558000	0.28319	0.410000	0.31052	7.048000	0.76606	1.327000	0.45338	0.145000	0.16022	.		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	9	456	0	0	0	1	0	9	456				
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic				MPHOSPH6_ENST00000563504.1_Silent_p.I120I	p.I149I	NM_005792.2	NP_005783.2	WXS	Illumina GAIIx	Phase_I	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		8	379	0	0	0	1	0	8	379				
RGL1	23179	broad.mit.edu	37	1	183891355	183891355	+	Splice_Site	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:183891355G>T	ENST00000360851.3	+	17	2182		c.e17-1		RGL1_ENST00000539189.1_Splice_Site|RGL1_ENST00000536277.1_Splice_Site|RGL1_ENST00000304685.4_Splice_Site			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						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						TGTCTTTGCAGTTGACGAGCC	0.512											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.e18-1		ral guanine nucleotide dissociation stimulator-like 1							68.0	62.0	64.0					1																	183891355		2203	4300	6503	SO:0001630	splice_region_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.chr1:183891355G>T	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.2005-1G>T	1.37:g.183891355G>T			Somatic	OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1987	RGL1_ENST00000360851.3_Splice_Site|RGL1_ENST00000367531.1_Splice_Site|RGL1_ENST00000539189.1_Splice_Site|RGL1_ENST00000536277.1_Splice_Site		NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			18	2570	+								Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Splice_Site	SNP	ENST00000360851.3	37			.	.	.	.	.	.	.	.	.	.	G	21.5	4.156071	0.78114	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8749	0.92331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGL1	182157978	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	9.346000	0.97056	2.614000	0.88457	0.655000	0.94253	.		0.512	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	Intron	3	82	1	0	0.014758	1	0.0149472	3	82				
MARVELD3	91862	broad.mit.edu	37	16	71668262	71668262	+	Silent	SNP	G	G	A	rs142821011	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:71668262G>A	ENST00000268485.3	+	3	806	c.762G>A	c.(760-762)aaG>aaA	p.K254K	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	254	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)				ACGGGGAGAAGGCCCAGCAAC	0.582																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(760-762)aaG>aaA		MARVEL domain containing 3		G	,	1,4395	2.1+/-5.4	0,1,2197	117.0	108.0	111.0		,762	2.4	1.0	16	dbSNP_134	111	11,8589	8.4+/-32.0	0,11,4289	no	intron,coding-synonymous	MARVELD3	NM_001017967.2,NM_052858.3	,	0,12,6486	AA,AG,GG		0.1279,0.0227,0.0923	,	,254/402	71668262	12,12984	2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71668262G>A	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.762G>A	16.37:g.71668262G>A			Somatic				MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	p.K254K	NM_052858.3	NP_443090.4	WXS	Illumina GAIIx	Phase_I	Q96A59	MALD3_HUMAN			3	806	+		Ovarian(137;0.125)	254			MARVEL.		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	c.762G>A	CCDS10904.1																																																																																				0.582	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		5	132	0	0	0	1	0	5	132				
ABCB7	22	broad.mit.edu	37	X	74289224	74289224	+	Silent	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:74289224C>A	ENST00000373394.3	-	11	1438	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ABCB7_ENST00000253577.3_Silent_p.V478V|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Silent_p.V437V			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	477	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTCAAAATGCACATTATCAA	0.468																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1432-1434)gtG>gtT		ATP-binding cassette, sub-family B (MDR/TAP), member 7							111.0	99.0	103.0					X																	74289224		2203	4300	6503	SO:0001819	synonymous_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74289224C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1431G>T	X.37:g.74289224C>A			Somatic				ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Silent_p.V477V|ABCB7_ENST00000339447.4_Silent_p.V437V	p.V478V	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			11	1458	-			477			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.1434G>T																																																																																					0.468	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		13	140	1	0	0.00244969	1	0.00254639	13	140				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_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			Somatic				SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site		NM_017841.2	NP_060311.1	WXS	Illumina GAIIx	Phase_I	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	8	254	0	0	0	1	0	8	254				
NCBP1	4686	broad.mit.edu	37	9	100433385	100433385	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:100433385G>A	ENST00000375147.3	+	23	2533	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	759					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAATAATCCAGCAGTACATGG	0.493																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(2275-2277)caG>caA		nuclear cap binding protein subunit 1, 80kDa							153.0	136.0	142.0					9																	100433385		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433385G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2277G>A	9.37:g.100433385G>A			Somatic					p.Q759Q	NM_002486.4	NP_002477.1	WXS	Illumina GAIIx	Phase_I	Q09161	NCBP1_HUMAN			23	2533	+		Acute lymphoblastic leukemia(62;0.158)	759					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2277G>A	CCDS6728.1																																																																																				0.493	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		6	362	0	0	0	1	0	6	362				
ARHGAP12	94134	broad.mit.edu	37	10	32132516	32132516	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:32132516T>A	ENST00000344936.2	-	7	1405		c.e7-2		ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site|ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000375250.5_Splice_Site	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGCATTATACTAAAACAAAAC	0.363																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.e7-2		Rho GTPase activating protein 12							49.0	49.0	49.0					10																	32132516		2202	4300	6502	SO:0001630	splice_region_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32132516T>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1171-2A>T	10.37:g.32132516T>A			Somatic				ARHGAP12_ENST00000344936.2_Splice_Site|ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site		NM_001270696.1	NP_001257625.1	WXS	Illumina GAIIx	Phase_I	Q8IWW6	RHG12_HUMAN			7	1412	-		Prostate(175;0.0199)						B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Splice_Site	SNP	ENST00000344936.2	37		CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948735	0.53186	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245;ENST00000454919	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0236	0.71650	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP12	32172522	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	4.936000	0.63506	1.947000	0.56498	0.460000	0.39030	.		0.363	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		Intron	5	57	0	0	0	1	0	5	57				
IGHV4-34	28395	broad.mit.edu	37	14	106829684	106829684	+	RNA	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:106829684G>A	ENST00000390616.2	-	0	309									immunoglobulin heavy variable 4-34																		CTGATATGGTGACTCGACTCT	0.567																																						ENST00000390616.2																			0																				146.0	148.0	147.0					14																	106829684		1940	4140	6080			28395							g.chr14:106829684G>A	X92278		14q32.33	2012-02-08			ENSG00000211956	ENSG00000211956		"""Immunoglobulins / IGH locus"""	5650	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152074		14.37:g.106829684G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	309	-									RNA	SNP	ENST00000390616.2	37																																																																																						0.567	IGHV4-34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325168.1	NG_001019		6	400	0	0	0	1	0	6	400				
PRKCB	5579	broad.mit.edu	37	16	24196461	24196461	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:24196461C>T	ENST00000321728.7	+	14	1738	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	PRKCB_ENST00000303531.7_Silent_p.S521S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ATGGGAAGTCCGTGGATTGGT	0.453																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1561-1563)tcC>tcT		protein kinase C, beta	Vitamin E(DB00163)						190.0	178.0	182.0					16																	24196461		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196461C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1563C>T	16.37:g.24196461C>T			Somatic				PRKCB_ENST00000321728.7_Silent_p.S521S	p.S521S	NM_002738.6	NP_002729.2	WXS	Illumina GAIIx	Phase_I	P05771	KPCB_HUMAN			14	1715	+			521			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1563C>T	CCDS10618.1																																																																																				0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		9	178	0	0	0	1	0	9	178				
OR6C3	254786	broad.mit.edu	37	12	55725568	55725568	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:55725568A>T	ENST00000379667.1	+	1	84	c.84A>T	c.(82-84)ttA>ttT	p.L28F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	28					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTCTTTTTATTTATCACGT	0.423																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(82-84)ttA>ttT		olfactory receptor, family 6, subfamily C, member 3							142.0	151.0	148.0					12																	55725568		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725568A>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.84A>T	12.37:g.55725568A>T	ENSP00000368989:p.Leu28Phe		Somatic					p.L28F	NM_054104.1	NP_473445.1	WXS	Illumina GAIIx	Phase_I	Q9NZP0	OR6C3_HUMAN			1	84	+			28						Missense_Mutation	SNP	ENST00000379667.1	37	c.84A>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702933	0.88924	.	.	ENSG00000205329	ENST00000379667	T	0.00012	9.3	4.82	-7.43	0.01383	.	0.000000	0.32328	N	0.006257	T	0.00073	0.0002	N	0.02420	-0.555	0.09310	N	1	D	0.57899	0.981	D	0.63793	0.918	T	0.59198	-0.7499	10	0.59425	D	0.04	.	1.9968	0.03458	0.1246:0.2875:0.305:0.2829	.	28	Q9NZP0	OR6C3_HUMAN	F	28	ENSP00000368989:L28F	ENSP00000368989:L28F	L	+	3	2	OR6C3	54011835	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-3.716000	0.00385	-1.315000	0.02297	0.378000	0.23410	TTA		0.423	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			7	301	0	0	0	1	0	7	301				
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:117644000A>T	ENST00000369466.4	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e23-1		transcription termination factor, RNA polymerase II							62.0	74.0	70.0					1																	117644000		2199	4299	6498	SO:0001630	splice_region_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117644000A>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3345-1A>T	1.37:g.117644000A>T			Somatic				TTF2_ENST00000480701.1_Splice_Site		NM_003594.3	NP_003585.3	WXS	Illumina GAIIx	Phase_I	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	23	3388	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)						A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Splice_Site	SNP	ENST00000369466.4	37		CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210087	0.58343	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3131	0.66429	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTF2	117445523	1.000000	0.71417	0.854000	0.33618	0.615000	0.37417	8.778000	0.91785	2.322000	0.78497	0.528000	0.53228	.		0.299	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		Intron	5	81	0	0	0	1	0	5	81				
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:42819403A>T	ENST00000301204.3	+	7	610	c.569A>T	c.(568-570)tAc>tTc	p.Y190F	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y214F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	190					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537																																						ENST00000598766.1																			1	Substitution - Missense(1)	p.Y190F(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(640-642)tAc>tTc		transmembrane protein 145							183.0	159.0	167.0					19																	42819403		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819403A>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.569A>T	19.37:g.42819403A>T	ENSP00000301204:p.Tyr190Phe		Somatic				TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F	p.Y214F			WXS	Illumina GAIIx	Phase_I	Q8NBT3	TM145_HUMAN			7	641	+		Prostate(69;0.00682)	190						Missense_Mutation	SNP	ENST00000301204.3	37	c.641A>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705338	0.48412	.	.	ENSG00000167619	ENST00000301204	T	0.42131	0.98	4.2	4.2	0.49525	Rhodopsin-like GPCR transmembrane domain (1);	0.168624	0.39985	N	0.001204	T	0.34221	0.0890	L	0.53249	1.67	0.47476	D	0.999434	B	0.34181	0.44	B	0.32342	0.144	T	0.10268	-1.0637	10	0.21540	T	0.41	-4.2249	9.9465	0.41611	1.0:0.0:0.0:0.0	.	190	Q8NBT3	TM145_HUMAN	F	190	ENSP00000301204:Y190F	ENSP00000301204:Y190F	Y	+	2	0	TMEM145	47511243	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.918000	0.63376	1.658000	0.50742	0.374000	0.22700	TAC		0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		9	307	0	0	0	1	0	9	307				
TWISTNB	221830	broad.mit.edu	37	7	19744489	19744489	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:19744489T>A	ENST00000222567.5	-	2	379	c.309A>T	c.(307-309)ggA>ggT	p.G103G	MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	103					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CATAAATATCTCCAAGCTCTC	0.358																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(307-309)ggA>ggT		TWIST neighbor							91.0	90.0	91.0					7																	19744489		2203	4300	6503	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19744489T>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.309A>T	7.37:g.19744489T>A			Somatic					p.G103G	NM_001002926.1	NP_001002926.1	WXS	Illumina GAIIx	Phase_I	Q3B726	RPA43_HUMAN			2	379	-			103					A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.309A>T	CCDS34606.1																																																																																				0.358	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			10	188	0	0	0	1	0	10	188				
GIGYF2	26058	broad.mit.edu	37	2	233710440	233710440	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:233710440A>T	ENST00000409547.1	+	28	3616		c.e28-1		GIGYF2_ENST00000373566.3_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTTTTGCTTTAGTAAATCTGT	0.358																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.e27-1		GRB10 interacting GYF protein 2							81.0	84.0	83.0					2																	233710440		2203	4300	6503	SO:0001630	splice_region_variant	26058				cell death		protein binding	g.chr2:233710440A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3306-1A>T	2.37:g.233710440A>T			Somatic				GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409547.1_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3568	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)						A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Splice_Site	SNP	ENST00000409547.1	37		CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825909	0.71143	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9733	0.80036	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIGYF2	233418684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.650000	0.91073	2.164000	0.68074	0.533000	0.62120	.		0.358	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	Intron	4	92	0	0	0	1	0	4	92				
ITGA7	3679	broad.mit.edu	37	12	56090749	56090749	+	Silent	SNP	G	G	A	rs570999139		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56090749G>A	ENST00000555728.1	-	13	1831	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	ITGA7_ENST00000347027.6_Silent_p.A551A|ITGA7_ENST00000394229.2_Silent_p.A557A|ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000257880.7_Silent_p.A601A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000452168.2_Silent_p.A464A|ITGA7_ENST00000394230.2_Silent_p.A561A			Q13683	ITA7_HUMAN	integrin, alpha 7	601					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGTGCCCGAGGCCTGGTGCT	0.607																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1801-1803)gcC>gcT		integrin, alpha 7							75.0	66.0	69.0					12																	56090749		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56090749G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1803C>T	12.37:g.56090749G>A			Somatic				ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000555728.1_Silent_p.A601A|ITGA7_ENST00000452168.2_Silent_p.A464A|ITGA7_ENST00000347027.6_Silent_p.A551A|ITGA7_ENST00000394230.2_Silent_p.A561A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000394229.2_Silent_p.A557A	p.A601A			WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			13	2022	-			601					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.1803C>T																																																																																					0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		8	109	0	0	0	1	0	8	109				
B3GNT3	10331	broad.mit.edu	37	19	17922535	17922535	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:17922535C>T	ENST00000318683.6	+	3	870	c.723C>T	c.(721-723)aaC>aaT	p.N241N	B3GNT3_ENST00000595387.1_Silent_p.N241N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	241					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGATCCAAAACGTGGGCCCCA	0.567																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(721-723)aaC>aaT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							72.0	68.0	69.0					19																	17922535		2203	4300	6503	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922535C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.723C>T	19.37:g.17922535C>T			Somatic				B3GNT3_ENST00000595387.1_Silent_p.N241N	p.N241N	NM_014256.3	NP_055071.2	WXS	Illumina GAIIx	Phase_I	Q9Y2A9	B3GN3_HUMAN			3	870	+			241					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.723C>T	CCDS12364.1																																																																																				0.567	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		36	36	0	0	0	1	0	36	36				
ZNF257	113835	broad.mit.edu	37	19	22270777	22270777	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:22270777A>T	ENST00000594947.1	+	4	370		c.e4-1		ZNF257_ENST00000600162.1_Splice_Site	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATTTCTTTTAGTTATGTGTT	0.299																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.e4-1		zinc finger protein 257							36.0	37.0	37.0					19																	22270777		1885	4131	6016	SO:0001630	splice_region_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22270777A>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.227-1A>T	19.37:g.22270777A>T			Somatic				ZNF257_ENST00000600162.1_Splice_Site		NM_033468.2	NP_258429.2	WXS	Illumina GAIIx	Phase_I	Q9Y2Q1	ZN257_HUMAN			4	370	+		all_lung(12;0.0961)|Lung NSC(12;0.103)						B3KPS4|E9PG34|Q8NE34	Splice_Site	SNP	ENST00000594947.1	37		CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	1.826	-0.471082	0.04445	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.06	-0.829	0.10796	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.99995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1179	0.03718	0.3876:0.3374:0.275:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF257	22062617	0.010000	0.17322	0.019000	0.16419	0.066000	0.16364	-1.107000	0.03316	0.426000	0.26116	0.248000	0.18094	.		0.299	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		Intron	6	61	0	0	0	1	0	6	61				
ITIH4	3700	broad.mit.edu	37	3	52859904	52859904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:52859904G>A	ENST00000266041.4	-	6	853	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q253*|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q165*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	253					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACCCACCTGAATGGAGCCC	0.552																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(757-759)Cag>Tag		inter-alpha-trypsin inhibitor heavy chain family, member 4							95.0	87.0	90.0					3																	52859904		2203	4300	6503	SO:0001587	stop_gained	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52859904G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.757C>T	3.37:g.52859904G>A	ENSP00000266041:p.Gln253*		Somatic				ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q165*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q253*	p.Q253*	NM_002218.4	NP_002209.2	WXS	Illumina GAIIx	Phase_I	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	6	853	-			253					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Nonsense_Mutation	SNP	ENST00000266041.4	37	c.757C>T	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.836513|4.836513	0.91117|0.91117	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	.|T	.|0.73329	.|0.3573	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73020	.|-0.4114	.|4	0.72032|.	D|.	0.01|.	-18.8643|-18.8643	17.0296|17.0296	0.86457|0.86457	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	253;253;253;253;241;165|110	.|.	ENSP00000266041:Q253X|.	Q|S	-|-	1|2	0|0	ITIH4|ITIH4	52834944|52834944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.594000|0.594000	0.36715|0.36715	7.103000|7.103000	0.77014|0.77014	2.315000|2.315000	0.78130|0.78130	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.552	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		11	22	0	0	0	1	0	11	22				
SIPA1L3	23094	broad.mit.edu	37	19	38597278	38597278	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:38597278C>A	ENST00000222345.6	+	7	2640	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	711	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGGCAGCAGGTCAGTGA	0.587																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2131-2133)Cag>Aag		signal-induced proliferation-associated 1 like 3							121.0	85.0	97.0					19																	38597278		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38597278C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2131C>A	19.37:g.38597278C>A	ENSP00000222345:p.Gln711Lys		Somatic					p.Q711K	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		7	2640	+			711			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2131C>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210245	0.95069	.	.	ENSG00000105738	ENST00000222345	D	0.94376	-3.41	5.15	5.15	0.70609	Rap/ran-GAP (2);	0.062608	0.64402	D	0.000003	D	0.97717	0.9251	M	0.88512	2.96	0.58432	D	0.999999	B	0.31519	0.327	D	0.63597	0.916	D	0.97377	0.9980	10	0.72032	D	0.01	-35.7728	17.552	0.87879	0.0:1.0:0.0:0.0	.	711	O60292	SI1L3_HUMAN	K	711	ENSP00000222345:Q711K	ENSP00000222345:Q711K	Q	+	1	0	SIPA1L3	43289118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.635000	0.83286	2.692000	0.91855	0.655000	0.94253	CAG		0.587	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		11	109	1	0	0.00829132	1	0.00847001	11	109				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T			Somatic				MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			WXS	Illumina GAIIx	Phase_I	Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	31	0	0	0	1	0	3	31				
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|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)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTTGTTTTAGTTAATACAC	0.438																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e7-1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						87.0	80.0	83.0					8																	42163859		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42163859A>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.478-1A>T	8.37:g.42163859A>T			Somatic				IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000379708.3_Intron		NM_001556.2	NP_001547.1	WXS	Illumina GAIIx	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		7	663	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37		CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595846	0.86953	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000519735;ENST00000520835	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2236	0.73333	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IKBKB	42283016	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	9.283000	0.95860	2.050000	0.60909	0.533000	0.62120	.		0.438	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Intron	9	97	0	0	0	1	0	9	97				
RSL1D1	26156	broad.mit.edu	37	16	11935588	11935588	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:11935588T>G	ENST00000571133.1	-	7	891	c.819A>C	c.(817-819)gaA>gaC	p.E273D	RSL1D1_ENST00000542106.1_Missense_Mutation_p.E53D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	273					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						TTTTGGTGGCTTCATCCCAAT	0.373																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(817-819)gaA>gaC		ribosomal L1 domain containing 1							70.0	71.0	71.0					16																	11935588		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11935588T>G	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.819A>C	16.37:g.11935588T>G	ENSP00000460871:p.Glu273Asp		Somatic				RSL1D1_ENST00000542106.1_Missense_Mutation_p.E53D	p.E273D	NM_015659.2	NP_056474.2	WXS	Illumina GAIIx	Phase_I	O76021	RL1D1_HUMAN			7	891	-			273					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.819A>C	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166329	0.38217	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.49432	0.78	4.29	0.381	0.16228	.	0.859738	0.10239	N	0.698667	T	0.34687	0.0906	L	0.54323	1.7	0.30311	N	0.788569	P;P	0.41929	0.765;0.528	B;B	0.37198	0.243;0.243	T	0.36915	-0.9728	10	0.36615	T	0.2	-13.521	2.3988	0.04396	0.3608:0.206:0.0:0.4332	.	273;273	Q32Q62;O76021	.;RL1D1_HUMAN	D	272;273;53	ENSP00000347897:E272D	ENSP00000347897:E272D	E	-	3	2	RSL1D1	11843089	0.056000	0.20664	0.014000	0.15608	0.086000	0.17979	-0.123000	0.10611	0.256000	0.21614	0.402000	0.26972	GAA		0.373	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		56	45	0	0	0	1	0	56	45				
CCDC18	343099	broad.mit.edu	37	1	93649533	93649533	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:93649533A>T	ENST00000343253.7	+	3	636		c.e3-1		CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_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			Somatic				CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	129	0	0	0	1	0	7	129				
MEPE	56955	broad.mit.edu	37	4	88767265	88767265	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:88767265T>A	ENST00000424957.3	+	4	1318	c.1245T>A	c.(1243-1245)aaT>aaA	p.N415K	MEPE_ENST00000497649.2_Missense_Mutation_p.N391K|MEPE_ENST00000361056.3_Missense_Mutation_p.N415K|MEPE_ENST00000395102.4_Missense_Mutation_p.N446K|MEPE_ENST00000540395.1_Missense_Mutation_p.N302K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.N302K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	415					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCATTCTAATAGGAACCAAG	0.388																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1171-1173)aaT>aaA		matrix extracellular phosphoglycoprotein							83.0	79.0	80.0					4																	88767265		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767265T>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1245T>A	4.37:g.88767265T>A	ENSP00000416984:p.Asn415Lys		Somatic				MEPE_ENST00000540395.1_Missense_Mutation_p.N302K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.N415K|MEPE_ENST00000560249.1_Missense_Mutation_p.N302K|MEPE_ENST00000424957.3_Missense_Mutation_p.N415K|MEPE_ENST00000395102.4_Missense_Mutation_p.N446K	p.N391K			WXS	Illumina GAIIx	Phase_I	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1551	+		Hepatocellular(203;0.114)	415					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1173T>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	3.745	-0.052750	0.07362	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.37584	4.37;1.19;1.19;1.2;4.37	5.21	-10.4	0.00318	.	1.550000	0.03662	N	0.242783	T	0.16428	0.0395	L	0.31476	0.935	0.09310	N	1	B	0.23490	0.086	B	0.15052	0.012	T	0.12760	-1.0535	10	0.07482	T	0.82	-0.0034	4.3829	0.11302	0.2128:0.4816:0.1119:0.1937	.	415	Q9NQ76	MEPE_HUMAN	K	415;446;391;302;415	ENSP00000416984:N415K;ENSP00000378534:N446K;ENSP00000422747:N391K;ENSP00000443491:N302K;ENSP00000354341:N415K	ENSP00000354341:N415K	N	+	3	2	MEPE	88986289	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.423000	0.01030	-1.888000	0.01113	-0.290000	0.09829	AAT		0.388	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			6	235	0	0	0	1	0	6	235				
DENND4C	55667	broad.mit.edu	37	9	19296004	19296004	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:19296004A>T	ENST00000380432.2	+	2	126		c.e2-1		DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000434457.2_Splice_Site			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C						cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTACTCTTTAGGTATATGGA	0.358																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e2-1		DENN/MADD domain containing 4C							92.0	91.0	91.0					9																	19296004		1813	4076	5889	SO:0001630	splice_region_variant	55667					integral to membrane		g.chr9:19296004A>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.94-1A>T	9.37:g.19296004A>T			Somatic				DENND4C_ENST00000434457.2_Splice_Site|DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000380432.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			2	126	+								A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Splice_Site	SNP	ENST00000380432.2	37			.	.	.	.	.	.	.	.	.	.	A	16.20	3.056765	0.55325	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3515	0.66705	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DENND4C	19286004	1.000000	0.71417	0.962000	0.40283	0.640000	0.38277	9.068000	0.93961	1.974000	0.57490	0.378000	0.23410	.		0.358	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	Intron	6	168	0	0	0	1	0	6	168				
CACNA1H	8912	broad.mit.edu	37	16	1248758	1248758	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:1248758G>T	ENST00000348261.5	+	6	1035	c.787G>T	c.(787-789)Gac>Tac	p.D263Y	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D263Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D263Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	263					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTGCTTCCTGGACAGTGCCTT	0.642																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(787-789)Gac>Tac		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						71.0	75.0	74.0					16																	1248758		2108	4221	6329	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1248758G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.787G>T	16.37:g.1248758G>T	ENSP00000334198:p.Asp263Tyr		Somatic				CACNA1H_ENST00000358590.4_Missense_Mutation_p.D263Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D263Y	p.D263Y	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			6	1035	+		Hepatocellular(780;0.00369)	263					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.787G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409690	0.62399	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98550	-4.99;-4.99	3.65	3.65	0.41850	Ion transport (1);	0.388104	0.26286	N	0.025256	D	0.98242	0.9418	L	0.51422	1.61	0.39737	D	0.971692	D;D	0.89917	1.0;1.0	D;D	0.87578	0.98;0.998	D	0.99087	1.0839	10	0.54805	T	0.06	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	263;263	O95180-2;O95180	.;CAC1H_HUMAN	Y	263	ENSP00000334198:D263Y;ENSP00000351401:D263Y	ENSP00000334198:D263Y	D	+	1	0	CACNA1H	1188759	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.195000	0.58400	2.044000	0.60594	0.543000	0.68304	GAC		0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	16	1	0	0.00909568	1	0.00925183	4	16				
LAMC1	3915	broad.mit.edu	37	1	183097727	183097727	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:183097727A>T	ENST00000258341.4	+	18	3380		c.e18-1		LAMC1_ENST00000466964.1_Splice_Site	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTTTATGTTTAGGTTGCTGAT	0.433																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.e18-1		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	69.0	69.0					1																	183097727		2203	4300	6503	SO:0001630	splice_region_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183097727A>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3124-1A>T	1.37:g.183097727A>T			Somatic				LAMC1_ENST00000466964.1_Splice_Site		NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			18	3380	+								Q5VYE7	Splice_Site	SNP	ENST00000258341.4	37		CCDS1351.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768733	0.69878	.	.	ENSG00000135862	ENST00000258341	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1443	0.81555	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMC1	181364350	1.000000	0.71417	0.955000	0.39395	0.917000	0.54804	8.294000	0.89934	2.222000	0.72286	0.533000	0.62120	.		0.433	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	Intron	5	134	0	0	0	1	0	5	134				
MYH7	4625	broad.mit.edu	37	14	23894145	23894145	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23894145G>A	ENST00000355349.3	-	22	2674	c.2512C>T	c.(2512-2514)Ccg>Tcg	p.P838S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	838					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGCAGCGGCTTGATCTTG	0.562																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2512-2514)Ccg>Tcg		myosin, heavy chain 7, cardiac muscle, beta							93.0	92.0	92.0					14																	23894145		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894145G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2512C>T	14.37:g.23894145G>A	ENSP00000347507:p.Pro838Ser		Somatic					p.P838S	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2674	-	all_cancers(95;2.54e-05)		838					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2512C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258285	0.80246	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.92965	-3.14	4.6	3.7	0.42460	.	.	.	.	.	D	0.97303	0.9118	H	0.97516	4.02	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97971	1.0343	9	0.87932	D	0	.	12.813	0.57649	0.0794:0.0:0.9205:0.0	.	838	P12883	MYH7_HUMAN	S	838	ENSP00000347507:P838S	ENSP00000347507:P838S	P	-	1	0	MYH7	22963985	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.083000	0.94067	1.288000	0.44600	0.563000	0.77884	CCG		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	118	0	0	0	1	0	3	118				
SNCAIP	9627	broad.mit.edu	37	5	121787127	121787127	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:121787127G>A	ENST00000261368.8	+	10	2847	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G464E|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G496E|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.G909E|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G420E|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G802E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G909E	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	862					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGCCTTTTGGAGCCTTTCGA	0.463																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2725-2727)gGa>gAa		synuclein, alpha interacting protein							89.0	96.0	94.0					5																	121787127		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121787127G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2585G>A	5.37:g.121787127G>A	ENSP00000261368:p.Gly862Glu		Somatic				CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G496E|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G862E|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G464E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G909E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G420E|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G802E	p.G909E			WXS	Illumina GAIIx	Phase_I	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	4154	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	862					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2726G>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385053	0.82792	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.52057	2.63;3.38;0.91;0.68;3.37;2.96;0.68;2.76	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999	T	0.69235	-0.5198	10	0.87932	D	0	-21.5163	20.3206	0.98668	0.0:0.0:1.0:0.0	.	802;490;464;802;496;496;909;862	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	E	420;802;862;909;802;496;909;464	ENSP00000441681:G420E;ENSP00000422106:G802E;ENSP00000261368:G862E;ENSP00000368848:G909E;ENSP00000368851:G802E;ENSP00000368854:G496E;ENSP00000261367:G909E;ENSP00000394392:G464E	ENSP00000261367:G909E	G	+	2	0	SNCAIP	121815026	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.061000	0.93913	2.813000	0.96785	0.561000	0.74099	GGA		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			5	186	0	0	0	1	0	5	186				
CHD2	1106	broad.mit.edu	37	15	93489267	93489267	+	Splice_Site	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:93489267G>A	ENST00000394196.4	+	12	2266		c.e12-1		CHD2_ENST00000557381.1_Splice_Site|CHD2_ENST00000536619.1_Splice_Site|CHD2_ENST00000420239.2_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATATGAAATAGCTCATAGTCG	0.363																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.e12-1		chromodomain helicase DNA binding protein 2							37.0	40.0	39.0					15																	93489267		2196	4295	6491	SO:0001630	splice_region_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489267G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1199-1G>A	15.37:g.93489267G>A			Somatic				CHD2_ENST00000557381.1_Splice_Site|CHD2_ENST00000536619.1_Splice_Site|CHD2_ENST00000420239.2_Splice_Site		NM_001271.3	NP_001262.3	WXS	Illumina GAIIx	Phase_I	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2266	+	Lung NSC(78;0.00976)|all_lung(78;0.016)							C6G482|Q96IP5	Splice_Site	SNP	ENST00000394196.4	37		CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816549	0.70912	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0965	0.93253	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD2	91290271	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	9.378000	0.97191	2.594000	0.87642	0.563000	0.77884	.		0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	Intron	3	83	0	0	0	1	0	3	83				
ADAMTS18	170692	broad.mit.edu	37	16	77327137	77327137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:77327137G>A	ENST00000282849.5	-	20	3443	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1009	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCACCCCTCGTCCACAGGTC	0.488																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3025-3027)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 18							72.0	73.0	73.0					16																	77327137		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327137G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3025C>T	16.37:g.77327137G>A	ENSP00000282849:p.Arg1009*		Somatic					p.R1009*	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			20	3443	-			1009			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.3025C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	41	9.073451	0.99057	.	.	ENSG00000140873	ENST00000282849	.	.	.	6.16	2.93	0.34026	.	0.140471	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.7213	0.62728	0.0:0.0:0.4043:0.5957	.	.	.	.	X	1009	.	ENSP00000282849:R1009X	R	-	1	2	ADAMTS18	75884638	1.000000	0.71417	0.952000	0.39060	0.003000	0.03518	2.244000	0.43124	0.885000	0.36088	0.650000	0.86243	CGA		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			133	130	0	0	0	1	0	133	130				
PTGFRN	5738	broad.mit.edu	37	1	117527410	117527410	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:117527410G>A	ENST00000393203.2	+	8	2423	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	759	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACCACCTCCCGGAGGGACTGG	0.587																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2275-2277)cGg>cAg		prostaglandin F2 receptor inhibitor							202.0	158.0	173.0					1																	117527410		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117527410G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2276G>A	1.37:g.117527410G>A	ENSP00000376899:p.Arg759Gln		Somatic					p.R759Q	NM_020440.2	NP_065173.2	WXS	Illumina GAIIx	Phase_I	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	8	2423	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	759			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2276G>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633463	0.29068	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.31247	1.5	5.59	-11.2	0.00127	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.503420	0.03355	N	0.196729	T	0.07683	0.0193	L	0.47716	1.5	0.09310	N	1	B	0.20988	0.05	B	0.10450	0.005	T	0.14337	-1.0476	10	0.13853	T	0.58	-0.0372	14.6344	0.68678	0.1155:0.267:0.6174:0.0	.	759	Q9P2B2	FPRP_HUMAN	Q	759;618	ENSP00000376899:R759Q	ENSP00000376899:R759Q	R	+	2	0	PTGFRN	117328933	0.074000	0.21230	0.000000	0.03702	0.941000	0.58515	0.016000	0.13377	-3.121000	0.00238	-0.258000	0.10820	CGG		0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		5	195	0	0	0	1	0	5	195				
KLHDC10	23008	broad.mit.edu	37	7	129761967	129761967	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:129761967A>T	ENST00000335420.5	+	5	838	c.704A>T	c.(703-705)cAc>cTc	p.H235L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	235						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ACAGACCTGCACAAGTTAGAT	0.433																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(703-705)cAc>cTc		kelch domain containing 10							148.0	115.0	126.0					7																	129761967		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129761967A>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.704A>T	7.37:g.129761967A>T	ENSP00000334140:p.His235Leu		Somatic					p.H235L	NM_014997.3	NP_055812.1	WXS	Illumina GAIIx	Phase_I	Q6PID8	KLD10_HUMAN			5	838	+			235					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.704A>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899236	0.91962	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.64085	-0.08;-0.08	5.47	5.47	0.80525	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.961;0.998	T	0.78219	-0.2289	10	0.51188	T	0.08	-15.1381	14.7329	0.69397	1.0:0.0:0.0:0.0	.	84;92;235	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	L	235;92	ENSP00000334140:H235L;ENSP00000420034:H92L	ENSP00000334140:H235L	H	+	2	0	KLHDC10	129549203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.064000	0.61679	0.533000	0.62120	CAC		0.433	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			30	179	0	0	0	1	0	30	179				
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.e5-2		transmembrane protein 209							53.0	52.0	52.0					7																	129841933		1898	4122	6020	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129841933T>A		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.332-2A>T	7.37:g.129841933T>A			Somatic				TMEM209_ENST00000336804.8_Splice_Site|TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA		NM_032842.3	NP_116231.2	WXS	Illumina GAIIx	Phase_I	Q96SK2	TM209_HUMAN			5	454	-	Melanoma(18;0.0435)							A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Splice_Site	SNP	ENST00000397622.2	37		CCDS47712.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311125	0.60414	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8362	0.63410	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM209	129629169	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	7.281000	0.78621	2.204000	0.70986	0.383000	0.25322	.		0.388	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Intron	4	135	0	0	0	1	0	4	135				
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e8-1		Ral GEF with PH domain and SH3 binding motif 2							37.0	39.0	38.0					1																	178802557		2200	4282	6482	SO:0001630	splice_region_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178802557A>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.481-1A>T	1.37:g.178802557A>T			Somatic				RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site		NM_152663.3	NP_689876.2	WXS	Illumina GAIIx	Phase_I	Q86X27	RGPS2_HUMAN			8	818	+								B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Splice_Site	SNP	ENST00000367635.3	37		CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120441	0.77323	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	.	.	.	5.98	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6582	0.51330	0.8547:0.0:0.0:0.1453	.	.	.	.	.	-1	.	.	.	+	.	.	RALGPS2	177069180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.829000	0.92055	1.061000	0.40601	0.528000	0.53228	.		0.259	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	Intron	4	51	0	0	0	1	0	4	51				
TRUB2	26995	broad.mit.edu	37	9	131072072	131072072	+	Silent	SNP	G	G	C	rs368076562		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131072072G>C	ENST00000372890.4	-	8	1086	c.753C>G	c.(751-753)gtC>gtG	p.V251V	TRUB2_ENST00000546104.1_Silent_p.V195V|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	251					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CTTGGGTGCAGACAGCAGTGG	0.577																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(751-753)gtC>gtG		TruB pseudouridine (psi) synthase family member 2							119.0	100.0	106.0					9																	131072072		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131072072G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.753C>G	9.37:g.131072072G>C			Somatic				TRUB2_ENST00000546104.1_Silent_p.V195V|TRUB2_ENST00000460320.1_5'UTR	p.V251V	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1086	-			251					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.753C>G	CCDS6897.1																																																																																				0.577	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		20	86	0	0	0	1	0	20	86				
CABS1	85438	broad.mit.edu	37	4	71200945	71200945	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:71200945T>A	ENST00000273936.5	+	1	263	c.189T>A	c.(187-189)acT>acA	p.T63T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	63					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCAACAACTACAGACAACA	0.353																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(187-189)acT>acA		calcium-binding protein, spermatid-specific 1							86.0	90.0	89.0					4																	71200945		2202	4298	6500	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71200945T>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.189T>A	4.37:g.71200945T>A			Somatic					p.T63T	NM_033122.3	NP_149113.3	WXS	Illumina GAIIx	Phase_I	Q96KC9	CABS1_HUMAN			1	248	+			63					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.189T>A	CCDS3539.1																																																																																				0.353	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		9	292	0	0	0	1	0	9	292				
ABCA8	10351	broad.mit.edu	37	17	66873803	66873803	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:66873803G>A	ENST00000269080.2	-	31	4073	c.3936C>T	c.(3934-3936)agC>agT	p.S1312S	ABCA8_ENST00000430352.2_Silent_p.S1352S|ABCA8_ENST00000586539.1_Silent_p.S1352S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1312	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCCCTCCACCGCTCCCTTTCA	0.567																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3934-3936)agC>agT		ATP-binding cassette, sub-family A (ABC1), member 8							89.0	80.0	83.0					17																	66873803		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873803G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3936C>T	17.37:g.66873803G>A			Somatic				ABCA8_ENST00000430352.2_Silent_p.S1352S|ABCA8_ENST00000586539.1_Silent_p.S1352S	p.S1312S	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			31	4073	-	Breast(10;4.56e-13)		1312			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.3936C>T	CCDS11680.1																																																																																				0.567	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		5	106	0	0	0	1	0	5	106				
CHL1	10752	broad.mit.edu	37	3	443307	443307	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:443307A>T	ENST00000256509.2	+	27	4027		c.e27-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCTCTTTTTTAGTTAAAGAAA	0.328																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e27-1		cell adhesion molecule L1-like							52.0	56.0	54.0					3																	443307		2203	4298	6501	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:443307A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3386-1A>T	3.37:g.443307A>T			Somatic				CHL1_ENST00000397491.2_Splice_Site		NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	WXS	Illumina GAIIx	Phase_I	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	27	4027	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37		CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307849	0.40795	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000445697	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0817	0.72119	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	418307	1.000000	0.71417	0.885000	0.34714	0.299000	0.27559	8.233000	0.89799	1.960000	0.56953	0.482000	0.46254	.		0.328	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron	4	60	0	0	0	1	0	4	60				
DMRTC2	63946	broad.mit.edu	37	19	42354556	42354556	+	Intron	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:42354556G>A	ENST00000269945.3	+	8	867				DMRTC2_ENST00000596827.1_Missense_Mutation_p.R311Q	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGGCAGAAGCGGGGGTTCCCA	0.612																																						ENST00000596827.1																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(931-933)cGg>cAg		DMRT-like family C2							51.0	58.0	55.0					19																	42354556		2203	4300	6503	SO:0001627	intron_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42354556G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.817-38G>A	19.37:g.42354556G>A			Somatic				DMRTC2_ENST00000269945.3_Intron	p.R311Q			WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			7	1018	+			275			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.932G>A	CCDS33034.1																																																																																				0.612	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		33	82	0	0	0	1	0	33	82				
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Splice_Site|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	gcagattaactaaccacagat	0.313																																						ENST00000414819.1																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e5-2		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						106.0	94.0	98.0					1																	71418744		2203	4300	6503	SO:0001630	splice_region_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418744T>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.1171-2A>T	1.37:g.71418744T>A			Somatic				PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000370931.3_Intron		NM_001126044.1	NP_001119516.1	WXS	Illumina GAIIx	Phase_I	P43115	PE2R3_HUMAN			5	1427	-								B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000414819.1	37		CCDS656.1																																																																																				0.313	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957	Intron	7	112	0	0	0	1	0	7	112				
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:158988314C>A	ENST00000295809.7	+	5	1100	c.845C>A	c.(844-846)gCt>gAt	p.A282D	IFI16_ENST00000340979.6_Missense_Mutation_p.A282D|IFI16_ENST00000448393.2_Missense_Mutation_p.A282D|IFI16_ENST00000368132.3_Missense_Mutation_p.A282D|IFI16_ENST00000359709.3_Missense_Mutation_p.A226D|IFI16_ENST00000368131.4_Missense_Mutation_p.A282D|IFI16_ENST00000430894.2_Missense_Mutation_p.A230D			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|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)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(844-846)gCt>gAt		interferon, gamma-inducible protein 16							65.0	66.0	66.0					1																	158988314		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988314C>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.845C>A	1.37:g.158988314C>A	ENSP00000295809:p.Ala282Asp		Somatic				IFI16_ENST00000430894.2_Missense_Mutation_p.A230D|IFI16_ENST00000340979.6_Missense_Mutation_p.A282D|IFI16_ENST00000359709.3_Missense_Mutation_p.A226D|IFI16_ENST00000368132.3_Missense_Mutation_p.A282D|IFI16_ENST00000368131.4_Missense_Mutation_p.A282D|IFI16_ENST00000448393.2_Missense_Mutation_p.A282D	p.A282D			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			5	1100	+	all_hematologic(112;0.0429)		282			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.845C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.410197|2.410197	0.42715|0.42715	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36;1.36|.	2.9|2.9	-0.208|-0.208	0.13185|0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.26304|0.26304	0.0642|0.0642	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;P;D|.	0.69307|.	0.963;0.904;0.963|.	T|T	0.31251|0.31251	-0.9950|-0.9950	8|5	.|.	.|.	.|.	.|.	5.1772|5.1772	0.15141|0.15141	0.0:0.5616:0.0:0.4384|0.0:0.5616:0.0:0.4384	.|.	230;282;282|.	E7EPR3;Q16666-2;Q16666|.	.;.;IF16_HUMAN|.	D|M	282;282;282;282;230|103	ENSP00000295809:A282D;ENSP00000342741:A282D;ENSP00000357113:A282D;ENSP00000357114:A282D;ENSP00000394935:A230D|.	.|.	A|L	+|+	2|1	0|2	IFI16|IFI16	157254938|157254938	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.049000|0.049000	0.14656|0.14656	-1.061000|-1.061000	0.03472|0.03472	0.086000|0.086000	0.17137|0.17137	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		5	151	1	0	0.184627	1	0.184627	5	151				
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:91667731A>T	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_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			Somatic				AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	4	74	0	0	0	1	0	4	74				
FBXW7	55294	broad.mit.edu	37	4	153332470	153332470	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:153332470A>T	ENST00000281708.4	-	2	1715	c.486T>A	c.(484-486)taT>taA	p.Y162*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Y162*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Y162*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Y162*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	162					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGTTTTTGTATAGAATGGGG	0.348			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(484-486)taT>taA		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							116.0	101.0	106.0					4																	153332470		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332470A>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.486T>A	4.37:g.153332470A>T	ENSP00000281708:p.Tyr162*		Somatic				FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Y162*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Y162*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Y162*	p.Y162*	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			2	1715	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	162					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.486T>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	36	5.705441	0.96812	.	.	ENSG00000109670	ENST00000281708	.	.	.	5.54	4.37	0.52481	.	0.293440	0.27831	N	0.017666	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0055	6.1072	0.20079	0.697:0.0:0.303:0.0	.	.	.	.	X	162	.	ENSP00000281708:Y162X	Y	-	3	2	FBXW7	153551920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.212000	0.42835	0.955000	0.37878	0.528000	0.53228	TAT		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	193	0	0	0	1	0	5	193				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic				NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	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	4	72	0	0	0	1	0	4	72				
PTPDC1	138639	broad.mit.edu	37	9	96857602	96857602	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:96857602A>T	ENST00000375360.3	+	6	798	c.458A>T	c.(457-459)tAc>tTc	p.Y153F	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	153					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCCTAGTTTACTTCTACAAT	0.353																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(457-459)tAc>tTc		protein tyrosine phosphatase domain containing 1							131.0	134.0	133.0					9																	96857602		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96857602A>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.458A>T	9.37:g.96857602A>T	ENSP00000364509:p.Tyr153Phe		Somatic				PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	p.Y153F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	A2A3K4	PTPC1_HUMAN			6	798	+			153					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.458A>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317711	0.60524	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.21361	2.01;2.01	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.16743	0.435	0.54753	D	0.999982	P;P;P;P	0.41498	0.752;0.708;0.642;0.747	P;P;P;P	0.56563	0.615;0.48;0.672;0.801	T	0.08269	-1.0730	10	0.19590	T	0.45	-21.9296	15.0326	0.71720	1.0:0.0:0.0:0.0	.	207;205;207;153	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	F	153;205	ENSP00000364509:Y153F;ENSP00000288976:Y205F	ENSP00000288976:Y205F	Y	+	2	0	PTPDC1	95897423	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	6.875000	0.75551	2.284000	0.76573	0.528000	0.53228	TAC		0.353	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		6	229	0	0	0	1	0	6	229				
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:100286421A>T	ENST00000259365.4	+	2	165		c.e2-1		TMOD1_ENST00000395211.2_Splice_Site	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.e2-1		tropomodulin 1							64.0	60.0	62.0					9																	100286421		2203	4300	6503	SO:0001630	splice_region_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100286421A>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.-48-1A>T	9.37:g.100286421A>T			Somatic				TMOD1_ENST00000259365.3_Splice_Site		NM_001166116.1	NP_001159588.1	WXS	Illumina GAIIx	Phase_I	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	2	88	+		Acute lymphoblastic leukemia(62;0.154)						B2RB77|Q5T7W3|Q9BUF1	Splice_Site	SNP	ENST00000259365.4	37		CCDS6726.1																																																																																				0.453	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	Intron	6	253	0	0	0	1	0	6	253				
EHBP1L1	254102	broad.mit.edu	37	11	65350682	65350682	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:65350682G>A	ENST00000309295.4	+	9	2804	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	847	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACAGAGGTCGGGGGTTCAGG	0.552																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2539-2541)Ggg>Agg		EH domain binding protein 1-like 1							27.0	29.0	28.0					11																	65350682		1844	4087	5931	SO:0001583	missense	254102							g.chr11:65350682G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2539G>A	11.37:g.65350682G>A	ENSP00000312671:p.Gly847Arg		Somatic					p.G847R	NM_001099409.1	NP_001092879.1	WXS	Illumina GAIIx	Phase_I	Q8N3D4	EH1L1_HUMAN			9	2804	+			847			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.2539G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561157	0.45590	.	.	ENSG00000173442	ENST00000309295	T	0.73469	-0.75	4.67	1.48	0.22813	.	1.354100	0.05403	N	0.541105	T	0.57154	0.2034	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44817	-0.9303	10	0.44086	T	0.13	.	3.6876	0.08334	0.0902:0.3043:0.4495:0.156	.	847	Q8N3D4	EH1L1_HUMAN	R	847	ENSP00000312671:G847R	ENSP00000312671:G847R	G	+	1	0	EHBP1L1	65107258	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.318000	0.02705	0.379000	0.24794	-0.191000	0.12829	GGG		0.552	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		12	20	0	0	0	1	0	12	20				
HUWE1	10075	broad.mit.edu	37	X	53560374	53560374	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:53560374T>A	ENST00000342160.3	-	83	13480		c.e83-2		HUWE1_ENST00000262854.6_Splice_Site			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATTAAAACTAAGGAAAGAA	0.512																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.e83-2		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							48.0	44.0	45.0					X																	53560374		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560374T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13023-2A>T	X.37:g.53560374T>A			Somatic				HUWE1_ENST00000262854.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			83	13480	-								O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37		CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024429	0.54683	.	.	ENSG00000086758	ENST00000342160;ENST00000427052;ENST00000426907;ENST00000262854	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4066	0.60917	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HUWE1	53577099	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	5.600000	0.67599	1.877000	0.54381	0.417000	0.27973	.		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Intron	3	38	0	0	0	1	0	3	38				
BTBD10	84280	broad.mit.edu	37	11	13424827	13424827	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294																																						ENST00000278174.5																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.e8-2		BTB (POZ) domain containing 10							34.0	38.0	37.0					11																	13424827		2128	4227	6355	SO:0001630	splice_region_variant	84280					nucleus		g.chr11:13424827T>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1007-2A>T	11.37:g.13424827T>A			Somatic				BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site		NM_032320.5	NP_115696.2	WXS	Illumina GAIIx	Phase_I	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	8	1252	-								B7Z228|Q86WG1	Splice_Site	SNP	ENST00000278174.5	37		CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508717	0.64410	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTBD10	13381403	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	7.951000	0.87819	2.123000	0.65237	0.528000	0.53228	.		0.294	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	Intron	6	175	0	0	0	1	0	6	175				
TNFSF10	8743	broad.mit.edu	37	3	172227005	172227005	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:172227005A>T	ENST00000241261.2	-	4	541		c.e4+1		TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGTTTCTCTTACTTGGAGAAG	0.358																																						ENST00000241261.2																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.e4+1		tumor necrosis factor (ligand) superfamily, member 10							92.0	88.0	89.0					3																	172227005		2203	4300	6503	SO:0001630	splice_region_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172227005A>T	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.418+1T>A	3.37:g.172227005A>T			Somatic				TNFSF10_ENST00000420541.2_Intron		NM_003810.3	NP_003801.1	WXS	Illumina GAIIx	Phase_I	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		4	541	-	Ovarian(172;0.00197)|Breast(254;0.158)							A1Y9B3	Splice_Site	SNP	ENST00000241261.2	37		CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063284	0.20067	.	.	ENSG00000121858	ENST00000241261	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.136	0.48375	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFSF10	173709699	1.000000	0.71417	0.970000	0.41538	0.023000	0.10783	4.413000	0.59795	2.053000	0.61076	0.455000	0.32223	.		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		Intron	6	135	0	0	0	1	0	6	135				
ZNF100	163227	broad.mit.edu	37	19	21910514	21910514	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:21910514A>T	ENST00000358296.6	-	5	798	c.600T>A	c.(598-600)acT>acA	p.T200T	ZNF100_ENST00000305570.6_Silent_p.T136T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	200					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTTCTTTCTAGTATGTCTTA	0.299																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(598-600)acT>acA		zinc finger protein 100							70.0	73.0	72.0					19																	21910514		2055	4224	6279	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910514A>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.600T>A	19.37:g.21910514A>T			Somatic				ZNF100_ENST00000305570.6_Silent_p.T136T	p.T200T	NM_173531.3	NP_775802.2	WXS	Illumina GAIIx	Phase_I	Q8IYN0	ZN100_HUMAN			5	798	-			200					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.600T>A	CCDS42538.1																																																																																				0.299	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		5	110	0	0	0	1	0	5	110				
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:89133249T>A	ENST00000263317.4	-	11	1250		c.e11-2		NOX4_ENST00000525196.1_Intron|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e11-2		NADPH oxidase 4							77.0	79.0	79.0					11																	89133249		2201	4296	6497	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133249T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1012-2A>T	11.37:g.89133249T>A			Somatic				NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	WXS	Illumina GAIIx	Phase_I	Q9NPH5	NOX4_HUMAN			11	1250	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37		CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949672	0.73787	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88772897	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.989000	0.76219	1.914000	0.55421	0.459000	0.35465	.		0.289	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	5	127	0	0	0	1	0	5	127				
F10	2159	broad.mit.edu	37	13	113801797	113801797	+	Silent	SNP	C	C	T	rs5959		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:113801797C>T	ENST00000375559.3	+	7	890	c.852C>T	c.(850-852)ttC>ttT	p.F284F	F10_ENST00000375551.3_Silent_p.F284F|F10_ENST00000409306.1_Silent_p.F284F	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCAAGAGATTCAAGGTGAGGG	0.512																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(850-852)ttC>ttT		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						81.0	66.0	71.0					13																	113801797		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113801797C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.852C>T	13.37:g.113801797C>T			Somatic				F10_ENST00000375551.3_Silent_p.F284F|F10_ENST00000409306.1_Silent_p.F284F	p.F284F	NM_000504.3	NP_000495.1	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	890	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	284			Peptidase S1.		Q14340	Silent	SNP	ENST00000375559.3	37	c.852C>T	CCDS9530.1																																																																																				0.512	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			10	29	0	0	0	1	0	10	29				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000409069.1_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			Somatic				OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site		NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	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	9	224	0	0	0	1	0	9	224				
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic				ZNF462_ENST00000457913.1_Silent_p.I707I	p.I707I			WXS	Illumina GAIIx	Phase_I	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		9	496	0	0	0	1	0	9	496				
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000464074.2_Intron|RSU1_ENST00000602389.1_Splice_Site			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358																																						ENST00000377921.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14						c.e2-2		Ras suppressor protein 1							110.0	113.0	112.0					10																	16824085		2203	4300	6503	SO:0001630	splice_region_variant	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16824085T>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.110-2A>T	10.37:g.16824085T>A			Somatic				RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000464074.2_Intron				WXS	Illumina GAIIx	Phase_I	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	2	411	-								A8KA46|D3DRU3|Q6FI17	Splice_Site	SNP	ENST00000377921.3	37		CCDS7112.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358992	0.82353	.	.	ENSG00000148484	ENST00000345264;ENST00000377921	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6646	0.56835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RSU1	16864091	1.000000	0.71417	0.723000	0.30687	0.746000	0.42486	5.749000	0.68704	2.083000	0.62718	0.533000	0.62120	.		0.358	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724	Intron	8	226	0	0	0	1	0	8	226				
IMPG2	50939	broad.mit.edu	37	3	100961671	100961671	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:100961671C>T	ENST00000193391.7	-	14	3070	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	961	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTCGACTGTTCACCACAATGC	0.433																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2881-2883)gtG>gtA		interphotoreceptor matrix proteoglycan 2							148.0	131.0	137.0					3																	100961671		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961671C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2883G>A	3.37:g.100961671C>T			Somatic					p.V961V	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			14	3070	-			961			SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.2883G>A	CCDS2940.1																																																																																				0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			23	484	0	0	0	1	0	23	484				
SMG1	23049	broad.mit.edu	37	16	18875093	18875093	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:18875093C>T	ENST00000446231.2	-	25	3986	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	SMG1_ENST00000389467.3_Missense_Mutation_p.E1192K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1192	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATGTAGCACTCACATGCTTTA	0.413																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(3574-3576)Gag>Aag		SMG1 phosphatidylinositol 3-kinase-related kinase							58.0	60.0	59.0					16																	18875093		910	2030	2940	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18875093C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3574G>A	16.37:g.18875093C>T	ENSP00000402515:p.Glu1192Lys		Somatic				SMG1_ENST00000389467.3_Missense_Mutation_p.E1192K	p.E1192K			WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			25	3986	-			1192			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.3574G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108764	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.67345	-0.26;-0.26	4.63	4.63	0.57726	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.51477	U	0.000097	T	0.53142	0.1778	L	0.34521	1.04	0.42799	D	0.993925	P	0.34977	0.478	B	0.28553	0.091	T	0.53158	-0.8478	10	0.17369	T	0.5	.	17.9316	0.88999	0.0:1.0:0.0:0.0	.	1192	Q96Q15	SMG1_HUMAN	K	1192	ENSP00000402515:E1192K;ENSP00000374118:E1192K	ENSP00000374118:E1192K	E	-	1	0	SMG1	18782594	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.148000	0.71788	2.303000	0.77524	0.549000	0.68633	GAG		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	98	0	0	0	1	0	5	98				
KAT2A	2648	broad.mit.edu	37	17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1972-1974)cGc>cAc		K(lysine) acetyltransferase 2A							309.0	269.0	282.0					17																	40266956		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40266956C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1973G>A	17.37:g.40266956C>T	ENSP00000225916:p.Arg658His		Somatic					p.R658H	NM_021078.2	NP_066564.2	WXS	Illumina GAIIx	Phase_I	Q92830	KAT2A_HUMAN			13	2026	-			658					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1973G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183065	0.78677	.	.	ENSG00000108773	ENST00000225916	T	0.05513	3.43	5.09	5.09	0.68999	Acyl-CoA N-acyltransferase (2);	0.142348	0.52532	D	0.000063	T	0.15652	0.0377	M	0.87097	2.86	0.80722	D	1	B	0.18013	0.025	B	0.08055	0.003	T	0.03268	-1.1054	10	0.62326	D	0.03	-19.725	18.4939	0.90856	0.0:1.0:0.0:0.0	.	658	Q92830	KAT2A_HUMAN	H	658	ENSP00000225916:R658H	ENSP00000225916:R658H	R	-	2	0	KAT2A	37520482	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.797000	0.85911	2.366000	0.80165	0.561000	0.74099	CGC		0.552	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		5	177	0	0	0	1	0	5	177				
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A	rs202018152		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(289-291)agT>agA		U2 snRNP-associated SURP domain containing							51.0	48.0	49.0					3																	142733221		1814	4070	5884	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142733221T>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.291T>A	3.37:g.142733221T>A	ENSP00000418563:p.Ser97Arg		Somatic				U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R	p.S97R	NM_001080415.1	NP_001073884.1	WXS	Illumina GAIIx	Phase_I	O15042	SR140_HUMAN			4	381	+			97					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.291T>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967085	0.74131	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11385	2.78;2.78	5.5	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.99	D;D;P	0.68621	0.959;0.925;0.843	T	0.05869	-1.0859	10	0.23302	T	0.38	-18.1071	6.3851	0.21556	0.0:0.5358:0.0:0.4642	.	97;97;97	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	R	97;97;97;97;67	ENSP00000418563:S97R;ENSP00000422011:S97R	ENSP00000322376:S97R	S	+	3	2	U2SURP	144215911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.477000	0.35431	0.488000	0.27723	-0.371000	0.07208	AGT		0.299	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		5	93	0	0	0	1	0	5	93				
TRUB2	26995	broad.mit.edu	37	9	131071960	131071960	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131071960G>C	ENST00000372890.4	-	8	1198	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(865-867)Cag>Gag		TruB pseudouridine (psi) synthase family member 2							53.0	51.0	51.0					9																	131071960		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071960G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.865C>G	9.37:g.131071960G>C	ENSP00000361982:p.Gln289Glu		Somatic				TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E	p.Q289E	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1198	-			289					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.865C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530800	0.27387	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.16196	2.36;2.36	5.68	3.85	0.44370	Pseudouridine synthase, catalytic domain (1);	0.296736	0.29594	N	0.011707	T	0.08268	0.0206	N	0.14661	0.345	0.21184	N	0.999766	B	0.12013	0.005	B	0.11329	0.006	T	0.38436	-0.9661	10	0.02654	T	1	-20.5685	10.6271	0.45514	0.0:0.1119:0.5714:0.3167	.	289	O95900	TRUB2_HUMAN	E	289;233	ENSP00000361982:Q289E;ENSP00000438084:Q233E	ENSP00000361982:Q289E	Q	-	1	0	TRUB2	130111781	1.000000	0.71417	0.986000	0.45419	0.386000	0.30323	3.358000	0.52284	0.753000	0.32945	0.561000	0.74099	CAG		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		24	62	0	0	0	1	0	24	62				
LIAS	11019	broad.mit.edu	37	4	39469185	39469185	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:39469185A>C	ENST00000513731.1	+	3	318	c.266A>C	c.(265-267)gAt>gCt	p.D89A	LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Missense_Mutation_p.D219A|LIAS_ENST00000261434.3_Missense_Mutation_p.D219A					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TTTCGAGGTGATCTCAAAGCA	0.388																																						ENST00000261434.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(655-657)gAt>gCt		lipoic acid synthetase	Lipoic Acid(DB00166)						143.0	139.0	140.0					4																	39469185		2203	4300	6503	SO:0001583	missense	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39469185A>C	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.266A>C	4.37:g.39469185A>C	ENSP00000425580:p.Asp89Ala		Somatic				LIAS_ENST00000513731.1_Missense_Mutation_p.D89A|LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Missense_Mutation_p.D219A	p.D219A	NM_006859.2	NP_006850.2	WXS	Illumina GAIIx	Phase_I	O43766	LIAS_HUMAN			7	774	+			219						Missense_Mutation	SNP	ENST00000513731.1	37	c.656A>C		.	.	.	.	.	.	.	.	.	.	A	18.98	3.738163	0.69304	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731	D;D;D	0.82433	-1.61;-1.61;-1.61	5.89	5.89	0.94794	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.042859	0.85682	D	0.000000	D	0.88883	0.6558	M	0.83312	2.635	0.80722	D	1	P;P	0.47762	0.9;0.664	P;P	0.51615	0.675;0.595	D	0.90014	0.4123	10	0.59425	D	0.04	-20.0957	15.4894	0.75593	1.0:0.0:0.0:0.0	.	89;219	D6RCP8;O43766	.;LIAS_HUMAN	A	219;219;89	ENSP00000340676:D219A;ENSP00000261434:D219A;ENSP00000425580:D89A	ENSP00000261434:D219A	D	+	2	0	LIAS	39145580	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	8.821000	0.92009	2.250000	0.74265	0.455000	0.32223	GAT		0.388	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451		62	138	0	0	0	1	0	62	138				
FAM175A	84142	broad.mit.edu	37	4	84384645	84384645	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:84384645A>T	ENST00000321945.7	-	8	905		c.e8+1		FAM175A_ENST00000506553.1_Splice_Site|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A						chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTGTTTACTTACTTGCTGCCT	0.368																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.e8+1		family with sequence similarity 175, member A							157.0	138.0	145.0					4																	84384645		2203	4300	6503	SO:0001630	splice_region_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84384645A>T	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.796+1T>A	4.37:g.84384645A>T			Somatic				FAM175A_ENST00000506553.1_Splice_Site|MRPS18C_ENST00000509571.1_Intron		NM_139076.2	NP_620775.2	WXS	Illumina GAIIx	Phase_I	Q6UWZ7	F175A_HUMAN			8	905	-								A5JJ07|Q9H8I1|Q9H9N4	Splice_Site	SNP	ENST00000321945.7	37		CCDS3605.2	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407237	0.25378	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	.	.	.	5.99	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5203	0.50546	0.9303:0.0:0.0697:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM175A	84603669	1.000000	0.71417	0.884000	0.34674	0.121000	0.20230	3.536000	0.53582	1.089000	0.41292	0.529000	0.55759	.		0.368	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	Intron	4	123	0	0	0	1	0	4	123				
OFCC1	266553	broad.mit.edu	37	6	9933181	9933181	+	Splice_Site	SNP	T	T	A	rs368837849		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:9933181T>A	ENST00000472329.1	-	4	244		c.e4-2		OFCC1_ENST00000316020.6_Splice_Site			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CTTCTTTAACTAGAGCAAAAC	0.388																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.e4-2		orofacial cleft 1 candidate 1							178.0	176.0	177.0					6																	9933181		2203	4300	6503	SO:0001630	splice_region_variant	266553							g.chr6:9933181T>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000472329.1:c.791-2A>T	6.37:g.9933181T>A			Somatic				OFCC1_ENST00000472329.1_Splice_Site				WXS	Illumina GAIIx	Phase_I					4	283	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Splice_Site	SNP	ENST00000472329.1	37			.	.	.	.	.	.	.	.	.	.	T	12.66	2.005147	0.35415	.	.	ENSG00000181355	ENST00000460363;ENST00000492169;ENST00000316020;ENST00000491508	.	.	.	5.84	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.594	0.50962	0.0:0.069:0.0:0.931	.	.	.	.	.	-1	.	.	.	-	.	.	OFCC1	10041167	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.876000	0.48498	1.047000	0.40274	0.533000	0.62120	.		0.388	OFCC1-003	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000353310.2	NM_153003	Intron	6	261	0	0	0	1	0	6	261				
ABCA12	26154	broad.mit.edu	37	2	215807719	215807719	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:215807719A>G	ENST00000272895.7	-	50	7585	c.7366T>C	c.(7366-7368)Tgt>Cgt	p.C2456R	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C2138R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2456	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		AACCTGGTACAGAGAGCTTCA	0.378																																					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.(7366-7368)Tgt>Cgt		ATP-binding cassette, sub-family A (ABC1), member 12							124.0	106.0	112.0					2																	215807719		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215807719A>G	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.7366T>C	2.37:g.215807719A>G	ENSP00000272895:p.Cys2456Arg		Somatic				AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C2138R	p.C2456R	NM_173076.2	NP_775099.2	WXS	Illumina GAIIx	Phase_I	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)	50	7585	-		Renal(323;0.127)	2456			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.7366T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424035	0.83667	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.99751	-6.63;-6.63	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.96362	0.9267	10	0.87932	D	0	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	2456;2138	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	2456;2138	ENSP00000272895:C2456R;ENSP00000374312:C2138R	ENSP00000272895:C2456R	C	-	1	0	ABCA12	215515964	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.971000	0.93419	2.276000	0.75962	0.528000	0.53228	TGT		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	159	0	0	0	1	0	5	159				
EXO1	9156	broad.mit.edu	37	1	242042151	242042151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:242042151G>T	ENST00000366548.3	+	13	2208	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.E539*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.E539*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	539					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAATCTGCATGAATCAGAGTA	0.408								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1615-1617)Gaa>Taa	Editing and processing nucleases	exonuclease 1							100.0	90.0	93.0					1																	242042151		2203	4300	6503	SO:0001587	stop_gained	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042151G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1615G>T	1.37:g.242042151G>T	ENSP00000355506:p.Glu539*		Somatic				EXO1_ENST00000348581.5_Nonsense_Mutation_p.E539*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.E539*	p.E539*	NM_130398.3	NP_569082.2	WXS	Illumina GAIIx	Phase_I	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2208	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	539					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	c.1615G>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	40	8.173380	0.98688	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	5.2	3.27	0.37495	.	0.367199	0.27231	N	0.020315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	0.1306	7.2515	0.26152	0.0869:0.3348:0.5783:0.0	.	.	.	.	X	539	.	ENSP00000311873:E539X	E	+	1	0	EXO1	240108774	0.264000	0.24093	0.002000	0.10522	0.151000	0.21798	2.117000	0.41939	0.730000	0.32425	0.650000	0.86243	GAA		0.408	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		5	157	1	0	1.23904e-05	1	1.31683e-05	5	157				
PHLDB2	90102	broad.mit.edu	37	3	111632259	111632259	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:111632259C>A	ENST00000431670.2	+	3	1840	c.1429C>A	c.(1429-1431)Cag>Aag	p.Q477K	PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	477						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAAGATGTGCAGAAAATCAA	0.522																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1429-1431)Cag>Aag		pleckstrin homology-like domain, family B, member 2							113.0	110.0	111.0					3																	111632259		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632259C>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1429C>A	3.37:g.111632259C>A	ENSP00000405405:p.Gln477Lys		Somatic				PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477K	p.Q477K	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			3	1840	+			477					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1429C>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846218	0.91277	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.36699	1.24;1.3;1.26;1.27;1.3;1.26;1.61	5.78	5.78	0.91487	.	0.261774	0.40385	N	0.001115	T	0.57681	0.2070	M	0.63843	1.955	0.54753	D	0.999985	D;B;D;P;B	0.71674	0.969;0.094;0.998;0.51;0.264	D;B;D;B;B	0.78314	0.93;0.039;0.991;0.197;0.164	T	0.51474	-0.8701	10	0.37606	T	0.19	.	16.9203	0.86162	0.0:1.0:0.0:0.0	.	63;477;477;477;504	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	K	504;504;477;477;477;477;477;477;63	ENSP00000377500:Q504K;ENSP00000405405:Q477K;ENSP00000405292:Q477K;ENSP00000418296:Q477K;ENSP00000377502:Q477K;ENSP00000418319:Q477K;ENSP00000420303:Q63K	ENSP00000352764:Q504K	Q	+	1	0	PHLDB2	113114949	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.062000	0.64326	2.734000	0.93682	0.655000	0.94253	CAG		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		35	582	1	0	1.36239e-07	1	1.46767e-07	35	582				
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(88-90)ctA>ctT		olfactory receptor, family 13, subfamily C, member 8							232.0	225.0	227.0					9																	107331538		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331538A>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.90A>T	9.37:g.107331538A>T			Somatic					p.L30L	NM_001004483.1	NP_001004483.1	WXS	Illumina GAIIx	Phase_I	Q8NGS7	O13C8_HUMAN			1	90	+			30					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.90A>T	CCDS35090.1																																																																																				0.433	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			10	533	0	0	0	1	0	10	533				
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:39757017T>A	ENST00000361418.5	-	7	919		c.e7-2		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000395670.3_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e7-2		kinesin family member 21A							95.0	93.0	94.0					12																	39757017		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39757017T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.904-2A>T	12.37:g.39757017T>A			Somatic				KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z4S6	KI21A_HUMAN			7	1323	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306185	0.60305	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7019	0.69162	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38043284	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	3.341000	0.52151	1.880000	0.54463	0.460000	0.39030	.		0.333	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	8	168	0	0	0	1	0	8	168				
DUSP27	92235	broad.mit.edu	37	1	167097406	167097406	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:167097406G>T	ENST00000361200.2	+	6	3204	c.3038G>T	c.(3037-3039)aGg>aTg	p.R1013M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1013M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1013M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1013	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCTCCACCAGGGAGGGCAGA	0.552																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3037-3039)aGg>aTg		dual specificity phosphatase 27 (putative)							63.0	61.0	62.0					1																	167097406		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097406G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3038G>T	1.37:g.167097406G>T	ENSP00000354483:p.Arg1013Met		Somatic				DUSP27_ENST00000271385.5_Missense_Mutation_p.R1013M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1013M	p.R1013M			WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			6	3204	+			1013			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3038G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303109	0.40795	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03635	3.86;3.86;3.86	5.42	2.52	0.30459	.	0.483859	0.18924	N	0.127415	T	0.02342	0.0072	L	0.57536	1.79	0.23249	N	0.99805	P	0.52842	0.956	P	0.46975	0.533	T	0.38824	-0.9643	10	0.87932	D	0	-17.9785	7.3742	0.26818	0.4979:0.0:0.502:0.0	.	1013	Q5VZP5	DUS27_HUMAN	M	1013	ENSP00000354483:R1013M;ENSP00000271385:R1013M;ENSP00000404874:R1013M	ENSP00000271385:R1013M	R	+	2	0	DUSP27	165364030	0.904000	0.30761	0.990000	0.47175	0.599000	0.36880	1.617000	0.36943	0.255000	0.21593	0.643000	0.83706	AGG		0.552	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	227	1	0	5.9392e-07	1	6.36919e-07	5	227				
TM9SF4	9777	broad.mit.edu	37	20	30745667	30745667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:30745667G>T	ENST00000398022.2	+	14	1635	c.1400G>T	c.(1399-1401)gGc>gTc	p.G467V	TM9SF4_ENST00000217315.5_Missense_Mutation_p.G450V	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	467						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCTACTTGGGCTACTACTTC	0.592																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1348-1350)gGc>gTc		transmembrane 9 superfamily protein member 4							163.0	151.0	155.0					20																	30745667		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745667G>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1400G>T	20.37:g.30745667G>T	ENSP00000381104:p.Gly467Val		Somatic				TM9SF4_ENST00000398022.2_Missense_Mutation_p.G467V	p.G450V			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1689	+			467					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1349G>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832019	0.91036	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.77620	-1.11;-1.11	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95724	0.8769	10	0.87932	D	0	-18.6109	18.4218	0.90594	0.0:0.0:1.0:0.0	.	374;467	B4DH88;Q92544	.;TM9S4_HUMAN	V	467;450	ENSP00000381104:G467V;ENSP00000217315:G450V	ENSP00000217315:G450V	G	+	2	0	TM9SF4	30209328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.463000	0.97652	2.572000	0.86782	0.655000	0.94253	GGC		0.592	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		20	182	1	0	5.26018e-13	1	5.77158e-13	20	182				
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:11485944A>T	ENST00000423059.4	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2806-2808)agT>agA		thrombospondin, type I, domain containing 7A							127.0	124.0	125.0					7																	11485944		1798	4072	5870	SO:0001583	missense	221981					integral to membrane		g.chr7:11485944A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2808T>A	7.37:g.11485944A>T	ENSP00000406482:p.Ser936Arg	HNSCC(18;0.044)	Somatic				AC004538.3_ENST00000445839.1_RNA	p.S936R	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3059	-			936			TSP type-1 9.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2808T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925251	0.73213	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61040	0.14	5.74	0.842	0.18927	.	0.035332	0.85682	D	0.000000	T	0.68979	0.3060	M	0.75615	2.305	0.58432	D	0.99999	D	0.71674	0.998	D	0.77557	0.99	T	0.65450	-0.6165	10	0.24483	T	0.36	.	9.7422	0.40424	0.7303:0.0:0.2697:0.0	.	936	Q9UPZ6	THS7A_HUMAN	R	936	ENSP00000406482:S936R	ENSP00000262042:S936R	S	-	3	2	THSD7A	11452469	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.480000	0.22244	0.432000	0.26286	0.482000	0.46254	AGT		0.338	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		8	403	0	0	0	1	0	8	403				
HIVEP3	59269	broad.mit.edu	37	1	42048988	42048988	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:42048988C>T	ENST00000372583.1	-	4	2366	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R494H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	494	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATGCTGCTGCGCCTGGACAG	0.587																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1480-1482)cGc>cAc		human immunodeficiency virus type I enhancer binding protein 3							87.0	87.0	87.0					1																	42048988		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048988C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1481G>A	1.37:g.42048988C>T	ENSP00000361664:p.Arg494His		Somatic				HIVEP3_ENST00000372583.1_Missense_Mutation_p.R494H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494H	p.R494H	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	2495	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	494			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1481G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340783	0.60963	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	4.82	3.91	0.45181	.	0.122178	0.37809	N	0.001922	T	0.39886	0.1095	M	0.71206	2.165	0.40236	D	0.977906	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.38329	-0.9666	10	0.72032	D	0.01	0.0787	12.9088	0.58169	0.0:0.9206:0.0:0.0794	.	494;494	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	494	ENSP00000361665:R494H;ENSP00000361664:R494H;ENSP00000247584:R494H;ENSP00000410828:R494H	ENSP00000247584:R494H	R	-	2	0	HIVEP3	41821575	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	3.769000	0.55303	1.266000	0.44231	0.561000	0.74099	CGC		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	82	0	0	0	1	0	7	82				
KIAA0232	9778	broad.mit.edu	37	4	6882679	6882679	+	Nonsense_Mutation	SNP	C	C	T	rs369289730		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:6882679C>T	ENST00000307659.5	+	10	4629	c.4174C>T	c.(4174-4176)Cga>Tga	p.R1392*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R1392*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1392							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTCTTTTCTCGAACTCATCT	0.458																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(4174-4176)Cga>Tga		KIAA0232		C	stop/ARG,stop/ARG	1,3893		0,1,1946	49.0	59.0	56.0		4174,4174	4.6	1.0	4		56	0,8306		0,0,4153	no	stop-gained,stop-gained	KIAA0232	NM_001100590.1,NM_014743.2	,	0,1,6099	TT,TC,CC		0.0,0.0257,0.0082	,	1392/1396,1392/1396	6882679	1,12199	1947	4153	6100	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6882679C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.4174C>T	4.37:g.6882679C>T	ENSP00000303928:p.Arg1392*		Somatic				KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R1392*	p.R1392*	NM_014743.2	NP_055558.2	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			10	4629	+			1392					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.4174C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	47	13.219512	0.99728	2.57E-4	0.0	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.47	4.62	0.57501	.	0.000000	0.46145	D	0.000302	.	.	.	.	.	.	0.50171	D	0.999857	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7928	15.8086	0.78538	0.1367:0.8633:0.0:0.0	.	.	.	.	X	1392	.	ENSP00000303928:R1392X	R	+	1	2	KIAA0232	6933580	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.365000	0.52335	1.295000	0.44724	0.561000	0.74099	CGA		0.458	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		9	8	0	0	0	1	0	9	8				
NMRAL1	57407	broad.mit.edu	37	16	4511943	4511943	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:4511943G>A	ENST00000574733.1	-	6	1467	c.738C>T	c.(736-738)taC>taT	p.Y246Y	NMRAL1_ENST00000572391.1_5'Flank|NMRAL1_ENST00000574425.1_Silent_p.Y246Y|NMRAL1_ENST00000283429.6_Silent_p.Y246Y|NMRAL1_ENST00000404295.3_Silent_p.Y246Y			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	246						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAAGCTTTTCGTAGTCCTCAG	0.647																																						ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(736-738)taC>taT		NmrA-like family domain containing 1							92.0	94.0	93.0					16																	4511943		2197	4300	6497	SO:0001819	synonymous_variant	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4511943G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.738C>T	16.37:g.4511943G>A			Somatic				NMRAL1_ENST00000404295.3_Silent_p.Y246Y|NMRAL1_ENST00000283429.6_Silent_p.Y246Y|NMRAL1_ENST00000574425.1_Silent_p.Y246Y	p.Y246Y			WXS	Illumina GAIIx	Phase_I	Q9HBL8	NMRL1_HUMAN			6	1467	-			246						Silent	SNP	ENST00000574733.1	37	c.738C>T	CCDS10516.1																																																																																				0.647	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		34	75	0	0	0	1	0	34	75				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T			Somatic				HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	WXS	Illumina GAIIx	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	8	163	0	0	0	1	0	8	163				
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2						regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.e2-2		neuropilin (NRP) and tolloid (TLL)-like 2							173.0	166.0	168.0					16																	47165938		2202	4300	6502	SO:0001630	splice_region_variant	81831					integral to membrane	receptor activity	g.chr16:47165938T>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.35-2A>T	16.37:g.47165938T>A		HNSCC(25;0.065)	Somatic				NETO2_ENST00000303155.5_Splice_Site		NM_018092.4	NP_060562.3	WXS	Illumina GAIIx	Phase_I	Q8NC67	NETO2_HUMAN			2	419	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)						J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Splice_Site	SNP	ENST00000562435.1	37		CCDS10727.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270482	0.80469	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2987	0.73931	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO2	45723439	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	6.001000	0.70685	1.999000	0.58509	0.455000	0.32223	.		0.313	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	Intron	8	333	0	0	0	1	0	8	333				
KIAA1024	23251	broad.mit.edu	37	15	79750143	79750143	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:79750143C>T	ENST00000305428.3	+	2	1729	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	552						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTCTCAGCTCCATAAGTCAGA	0.512																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1654-1656)Cat>Tat		KIAA1024							79.0	65.0	70.0					15																	79750143		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750143C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1654C>T	15.37:g.79750143C>T	ENSP00000307461:p.His552Tyr		Somatic					p.H552Y	NM_015206.2	NP_056021.1	WXS	Illumina GAIIx	Phase_I	Q9UPX6	K1024_HUMAN			2	1729	+			552					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1654C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	8.853	0.945020	0.18356	.	.	ENSG00000169330	ENST00000305428	T	0.31769	1.48	5.21	4.22	0.49857	.	0.656319	0.14964	N	0.288193	T	0.26738	0.0654	L	0.51422	1.61	0.09310	N	1	P	0.34934	0.476	B	0.24974	0.057	T	0.12451	-1.0547	9	.	.	.	.	15.1311	0.72523	0.2014:0.7986:0.0:0.0	.	552	Q9UPX6	K1024_HUMAN	Y	552	ENSP00000307461:H552Y	.	H	+	1	0	KIAA1024	77537198	0.000000	0.05858	0.053000	0.19242	0.948000	0.59901	0.989000	0.29629	2.424000	0.82194	0.467000	0.42956	CAT		0.512	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	100	0	0	0	1	0	14	100				
PGPEP1L	145814	broad.mit.edu	37	15	99514268	99514268	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:99514268C>T	ENST00000378919.6	-	3	346	c.141G>A	c.(139-141)ccG>ccA	p.P47P	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_5'UTR	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	47							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CACTTACTTGCGGCTGATGAT	0.592																																						ENST00000378919.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(139-141)ccG>ccA		pyroglutamyl-peptidase I-like							62.0	63.0	63.0					15																	99514268		2088	4226	6314	SO:0001819	synonymous_variant	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99514268C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.141G>A	15.37:g.99514268C>T			Somatic				PGPEP1L_ENST00000535714.1_5'UTR|RP11-654A16.3_ENST00000559468.1_RNA	p.P47P	NM_001102612.2	NP_001096082.2	WXS	Illumina GAIIx	Phase_I	A6NFU8	PGPIL_HUMAN			3	346	-			47					H0YF86	Silent	SNP	ENST00000378919.6	37	c.141G>A	CCDS53977.1																																																																																				0.592	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		16	109	0	0	0	1	0	16	109				
ETV3L	440695	broad.mit.edu	37	1	157062456	157062456	+	Silent	SNP	G	G	T	rs542254548		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:157062456G>T	ENST00000454449.2	-	5	1355	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	357					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GAGGATCCAAGGGCCACACTG	0.572																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1069-1071)ccC>ccA		ets variant 3-like							69.0	73.0	71.0					1																	157062456		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062456G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.1071C>A	1.37:g.157062456G>T			Somatic					p.P357P	NM_001004341.2	NP_001004341.1	WXS	Illumina GAIIx	Phase_I	Q6ZN32	ETV3L_HUMAN			5	1355	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	357						Silent	SNP	ENST00000454449.2	37	c.1071C>A	CCDS30893.1																																																																																				0.572	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		110	137	1	0	7.95947e-74	1	8.98283e-74	110	137				
DAW1	164781	broad.mit.edu	37	2	228762944	228762944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:228762944A>T	ENST00000309931.2	+	6	570	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	DAW1_ENST00000545118.1_Missense_Mutation_p.S148C|DAW1_ENST00000373666.2_Missense_Mutation_p.S163C	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	163						cilium (GO:0005929)											TAAACTCTGGAGTGTGGAAAC	0.269																																						ENST00000373666.2																			0											c.(487-489)Agt>Tgt		dynein assembly factor with WDR repeat domains 1							44.0	47.0	46.0					2																	228762944		2203	4299	6502	SO:0001583	missense	164781							g.chr2:228762944A>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.487A>T	2.37:g.228762944A>T	ENSP00000311899:p.Ser163Cys		Somatic				DAW1_ENST00000545118.1_Missense_Mutation_p.S148C|DAW1_ENST00000309931.2_Missense_Mutation_p.S163C	p.S163C			WXS	Illumina GAIIx	Phase_I					6	1123	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.487A>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397949	0.42512	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.087925	0.85682	D	0.000000	T	0.65770	0.2723	M	0.80746	2.51	0.58432	D	0.999993	B	0.17852	0.024	B	0.22152	0.038	T	0.66143	-0.5997	10	0.54805	T	0.06	.	13.883	0.63691	1.0:0.0:0.0:0.0	.	163	Q8N136	WDR69_HUMAN	C	163;163;148	ENSP00000362770:S163C;ENSP00000311899:S163C;ENSP00000437887:S148C	ENSP00000311899:S163C	S	+	1	0	WDR69	228471188	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.906000	0.69900	1.973000	0.57446	0.454000	0.30748	AGT		0.269	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		3	66	0	0	0	1	0	3	66				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						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)	TTTCTCTGTTAGTTAATTGCA	0.418																																					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.e9-1		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)						66.0	65.0	65.0					12																	7172402		2203	4300	6503	SO:0001630	splice_region_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172402A>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.518-1A>T	12.37:g.7172402A>T			Somatic				C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			9	1145	+								D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Splice_Site	SNP	ENST00000406697.1	37		CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.745149	0.30955	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1S	7042663	1.000000	0.71417	0.987000	0.45799	0.181000	0.23173	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	.		0.418	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	Intron	13	151	0	0	0	1	0	13	151				
FSTL4	23105	broad.mit.edu	37	5	132561349	132561349	+	Splice_Site	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:132561349C>A	ENST00000265342.7	-	9	1427		c.e9+1		FSTL4_ENST00000507112.1_Splice_Site|CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTTCTTACCTAAAAGGGA	0.453																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.e9+1		follistatin-like 4							136.0	126.0	129.0					5																	132561349		2203	4300	6503	SO:0001630	splice_region_variant	23105					extracellular region	calcium ion binding	g.chr5:132561349C>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1177+1G>T	5.37:g.132561349C>A			Somatic				FSTL4_ENST00000507112.1_Splice_Site		NM_015082.1	NP_055897.1	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1427	-		all_cancers(142;0.244)						Q8TBU0|Q9UPU1	Splice_Site	SNP	ENST00000265342.7	37		CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460189	0.84317	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4248	0.94737	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL4	132589248	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.487000	0.81328	2.837000	0.97791	0.591000	0.81541	.		0.453	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	Intron	63	195	1	0	7.1157e-29	1	7.99251e-29	63	195				
FAM161A	84140	broad.mit.edu	37	2	62067095	62067095	+	Nonsense_Mutation	SNP	A	A	T	rs549784796		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:62067095A>T	ENST00000405894.3	-	3	1145	c.1044T>A	c.(1042-1044)taT>taA	p.Y348*	FAM161A_ENST00000404929.1_Nonsense_Mutation_p.Y348*	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	348					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTTTTTATACTTAAGAA	0.398																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1042-1044)taT>taA		family with sequence similarity 161, member A							104.0	101.0	102.0					2																	62067095		1842	4095	5937	SO:0001587	stop_gained	84140				response to stimulus|visual perception	centrosome		g.chr2:62067095A>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1044T>A	2.37:g.62067095A>T	ENSP00000385893:p.Tyr348*		Somatic				FAM161A_ENST00000405894.3_Nonsense_Mutation_p.Y348*	p.Y348*	NM_001201543.1	NP_001188472.1	WXS	Illumina GAIIx	Phase_I	Q3B820	F161A_HUMAN			3	1055	-			348					B4DJV7|Q9H8R2	Nonsense_Mutation	SNP	ENST00000405894.3	37	c.1044T>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	37	6.132342	0.97310	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	.	.	.	5.41	5.41	0.78517	.	0.862713	0.10726	N	0.641144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-14.6114	9.3195	0.37955	0.7274:0.0:0.0:0.2726	.	.	.	.	X	348	.	ENSP00000385158:Y348X	Y	-	3	2	FAM161A	61920599	0.994000	0.37717	0.983000	0.44433	0.867000	0.49689	1.297000	0.33400	2.035000	0.60131	0.533000	0.62120	TAT		0.398	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		6	209	0	0	0	1	0	6	209				
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.e6-2		RNA binding motif protein 23							62.0	54.0	57.0					14																	23374870		1844	4094	5938	SO:0001630	splice_region_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374870T>A	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.402-2A>T	14.37:g.23374870T>A			Somatic				RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site		NM_001077351.1	NP_001070819.1	WXS	Illumina GAIIx	Phase_I	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	6	597	-	all_cancers(95;4.69e-05)							D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Splice_Site	SNP	ENST00000359890.3	37		CCDS41921.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257327	0.39896	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8912	0.63740	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM23	22444710	0.981000	0.34729	0.241000	0.24154	0.005000	0.04900	3.891000	0.56227	2.179000	0.69175	0.533000	0.62120	.		0.398	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		Intron	5	151	0	0	0	1	0	5	151				
SLC9A2	6549	broad.mit.edu	37	2	103311500	103311500	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:103311500A>T	ENST00000233969.2	+	7	1657		c.e7-1		SLC9A2_ENST00000469286.1_Splice_Site	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2						ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTCTGTTTTAGTTGTTTGAT	0.353																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e7-1		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							211.0	214.0	213.0					2																	103311500		2203	4300	6503	SO:0001630	splice_region_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103311500A>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1516-1A>T	2.37:g.103311500A>T			Somatic				SLC9A2_ENST00000469286.1_Splice_Site		NM_003048.3	NP_003039.2	WXS	Illumina GAIIx	Phase_I	Q9UBY0	SL9A2_HUMAN			7	1657	+								B2RMS2	Splice_Site	SNP	ENST00000233969.2	37		CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097868	0.76870	.	.	ENSG00000115616	ENST00000233969	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A2	102677932	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.187000	0.77730	2.254000	0.74563	0.533000	0.62120	.		0.353	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		Intron	7	209	0	0	0	1	0	7	209				
CLSTN2	64084	broad.mit.edu	37	3	140251164	140251164	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:140251164A>T	ENST00000458420.3	+	9	1534		c.e9-1			NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCTTTTCTTAGATTTGTGAC	0.363										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.e9-1		calsyntenin 2							104.0	100.0	102.0					3																	140251164		2203	4300	6503	SO:0001630	splice_region_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251164A>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1345-1A>T	3.37:g.140251164A>T		HNSCC(16;0.037)	Somatic						NM_022131.2	NP_071414.2	WXS	Illumina GAIIx	Phase_I	Q9H4D0	CSTN2_HUMAN			9	1534	+								B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Splice_Site	SNP	ENST00000458420.3	37		CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388523	0.82902	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1334	0.65270	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLSTN2	141733854	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	.		0.363	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	Intron	6	209	0	0	0	1	0	6	209				
SLIT2	9353	broad.mit.edu	37	4	20552448	20552448	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:20552448A>T	ENST00000504154.1	+	25	2741		c.e25-1		SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTCTTTTAGTTCTCTACA	0.313																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.e25-1		slit homolog 2 (Drosophila)							126.0	119.0	122.0					4																	20552448		2202	4300	6502	SO:0001630	splice_region_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20552448A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2490-1A>T	4.37:g.20552448A>T			Somatic				SLIT2_ENST00000509394.2_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site		NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			25	2741	+								B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	ENST00000504154.1	37		CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275572	0.59649	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20161546	1.000000	0.71417	0.916000	0.36221	0.476000	0.33039	9.200000	0.95010	2.367000	0.80283	0.528000	0.53228	.		0.313	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		Intron	4	103	0	0	0	1	0	4	103				
KLHL7	55975	broad.mit.edu	37	7	23180386	23180386	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:23180386A>T	ENST00000339077.5	+	5	685		c.e5-1		KLHL7_ENST00000409689.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000322231.7_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGTTTAGGTATAAGTG	0.318																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e6-1		kelch-like family member 7							59.0	59.0	59.0					7																	23180386		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23180386A>T		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.443-1A>T	7.37:g.23180386A>T			Somatic				KLHL7_ENST00000339077.4_Splice_Site|KLHL7_ENST00000545443.1_Splice_Site|KLHL7_ENST00000479288.1_Splice_Site|KLHL7_ENST00000542558.1_Splice_Site|KLHL7_ENST00000539124.1_Splice_Site|KLHL7_ENST00000409689.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8IXQ5	KLHL7_HUMAN			6	866	+								A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37		CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334168	0.41297	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHL7	23146911	1.000000	0.71417	0.978000	0.43139	0.327000	0.28475	8.606000	0.90888	2.032000	0.59987	0.379000	0.24179	.		0.318	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Intron	5	128	0	0	0	1	0	5	128				
KPNA3	3839	broad.mit.edu	37	13	50279921	50279921	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:50279921T>A	ENST00000261667.3	-	15	1624		c.e15-2			NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTACTCAACCTAGACAACAAA	0.388																																						ENST00000261667.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21						c.e15-2		karyopherin alpha 3 (importin alpha 4)							47.0	43.0	45.0					13																	50279921		2203	4298	6501	SO:0001630	splice_region_variant	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50279921T>A	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1210-2A>T	13.37:g.50279921T>A			Somatic						NM_002267.3	NP_002258.2	WXS	Illumina GAIIx	Phase_I	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	15	1624	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)						O00191|O43195|Q5JVM9|Q96AA7	Splice_Site	SNP	ENST00000261667.3	37		CCDS9421.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024532	0.75390	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8108	0.78561	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KPNA3	49177922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.960000	0.87893	2.142000	0.66516	0.533000	0.62120	.		0.388	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	Intron	5	96	0	0	0	1	0	5	96				
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:155533589T>A	ENST00000336098.3	-	2	117		c.e2-2		FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site|FGG_ENST00000404648.3_Splice_Site	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAACATACTAAAAGAGAAA	0.358																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e2-2		fibrinogen gamma chain	Sucralfate(DB00364)						104.0	115.0	111.0					4																	155533589		2199	4299	6498	SO:0001630	splice_region_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533589T>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.79-2A>T	4.37:g.155533589T>A			Somatic				FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000405164.1_Splice_Site|FGG_ENST00000407946.1_Splice_Site		NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			2	318	-	all_hematologic(180;0.215)	Renal(120;0.0458)						A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	ENST00000336098.3	37		CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552707	0.65425	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FGG	155753039	1.000000	0.71417	0.940000	0.37924	0.833000	0.47200	5.924000	0.70054	2.236000	0.73375	0.533000	0.62120	.		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	Intron	6	252	0	0	0	1	0	6	252				
PARP14	54625	broad.mit.edu	37	3	122418235	122418235	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:122418235A>T	ENST00000474629.2	+	6	1101		c.e6-1			NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTTCCTTTTAAGTGTTAGACA	0.338																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.e6-1		poly (ADP-ribose) polymerase family, member 14							56.0	51.0	52.0					3																	122418235		1865	4100	5965	SO:0001630	splice_region_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418235A>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.836-1A>T	3.37:g.122418235A>T			Somatic						NM_017554.2	NP_060024.2	WXS	Illumina GAIIx	Phase_I	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1101	+								B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Splice_Site	SNP	ENST00000474629.2	37		CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.722025	0.48728	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	.	.	.	5.46	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.33790	D	0.625338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8969	0.35470	0.8647:0.0:0.1353:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARP14	123900925	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.833000	0.86765	2.291000	0.77112	0.533000	0.62120	.		0.338	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	Intron	4	91	0	0	0	1	0	4	91				
TSHZ1	10194	broad.mit.edu	37	18	72998891	72998891	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr18:72998891C>A	ENST00000580243.1	+	2	1877	c.1529C>A	c.(1528-1530)gCt>gAt	p.A510D	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A465D			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	510					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGCCTGTGGCTGGCGACGCG	0.602																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1393-1395)gCt>gAt		teashirt zinc finger homeobox 1							83.0	98.0	93.0					18																	72998891		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998891C>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1529C>A	18.37:g.72998891C>A	ENSP00000464391:p.Ala510Asp		Somatic				TSHZ1_ENST00000580243.1_Missense_Mutation_p.A510D	p.A465D	NM_005786.5	NP_005777.3	WXS	Illumina GAIIx	Phase_I	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1978	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	510					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1394C>A		.	.	.	.	.	.	.	.	.	.	C	0.616	-0.822953	0.02755	.	.	ENSG00000179981	ENST00000322038	T	0.30182	1.54	5.35	-1.19	0.09585	.	0.905066	0.09584	N	0.782460	T	0.08582	0.0213	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.12766	T	0.61	-7.2991	1.7816	0.03033	0.1173:0.2336:0.2309:0.4183	.	510	Q6ZSZ6	TSH1_HUMAN	D	465	ENSP00000323584:A465D	ENSP00000323584:A465D	A	+	2	0	TSHZ1	71127879	0.303000	0.24463	0.000000	0.03702	0.192000	0.23643	1.459000	0.35234	-0.977000	0.03537	0.459000	0.35465	GCT		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		3	82	1	0	6.4e-05	1	6.77143e-05	3	82				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			11	246	0	0	0	1	0	11	246				
NTNG2	84628	broad.mit.edu	37	9	135073688	135073688	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:135073688C>T	ENST00000393229.3	+	3	1325	c.549C>T	c.(547-549)cgC>cgT	p.R183R	NTNG2_ENST00000360670.3_Silent_p.R183R|NTNG2_ENST00000393228.4_Silent_p.R183R|NTNG2_ENST00000372179.3_Silent_p.R183R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	183	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCGGGCCCGCGACATGTCAT	0.672																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(547-549)cgC>cgT		netrin G2							29.0	24.0	26.0					9																	135073688		2197	4287	6484	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073688C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.549C>T	9.37:g.135073688C>T			Somatic				NTNG2_ENST00000360670.3_Silent_p.R183R|NTNG2_ENST00000372179.3_Silent_p.R183R|NTNG2_ENST00000393228.4_Silent_p.R183R	p.R183R	NM_032536.2	NP_115925.2	WXS	Illumina GAIIx	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1325	+			183			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.549C>T	CCDS6946.1																																																																																				0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		7	6	0	0	0	1	0	7	6				
ORMDL3	94103	broad.mit.edu	37	17	38079505	38079505	+	Silent	SNP	G	G	A	rs568441883		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:38079505G>A	ENST00000394169.1	-	5	1680	c.186C>T	c.(184-186)atC>atT	p.I62I	ORMDL3_ENST00000584220.1_Silent_p.I46I|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000579695.1_Silent_p.I62I|ORMDL3_ENST00000304046.2_Silent_p.I62I			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	62					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TGTGCAGGAAGATATACATGC	0.562																																						ENST00000394169.1																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(184-186)atC>atT		ORM1-like 3 (S. cerevisiae)							144.0	142.0	142.0					17																	38079505		2203	4300	6503	SO:0001819	synonymous_variant	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38079505G>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.186C>T	17.37:g.38079505G>A			Somatic				ORMDL3_ENST00000584220.1_Silent_p.I46I|ORMDL3_ENST00000304046.2_Silent_p.I62I|ORMDL3_ENST00000579695.1_Silent_p.I62I	p.I62I			WXS	Illumina GAIIx	Phase_I	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		5	1680	-	Colorectal(19;0.000442)		62					B3KS83|Q6UY83	Silent	SNP	ENST00000394169.1	37	c.186C>T	CCDS11355.1																																																																																				0.562	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		41	150	0	0	0	1	0	41	150				
ZNF609	23060	broad.mit.edu	37	15	64967277	64967277	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:64967277G>A	ENST00000326648.3	+	4	2352	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	742						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGAACTTGAAAGTCCTCT	0.468																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2224-2226)Gaa>Aaa		zinc finger protein 609							89.0	101.0	97.0					15																	64967277		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967277G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2224G>A	15.37:g.64967277G>A	ENSP00000316527:p.Glu742Lys		Somatic					p.E742K	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			4	2352	+			742					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2224G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730872	0.69074	.	.	ENSG00000180357	ENST00000326648	T	0.46451	0.87	5.79	5.79	0.91817	.	0.087426	0.85682	D	0.000000	T	0.39682	0.1087	L	0.34521	1.04	0.80722	D	1	P	0.42518	0.782	P	0.46076	0.503	T	0.07347	-1.0777	10	0.06625	T	0.88	-21.2925	20.0349	0.97554	0.0:0.0:1.0:0.0	.	742	O15014	ZN609_HUMAN	K	742	ENSP00000316527:E742K	ENSP00000316527:E742K	E	+	1	0	ZNF609	62754330	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	8.008000	0.88588	2.735000	0.93741	0.591000	0.81541	GAA		0.468	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	405	0	0	0	1	0	7	405				
USH2A	7399	broad.mit.edu	37	1	216246629	216246629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:216246629G>T	ENST00000307340.3	-	28	5972	c.5586C>A	c.(5584-5586)tgC>tgA	p.C1862*	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Nonsense_Mutation_p.C1862*|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1862	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CATCCTTCATGCAACCACCGA	0.433										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.(5584-5586)tgC>tgA		Usher syndrome 2A (autosomal recessive, mild)							68.0	56.0	60.0					1																	216246629		2203	4300	6503	SO:0001587	stop_gained	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.chr1:216246629G>T	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.5586C>A	1.37:g.216246629G>T	ENSP00000305941:p.Cys1862*	HNSCC(13;0.011)	Somatic				RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.C1862*|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	p.C1862*			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	5972	-			1862			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.5586C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	50	16.747350	0.99871	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.93	5.01	0.66863	.	0.000000	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.442	0.44471	0.0692:0.1352:0.7956:0.0	.	.	.	.	X	1862	.	ENSP00000305941:C1862X	C	-	3	2	USH2A	214313252	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	4.566000	0.60843	1.487000	0.48415	0.655000	0.94253	TGC		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	100	1	0	1.23904e-05	1	1.31683e-05	5	100				
ZNRF4	148066	broad.mit.edu	37	19	5456330	5456330	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:5456330G>T	ENST00000222033.4	+	1	905	c.828G>T	c.(826-828)tgG>tgT	p.W276C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	276						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCACCTGTGGCTCTGGGCCC	0.652																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(826-828)tgG>tgT		zinc and ring finger 4							37.0	42.0	40.0					19																	5456330		2071	4193	6264	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456330G>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.828G>T	19.37:g.5456330G>T	ENSP00000222033:p.Trp276Cys		Somatic					p.W276C	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	905	+			276					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.828G>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450858	0.63290	.	.	ENSG00000105428	ENST00000222033	T	0.04862	3.54	3.97	2.87	0.33458	.	.	.	.	.	T	0.14270	0.0345	L	0.36672	1.1	0.44439	D	0.997366	D	0.76494	0.999	D	0.79784	0.993	T	0.01010	-1.1482	9	0.56958	D	0.05	-17.287	10.5319	0.44981	0.0:0.1982:0.8018:0.0	.	276	Q8WWF5	ZNRF4_HUMAN	C	276	ENSP00000222033:W276C	ENSP00000222033:W276C	W	+	3	0	ZNRF4	5407330	0.153000	0.22777	0.014000	0.15608	0.694000	0.40290	1.096000	0.30976	0.719000	0.32188	0.491000	0.48974	TGG		0.652	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		8	85	1	0	0.00829132	1	0.00847001	8	85				
KIAA1024	23251	broad.mit.edu	37	15	79749003	79749003	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:79749003G>A	ENST00000305428.3	+	2	589	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	172						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTTTGTCCCTGCCTCTGAGCC	0.587																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(514-516)Gcc>Acc		KIAA1024							55.0	60.0	58.0					15																	79749003		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749003G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.514G>A	15.37:g.79749003G>A	ENSP00000307461:p.Ala172Thr		Somatic					p.A172T	NM_015206.2	NP_056021.1	WXS	Illumina GAIIx	Phase_I	Q9UPX6	K1024_HUMAN			2	589	+			172					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.514G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	2.502	-0.314977	0.05422	.	.	ENSG00000169330	ENST00000305428	T	0.38240	1.15	5.51	4.59	0.56863	.	0.340226	0.35378	N	0.003253	T	0.29389	0.0732	L	0.41236	1.265	0.25181	N	0.990208	B	0.13594	0.008	B	0.16289	0.015	T	0.13899	-1.0492	9	.	.	.	.	12.8137	0.57652	0.0:0.0:0.6866:0.3134	.	172	Q9UPX6	K1024_HUMAN	T	172	ENSP00000307461:A172T	.	A	+	1	0	KIAA1024	77536058	0.845000	0.29573	0.249000	0.24280	0.740000	0.42216	1.547000	0.36190	1.294000	0.44707	-0.293000	0.09583	GCC		0.587	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		7	108	0	0	0	1	0	7	108				
BIN2	51411	broad.mit.edu	37	12	51693389	51693389	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:51693389A>T	ENST00000267012.4	-	6	578		c.e6+1		BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000604560.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2						cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTTTGTTTTACCTTGGCAGT	0.502																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.e6+1		bridging integrator 2							127.0	131.0	129.0					12																	51693389		2203	4300	6503	SO:0001630	splice_region_variant	51411					cytoplasm	protein binding	g.chr12:51693389A>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.516+1T>A	12.37:g.51693389A>T			Somatic				BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000604560.1_Splice_Site|BIN2_ENST00000544402.1_Splice_Site		NM_016293.2	NP_057377.2	WXS	Illumina GAIIx	Phase_I	Q9UBW5	BIN2_HUMAN			6	578	-								Q86VV0|Q9NWK4|Q9UKN4	Splice_Site	SNP	ENST00000267012.4	37		CCDS8811.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993188	0.54041	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3826	0.55315	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BIN2	49979656	1.000000	0.71417	0.991000	0.47740	0.452000	0.32318	8.395000	0.90188	2.090000	0.63153	0.533000	0.62120	.		0.502	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		Intron	7	294	0	0	0	1	0	7	294				
PCDHGA7	56108	broad.mit.edu	37	5	140762827	140762827	+	Missense_Mutation	SNP	G	G	T	rs375487349		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:140762827G>T	ENST00000518325.1	+	1	361	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	121	Cadherin 1. {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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTATAGACGTGGAAATAAT	0.413																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(361-363)Gtg>Ttg									60.0	69.0	66.0					5																	140762827		1992	4196	6188	SO:0001583	missense	56108							g.chr5:140762827G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.361G>T	5.37:g.140762827G>T	ENSP00000430024:p.Val121Leu		Somatic				PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.V121L	NM_018920.2	NP_061743.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	361	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.361G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801682	0.50315	.	.	ENSG00000253537	ENST00000518325	T	0.60424	0.19	5.01	5.01	0.66863	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.72938	0.3523	M	0.70595	2.14	0.32505	N	0.538394	P;D	0.63880	0.542;0.993	B;P	0.59889	0.329;0.865	T	0.78336	-0.2243	9	0.49607	T	0.09	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	121;121	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	121	ENSP00000430024:V121L	ENSP00000430024:V121L	V	+	1	0	PCDHGA7	140743011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.684000	0.68197	2.475000	0.83589	0.655000	0.94253	GTG		0.413	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	188	1	0	1.024e-07	1	1.10816e-07	5	188				
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000392061.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(3145-3147)acT>acA		CCAAT/enhancer binding protein (C/EBP), zeta							37.0	37.0	37.0					2																	37428925		2203	4299	6502	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37428925A>T	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.3147T>A	2.37:g.37428925A>T			Somatic				AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000397064.2_Intron	p.T1049T	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			16	3292	-		all_hematologic(82;0.21)	1049					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.3147T>A	CCDS1787.1																																																																																				0.294	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		5	28	0	0	0	1	0	5	28				
ABCA7	10347	broad.mit.edu	37	19	1062196	1062196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:1062196C>T	ENST00000263094.6	+	42	5827	c.5596C>T	c.(5596-5598)Cac>Tac	p.H1866Y	ABCA7_ENST00000433129.1_Missense_Mutation_p.H1866Y|ABCA7_ENST00000435683.2_Missense_Mutation_p.H1728Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1866	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGCTGCGCACCTCAGCAT	0.667																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(5596-5598)Cac>Tac		ATP-binding cassette, sub-family A (ABC1), member 7							92.0	101.0	98.0					19																	1062196		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1062196C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5596C>T	19.37:g.1062196C>T	ENSP00000263094:p.His1866Tyr		Somatic				ABCA7_ENST00000435683.2_Missense_Mutation_p.H1728Y|ABCA7_ENST00000433129.1_Missense_Mutation_p.H1866Y	p.H1866Y	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	42	5827	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1866			ABC transporter 2.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.5596C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438494	0.25900	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.93811	-3.29;-3.29	3.61	1.4	0.22301	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.89938	0.6860	N	0.03238	-0.38	0.09310	N	1	D;P	0.56968	0.978;0.723	D;P	0.69142	0.962;0.489	T	0.81724	-0.0802	9	0.87932	D	0	.	8.5235	0.33291	0.0:0.7992:0.0:0.2008	.	991;1866	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	Y	1866	ENSP00000263094:H1866Y;ENSP00000414062:H1866Y	ENSP00000263094:H1866Y	H	+	1	0	ABCA7	1013196	0.173000	0.23056	0.211000	0.23655	0.009000	0.06853	1.559000	0.36320	0.228000	0.21019	-0.266000	0.10368	CAC		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		13	58	0	0	0	1	0	13	58				
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.e7-2		prolyl endopeptidase	Oxytocin(DB00107)						79.0	86.0	84.0					6																	105800954		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105800954T>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.718-2A>T	6.37:g.105800954T>A			Somatic						NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			7	910	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)						Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37		CCDS5053.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404919	0.62288	.	.	ENSG00000085377	ENST00000369110	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9901	0.71381	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PREP	105907647	1.000000	0.71417	0.960000	0.40013	0.657000	0.38888	4.794000	0.62482	2.240000	0.73641	0.533000	0.62120	.		0.343	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Intron	6	101	0	0	0	1	0	6	101				
PSG7	5676	broad.mit.edu	37	19	43433624	43433624	+	RNA	SNP	G	G	A	rs376395338		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:43433624G>A	ENST00000406070.2	-	0	775				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)				GGGTCACTGCGGCTGGCACTC	0.527													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19633	0.0		0.0	False		,,,				2504	0.0					ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		G	CYS/ARG,CYS/ARG	1,4401		0,1,2200	224.0	241.0	235.0		313,679	-0.2	0.0	19		235	0,8592		0,0,4296	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	180,180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	105/298,227/420	43433624	1,12993	2201	4296	6497			5676				female pregnancy	extracellular region		g.chr19:43433624G>A			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.43433624G>A			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	768	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	816	0	0	0	1	0	13	816				
MARK2	2011	broad.mit.edu	37	11	63667482	63667482	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:63667482G>A	ENST00000509502.2	+	8	1032	c.569G>A	c.(568-570)gGc>gAc	p.G190D	MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D|MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000402010.2_Missense_Mutation_p.G223D	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTTCCAGGGCAAAAAATAT	0.502																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(667-669)gGc>gAc		MAP/microtubule affinity-regulating kinase 2							129.0	138.0	135.0					11																	63667482		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63667482G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.569G>A	11.37:g.63667482G>A	ENSP00000423974:p.Gly190Asp		Somatic				MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D	p.G223D	NM_001039469.2	NP_001034558.2	WXS	Illumina GAIIx	Phase_I	Q7KZI7	MARK2_HUMAN			8	1247	+			223			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.668G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	33	5.251318	0.95305	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057355	0.64402	D	0.000001	T	0.54175	0.1842	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.99;1.0	D;D;D;D;P;D	0.91635	0.998;0.997;0.918;0.999;0.895;0.999	T	0.53180	-0.8475	10	0.87932	D	0	.	18.2974	0.90151	0.0:0.0:1.0:0.0	.	190;190;223;223;223;223	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	D	223;223;223;223;190;223;223;223;223;190;190;190;190	ENSP00000385751:G223D;ENSP00000326632:G223D;ENSP00000367040:G223D;ENSP00000389184:G223D;ENSP00000367041:G190D;ENSP00000425765:G223D;ENSP00000355091:G223D;ENSP00000294247:G223D;ENSP00000423974:G190D;ENSP00000421075:G190D;ENSP00000386128:G190D;ENSP00000415494:G190D	ENSP00000326632:G223D	G	+	2	0	MARK2	63424058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.654000	0.98509	2.853000	0.98044	0.645000	0.84053	GGC		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		6	409	0	0	0	1	0	6	409				
TMEM57	55219	broad.mit.edu	37	1	25784983	25784983	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:25784983T>A	ENST00000374343.4	+	6	933	c.754T>A	c.(754-756)Tac>Aac	p.Y252N	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	252					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGATAGAATACCGAGAAAA	0.378																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(754-756)Tac>Aac		transmembrane protein 57							110.0	116.0	114.0					1																	25784983		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25784983T>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.754T>A	1.37:g.25784983T>A	ENSP00000363463:p.Tyr252Asn		Somatic				TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	p.Y252N	NM_018202.4	NP_060672.2	WXS	Illumina GAIIx	Phase_I	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	6	933	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	252					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.754T>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868140	0.72065	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.78	5.78	0.91487	.	0.053861	0.85682	D	0.000000	T	0.61173	0.2326	L	0.57536	1.79	0.80722	D	1	P	0.51791	0.948	P	0.49192	0.602	T	0.58289	-0.7662	9	0.22109	T	0.4	-9.3307	15.2958	0.73906	0.0:0.0:0.0:1.0	.	252	Q8N5G2	MACOI_HUMAN	N	252	.	ENSP00000363463:Y252N	Y	+	1	0	TMEM57	25657570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.673000	0.83973	2.200000	0.70718	0.460000	0.39030	TAC		0.378	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		4	115	0	0	0	1	0	4	115				
C1orf141	400757	broad.mit.edu	37	1	67559001	67559001	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:67559001A>T	ENST00000371007.2	-	8	999	c.890T>A	c.(889-891)cTa>cAa	p.L297Q	C1orf141_ENST00000544837.1_Missense_Mutation_p.L297Q|C1orf141_ENST00000371006.1_Missense_Mutation_p.L297Q	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	297										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTTCTTTAGTTTATCATC	0.343																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(889-891)cTa>cAa		chromosome 1 open reading frame 141							83.0	85.0	84.0					1																	67559001		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67559001A>T	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.890T>A	1.37:g.67559001A>T	ENSP00000360046:p.Leu297Gln		Somatic				C1orf141_ENST00000371006.1_Missense_Mutation_p.L297Q|C1orf141_ENST00000544837.1_Missense_Mutation_p.L297Q	p.L297Q	NM_001276351.1	NP_001263280.1	WXS	Illumina GAIIx	Phase_I	Q5JVX7	CA141_HUMAN			8	999	-			297					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.890T>A	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244864	0.22796	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.34072	1.38;1.38;1.38	4.73	-8.99	0.00751	.	2.791680	0.01830	N	0.034626	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.13548	-1.0505	10	0.23302	T	0.38	3.7566	0.3697	0.00377	0.2593:0.2142:0.2793:0.2471	.	297	Q5JVX7	CA141_HUMAN	Q	297	ENSP00000360046:L297Q;ENSP00000360045:L297Q;ENSP00000444018:L297Q	ENSP00000360045:L297Q	L	-	2	0	C1orf141	67331589	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.080000	0.03407	-1.766000	0.01302	-1.139000	0.01908	CTA		0.343	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		4	82	0	0	0	1	0	4	82				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y	p.N174Y			WXS	Illumina GAIIx	Phase_I	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		6	162	0	0	0	1	0	6	162				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T			Somatic				DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site		NM_025000.3	NP_079276.2	WXS	Illumina GAIIx	Phase_I	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	6	110	0	0	0	1	0	6	110				
MUC16	94025	broad.mit.edu	37	19	9008347	9008347	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:9008347T>A	ENST00000397910.4	-	41	39410		c.e41-2			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TTCTCAGACCTGGGGAAGGTA	0.537																																						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.e41-2		mucin 16, cell surface associated							90.0	81.0	84.0					19																	9008347		1918	4134	6052	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9008347T>A	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.39207-2A>T	19.37:g.9008347T>A			Somatic						NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			41	39410	-								Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37		CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.781	0.328463	0.10956	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0549	0.19807	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC16	8869347	0.941000	0.31946	0.022000	0.16811	0.012000	0.07955	4.164000	0.58190	1.179000	0.42884	0.164000	0.16699	.		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Intron	9	602	0	0	0	1	0	9	602				
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100479340T>G	ENST00000347433.4	+	4	470	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000388793.4_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	104					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607																																						ENST00000388793.4																			1	Substitution - coding silent(1)	p.G104G(1)	endometrium(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(310-312)ggT>ggG		serrate RNA effector molecule homolog (Arabidopsis)							29.0	31.0	30.0					7																	100479340		2199	4294	6493	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479340T>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.312T>G	7.37:g.100479340T>G			Somatic				SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000347433.4_Silent_p.G104G	p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina GAIIx	Phase_I	Q9BXP5	SRRT_HUMAN			4	532	+			104					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.312T>G	CCDS34709.1																																																																																				0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		6	123	0	0	0	1	0	6	123				
TRUB2	26995	broad.mit.edu	37	9	131071988	131071988	+	Missense_Mutation	SNP	G	G	C	rs201948048		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131071988G>C	ENST00000372890.4	-	8	1170	c.837C>G	c.(835-837)atC>atG	p.I279M	TRUB2_ENST00000546104.1_Missense_Mutation_p.I223M|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	279					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TAGCATCCTGGATGTTGGTTA	0.622																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(835-837)atC>atG		TruB pseudouridine (psi) synthase family member 2							71.0	66.0	67.0					9																	131071988		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071988G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.837C>G	9.37:g.131071988G>C	ENSP00000361982:p.Ile279Met		Somatic				TRUB2_ENST00000546104.1_Missense_Mutation_p.I223M|TRUB2_ENST00000460320.1_5'UTR	p.I279M	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1170	-			279					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.837C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373211	0.42105	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.15017	2.46;2.46	5.68	3.51	0.40186	Pseudouridine synthase, catalytic domain (1);	0.102441	0.64402	D	0.000003	T	0.40119	0.1104	M	0.86864	2.845	0.53688	D	0.999976	D	0.89917	1.0	D	0.70935	0.971	T	0.32295	-0.9912	10	0.87932	D	0	-29.7138	5.553	0.17101	0.1286:0.1224:0.6238:0.1252	.	279	O95900	TRUB2_HUMAN	M	279;223	ENSP00000361982:I279M;ENSP00000438084:I223M	ENSP00000361982:I279M	I	-	3	3	TRUB2	130111809	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	1.553000	0.36255	1.393000	0.46605	0.561000	0.74099	ATC		0.622	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		19	54	0	0	0	1	0	19	54				
TRUB2	26995	broad.mit.edu	37	9	131072107	131072107	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:131072107G>A	ENST00000372890.4	-	8	1051	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	TRUB2_ENST00000546104.1_Missense_Mutation_p.H184Y|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	240					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCGATTTCATGAACCAACTTC	0.572																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(718-720)Cat>Tat		TruB pseudouridine (psi) synthase family member 2							127.0	103.0	111.0					9																	131072107		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131072107G>A	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.718C>T	9.37:g.131072107G>A	ENSP00000361982:p.His240Tyr		Somatic				TRUB2_ENST00000546104.1_Missense_Mutation_p.H184Y|TRUB2_ENST00000460320.1_5'UTR	p.H240Y	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1051	-			240					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.718C>T	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797976	0.70567	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.14144	2.53;2.53	5.56	5.56	0.83823	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01195	-1.1422	10	0.36615	T	0.2	-19.6386	19.5251	0.95201	0.0:0.0:1.0:0.0	.	240	O95900	TRUB2_HUMAN	Y	240;184	ENSP00000361982:H240Y;ENSP00000438084:H184Y	ENSP00000361982:H240Y	H	-	1	0	TRUB2	130111928	1.000000	0.71417	0.998000	0.56505	0.130000	0.20726	8.560000	0.90712	2.613000	0.88420	0.561000	0.74099	CAT		0.572	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		8	83	0	0	0	1	0	8	83				
MED27	9442	broad.mit.edu	37	9	134889767	134889767	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:134889767G>A	ENST00000292035.5	-	3	499	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MED27_ENST00000357028.2_Missense_Mutation_p.R146C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTTGGTCTACGTTTGGCAGAT	0.428																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(436-438)Cgt>Tgt		mediator complex subunit 27							147.0	124.0	132.0					9																	134889767		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134889767G>A	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.436C>T	9.37:g.134889767G>A	ENSP00000292035:p.Arg146Cys		Somatic				MED27_ENST00000372184.3_Missense_Mutation_p.R146C|MED27_ENST00000357028.2_Missense_Mutation_p.R108C	p.R146C	NM_004269.3	NP_004260.2	WXS	Illumina GAIIx	Phase_I	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	3	499	-		Myeloproliferative disorder(178;0.206)	146					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.436C>T	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277354	0.80580	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76575	0.973;0.988;0.799	T	0.79356	-0.1837	9	0.87932	D	0	-23.6762	18.7019	0.91623	0.0:0.0:1.0:0.0	.	146;146;146	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	C	146;108;146	.	ENSP00000292035:R146C	R	-	1	0	MED27	133879588	1.000000	0.71417	0.930000	0.37139	0.995000	0.86356	3.569000	0.53827	2.655000	0.90218	0.462000	0.41574	CGT		0.428	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		16	294	0	0	0	1	0	16	294				
DNAAF1	123872	broad.mit.edu	37	16	84203706	84203706	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:84203706G>A	ENST00000378553.5	+	8	1396	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	424	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCGTCACCTGTGG	0.622																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1270-1272)tcG>tcA		dynein, axonemal, assembly factor 1							61.0	64.0	63.0					16																	84203706		2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203706G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1272G>A	16.37:g.84203706G>A			Somatic				DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	p.S424S	NM_178452.4	NP_848547.4	WXS	Illumina GAIIx	Phase_I	Q8NEP3	DAAF1_HUMAN			8	1396	+			424			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.1272G>A	CCDS10943.2																																																																																				0.622	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		28	46	0	0	0	1	0	28	46				
NTMT1	28989	broad.mit.edu	37	9	132396435	132396435	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:132396435A>G	ENST00000372486.1	+	3	614	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	NTMT1_ENST00000372483.4_Missense_Mutation_p.M89V|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.M89V|NTMT1_ENST00000482347.1_Start_Codon_SNP_p.M1V|NTMT1_ENST00000372481.3_Missense_Mutation_p.M89V			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	89					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGAGGTGGATATGGTCGACAT	0.582																																						ENST00000372486.1																			0											c.(265-267)Atg>Gtg		N-terminal Xaa-Pro-Lys N-methyltransferase 1							108.0	104.0	105.0					9																	132396435		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132396435A>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.265A>G	9.37:g.132396435A>G	ENSP00000361564:p.Met89Val		Somatic				NTMT1_ENST00000372483.4_Missense_Mutation_p.M89V|NTMT1_ENST00000372481.3_Missense_Mutation_p.M89V|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.M89V|NTMT1_ENST00000482347.1_Start_Codon_SNP_p.M1V	p.M89V			WXS	Illumina GAIIx	Phase_I					3	614	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.265A>G	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861616	0.32884	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	4.69	4.69	0.59074	.	0.050011	0.85682	D	0.000000	T	0.14442	0.0349	L	0.37800	1.135	0.50467	D	0.999878	P;B	0.40875	0.731;0.346	B;B	0.31751	0.135;0.133	T	0.07501	-1.0769	10	0.25751	T	0.34	-33.5487	13.1259	0.59354	1.0:0.0:0.0:0.0	.	89;89	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	V	89	ENSP00000361564:M89V;ENSP00000361561:M89V;ENSP00000361559:M89V;ENSP00000361558:M89V	ENSP00000361558:M89V	M	+	1	0	METTL11A	131436256	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.262000	0.51538	1.958000	0.56883	0.459000	0.35465	ATG		0.582	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		6	78	0	0	0	1	0	6	78				
MNAT1	4331	broad.mit.edu	37	14	61262989	61262989	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:61262989G>T	ENST00000261245.4	+	2	245	c.144G>T	c.(142-144)gaG>gaT	p.E48D	MNAT1_ENST00000539616.2_Missense_Mutation_p.E48D	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	48					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ACTGCCCTGAGTGTGGTACTC	0.403								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000261245.4																			0				NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(142-144)gaG>gaT	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	MNAT CDK-activating kinase assembly factor 1							118.0	108.0	111.0					14																	61262989		2203	4300	6503	SO:0001583	missense	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61262989G>T	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.144G>T	14.37:g.61262989G>T	ENSP00000261245:p.Glu48Asp		Somatic				MNAT1_ENST00000539616.2_Missense_Mutation_p.E48D	p.E48D	NM_002431.3	NP_002422.1	WXS	Illumina GAIIx	Phase_I	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	2	245	+			48					G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	c.144G>T	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958762	0.53400	.	.	ENSG00000020426	ENST00000261245;ENST00000539616	T;T	0.48201	0.82;0.85	5.63	0.569	0.17340	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.047799	0.85682	D	0.000000	T	0.42810	0.1219	M	0.80746	2.51	0.38983	D	0.95899	P;P	0.46142	0.873;0.835	B;B	0.39119	0.291;0.199	T	0.49062	-0.8978	10	0.16420	T	0.52	-2.5158	10.2058	0.43112	0.3999:0.0:0.6001:0.0	.	48;48	G3V1U8;P51948	.;MAT1_HUMAN	D	48	ENSP00000261245:E48D;ENSP00000446437:E48D	ENSP00000261245:E48D	E	+	3	2	MNAT1	60332742	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.223000	0.32527	0.116000	0.18110	0.655000	0.94253	GAG		0.403	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		7	181	1	0	0.00198382	1	0.00207121	7	181				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																653390							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	79	0	0	0	1	0	4	79				
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic						NM_001624.2	NP_001615.1	WXS	Illumina GAIIx	Phase_I	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	4	123	0	0	0	1	0	4	123				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic				BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	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	9	99	0	0	0	1	0	9	99				
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic				TOPORS_ENST00000379858.1_Silent_p.T814T	p.T879T	NM_005802.4	NP_005793.2	WXS	Illumina GAIIx	Phase_I	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		11	379	0	0	0	1	0	11	379				
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(103-105)tAt>tTt		olfactory receptor, family 4, subfamily K, member 5							193.0	201.0	198.0					14																	20388869		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388869A>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.104A>T	14.37:g.20388869A>T	ENSP00000319511:p.Tyr35Phe		Somatic					p.Y35F	NM_001005483.1	NP_001005483.1	WXS	Illumina GAIIx	Phase_I	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	129	+	all_cancers(95;0.00108)		35					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.104A>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.361696	0.24684	.	.	ENSG00000176281	ENST00000315915	T	0.04406	3.63	4.41	4.41	0.53225	.	0.000000	0.45867	D	0.000337	T	0.10423	0.0255	M	0.77103	2.36	0.31688	N	0.642233	P	0.37423	0.594	B	0.40285	0.325	T	0.02059	-1.1221	10	0.66056	D	0.02	.	11.614	0.51078	1.0:0.0:0.0:0.0	.	35	Q8NGD3	OR4K5_HUMAN	F	35	ENSP00000319511:Y35F	ENSP00000319511:Y35F	Y	+	2	0	OR4K5	19458709	0.996000	0.38824	0.119000	0.21687	0.287000	0.27160	3.354000	0.52254	1.838000	0.53458	0.533000	0.62120	TAT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		17	650	0	0	0	1	0	17	650				
RALA	5898	broad.mit.edu	37	7	39729979	39729979	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:39729979A>T	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TATCTTTTCTAGTTTGTGGAG	0.358																																						ENST00000005257.2																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						c.e3-1		v-ral simian leukemia viral oncogene homolog A (ras related)							54.0	59.0	57.0					7																	39729979		2203	4300	6503	SO:0001630	splice_region_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39729979A>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.115-1A>T	7.37:g.39729979A>T			Somatic				RALA_ENST00000468201.1_Intron		NM_005402.3	NP_005393.2	WXS	Illumina GAIIx	Phase_I	P11233	RALA_HUMAN			3	494	+								A4D1W3	Splice_Site	SNP	ENST00000005257.2	37		CCDS5460.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013888	0.75161	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6906	0.69083	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALA	39696504	1.000000	0.71417	0.934000	0.37439	0.945000	0.59286	9.087000	0.94110	2.059000	0.61396	0.379000	0.24179	.		0.358	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	Intron	6	104	0	0	0	1	0	6	104				
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T	rs375127172		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(562-564)Aca>Tca		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						120.0	116.0	118.0					2																	223782769		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223782769A>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.562A>T	2.37:g.223782769A>T	ENSP00000350012:p.Thr188Ser		Somatic				ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	p.T188S	NM_004457.3	NP_004448.2	WXS	Illumina GAIIx	Phase_I	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	6	1093	+		Renal(207;0.0183)	188					Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.562A>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846478	0.91277	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.43294	0.95;0.95;0.95	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.097447	0.64402	D	0.000001	T	0.58963	0.2159	L	0.61036	1.89	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.54642	-0.8263	10	0.25106	T	0.35	-17.5461	15.2561	0.73585	1.0:0.0:0.0:0.0	.	188	O95573	ACSL3_HUMAN	S	188;188;36	ENSP00000350012:T188S;ENSP00000375918:T188S;ENSP00000441643:T36S	ENSP00000350012:T188S	T	+	1	0	ACSL3	223491013	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.757000	0.91657	2.185000	0.69588	0.533000	0.62120	ACA		0.348	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		4	84	0	0	0	1	0	4	84				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				PKD2_ENST00000508588.1_Intron	p.Y486F	NM_000297.3	NP_000288.1	WXS	Illumina GAIIx	Phase_I	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	308	0	0	0	1	0	6	308				
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:73739891G>A	ENST00000200181.3	+	26	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_ENST00000579662.1_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000450894.3_Silent_p.G1020G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1020	Calx-beta.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3058-3060)ggG>ggA		integrin, beta 4							45.0	35.0	38.0					17																	73739891		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73739891G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3060G>A	17.37:g.73739891G>A			Somatic				ITGB4_ENST00000450894.3_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000579662.1_Silent_p.G1020G	p.G1020G	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	3247	+	all_cancers(13;1.5e-07)		1020			Calx-beta.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.3060G>A	CCDS11727.1																																																																																				0.701	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	3	0	0	0	1	0	5	3				
USP36	57602	broad.mit.edu	37	17	76799622	76799622	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:76799622G>A	ENST00000542802.3	-	16	3098	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	USP36_ENST00000449938.2_Silent_p.V490V|USP36_ENST00000312010.6_Silent_p.V885V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	885					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCTGCCGTCTGACAGCGGGCA	0.657																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2653-2655)gtC>gtT		ubiquitin specific peptidase 36							101.0	84.0	90.0					17																	76799622		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799622G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2655C>T	17.37:g.76799622G>A			Somatic				USP36_ENST00000542802.2_Silent_p.V885V|USP36_ENST00000449938.2_Silent_p.V490V	p.V885V	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2979	-			885					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.2655C>T	CCDS32755.1																																																																																				0.657	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		5	48	0	0	0	1	0	5	48				
CCDC58	131076	broad.mit.edu	37	3	122087171	122087171	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:122087171T>A	ENST00000291458.5	-	3	184		c.e3-2		CCDC58_ENST00000466854.1_5'Flank|CCDC58_ENST00000479899.1_Splice_Site|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58							mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		TGCCATCAACTAAAAGAACAA	0.328																																						ENST00000291458.5																			0				large_intestine(1)|lung(1)	2						c.e3-2		coiled-coil domain containing 58							32.0	32.0	32.0					3																	122087171		2195	4294	6489	SO:0001630	splice_region_variant	131076							g.chr3:122087171T>A	AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.178-2A>T	3.37:g.122087171T>A			Somatic				CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Splice_Site		NM_001017928.2	NP_001017928.1	WXS	Illumina GAIIx	Phase_I	Q4VC31	CCD58_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	3	184	-								Q32LY6	Splice_Site	SNP	ENST00000291458.5	37		CCDS33838.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114675	0.37339	.	.	ENSG00000160124	ENST00000291458;ENST00000479899;ENST00000479414	.	.	.	5.32	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7687	0.34719	0.0:0.1671:0.0:0.8329	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC58	123569861	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	7.068000	0.76748	0.135000	0.18707	-1.162000	0.01777	.		0.328	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	NM_001017928	Intron	5	77	0	0	0	1	0	5	77				
SLC9C2	284525	broad.mit.edu	37	1	173523955	173523955	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:173523955T>A	ENST00000367714.3	-	11	1638		c.e11-2		SLC9C2_ENST00000536496.1_Splice_Site|SLC9C2_ENST00000466087.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAGTATAAACTAAAAACAAAG	0.294																																						ENST00000367714.3																			0											c.e11-2		solute carrier family 9, member C2 (putative)							87.0	92.0	90.0					1																	173523955		2202	4295	6497	SO:0001630	splice_region_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173523955T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1216-2A>T	1.37:g.173523955T>A			Somatic				SLC9C2_ENST00000536496.1_Splice_Site|SLC9C2_ENST00000466087.1_Intron		NM_178527.3	NP_848622.2	WXS	Illumina GAIIx	Phase_I	Q5TAH2	S9A11_HUMAN			11	1638	-								Q86UF3	Splice_Site	SNP	ENST00000367714.3	37		CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	9.782	1.175645	0.21704	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3801	0.55301	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9A11	171790578	1.000000	0.71417	0.966000	0.40874	0.062000	0.15995	3.446000	0.52928	2.172000	0.68678	0.533000	0.62120	.		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	Intron	7	195	0	0	0	1	0	7	195				
TTC16	158248	broad.mit.edu	37	9	130488637	130488637	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:130488637G>A	ENST00000373289.3	+	10	1459	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	PTRH1_ENST00000419060.1_5'Flank|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	460										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TTTGGGGCCCGCCAGGATGTG	0.607																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1378-1380)cGc>cAc		tetratricopeptide repeat domain 16							44.0	50.0	48.0					9																	130488637		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130488637G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1379G>A	9.37:g.130488637G>A	ENSP00000362386:p.Arg460His		Somatic				TTC16_ENST00000489226.1_3'UTR	p.R460H	NM_144965.1	NP_659402.1	WXS	Illumina GAIIx	Phase_I	Q8NEE8	TTC16_HUMAN			10	1459	+			460					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1379G>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014774	0.35511	.	.	ENSG00000167094	ENST00000373289;ENST00000373288;ENST00000316259	T	0.63417	-0.04	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.52532	D	0.000062	T	0.57344	0.2047	M	0.63843	1.955	0.80722	D	1	B;B	0.26445	0.149;0.149	B;B	0.17433	0.018;0.018	T	0.58831	-0.7567	10	0.54805	T	0.06	-24.591	11.1863	0.48657	0.0849:0.0:0.9151:0.0	.	447;460	B4DZ42;Q8NEE8	.;TTC16_HUMAN	H	460;238;357	ENSP00000362386:R460H	ENSP00000319048:R357H	R	+	2	0	TTC16	129528458	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.080000	0.50112	2.502000	0.84385	0.400000	0.26472	CGC		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		2	5	0	0	0	1	0	2	5				
TTF1	7270	broad.mit.edu	37	9	135278059	135278059	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:135278059A>T	ENST00000334270.2	-	2	189	c.150T>A	c.(148-150)acT>acA	p.T50T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	50	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTCCTCCTAGTTATTTGAG	0.378																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(148-150)acT>acA		transcription termination factor, RNA polymerase I							80.0	82.0	81.0					9																	135278059		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135278059A>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.150T>A	9.37:g.135278059A>T			Somatic					p.T50T	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	189	-		Myeloproliferative disorder(178;0.204)	50			N-terminal region (NRD) (By similarity).		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.150T>A	CCDS6948.1																																																																																				0.378	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		5	187	0	0	0	1	0	5	187				
SART3	9733	broad.mit.edu	37	12	108942992	108942992	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:108942992T>A	ENST00000228284.3	-	2	547		c.e2-2		SART3_ENST00000552221.1_Splice_Site|SART3_ENST00000431469.2_Splice_Site	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3						cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GATAGACAACTAACAGGAAAA	0.428									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.e2-2		squamous cell carcinoma antigen recognized by T cells 3							78.0	68.0	72.0					12																	108942992		2203	4300	6503	SO:0001630	splice_region_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108942992T>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.313-2A>T	12.37:g.108942992T>A			Somatic				SART3_ENST00000431469.2_Splice_Site|SART3_ENST00000552221.1_Splice_Site		NM_014706.3	NP_055521.1	WXS	Illumina GAIIx	Phase_I	Q15020	SART3_HUMAN			2	547	-								A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Splice_Site	SNP	ENST00000228284.3	37		CCDS9117.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726465	0.69074	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5337	0.75986	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SART3	107467122	1.000000	0.71417	0.994000	0.49952	0.780000	0.44128	7.736000	0.84948	2.082000	0.62665	0.533000	0.62120	.		0.428	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		Intron	5	115	0	0	0	1	0	5	115				
ARHGAP35	2909	broad.mit.edu	37	19	47422422	47422422	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:47422422A>T	ENST00000404338.3	+	1	490	c.490A>T	c.(490-492)Att>Ttt	p.I164F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	164					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TCTTCTTGGTATTGATGTTAG	0.448																																						ENST00000404338.3																			0											c.(490-492)Att>Ttt		Rho GTPase activating protein 35							106.0	97.0	100.0					19																	47422422		1921	4142	6063	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422422A>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.490A>T	19.37:g.47422422A>T	ENSP00000385720:p.Ile164Phe		Somatic					p.I164F	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	490	+			164					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.490A>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	1.107	-0.659292	0.03454	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.79554	-1.28	5.9	3.8	0.43715	.	0.160734	0.53938	D	0.000045	T	0.62514	0.2434	N	0.20986	0.625	0.46725	D	0.999175	B	0.19706	0.038	B	0.17098	0.017	T	0.53711	-0.8400	10	0.05436	T	0.98	-19.1425	9.3527	0.38149	0.8511:0.0:0.1489:0.0	.	164	Q9NRY4-2	.	F	164	ENSP00000385720:I164F	ENSP00000324820:I164F	I	+	1	0	ARHGAP35	52114262	0.975000	0.34042	0.892000	0.35008	0.719000	0.41307	2.054000	0.41335	1.030000	0.39839	0.533000	0.62120	ATT		0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		5	136	0	0	0	1	0	5	136				
CDHR1	92211	broad.mit.edu	37	10	85974275	85974275	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:85974275G>A	ENST00000372117.3	+	17	2581	c.2478G>A	c.(2476-2478)ccG>ccA	p.P826P	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Silent_p.P530P	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	826	Pro-rich.				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)	p.P826P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCAACCCCCGCCAAAACCCA	0.582																																						ENST00000372117.3																			1	Substitution - coding silent(1)	p.P826P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2476-2478)ccG>ccA		cadherin-related family member 1							69.0	82.0	78.0					10																	85974275		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974275G>A	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.2478G>A	10.37:g.85974275G>A			Somatic				CDHR1_ENST00000440770.2_Silent_p.P530P|CDHR1_ENST00000332904.3_Intron	p.P826P	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			17	2581	+			826			Pro-rich.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.2478G>A	CCDS7372.1																																																																																				0.582	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		4	85	0	0	0	1	0	4	85				
MAGEA10	4109	broad.mit.edu	37	X	151303884	151303884	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:151303884G>C	ENST00000370323.4	-	4	525	c.209C>G	c.(208-210)aCc>aGc	p.T70S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.T70S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	70						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTGGGGTGCTTGGTAT	0.532																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(208-210)aCc>aGc		melanoma antigen family A, 10							97.0	101.0	99.0					X																	151303884		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303884G>C		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.209C>G	X.37:g.151303884G>C	ENSP00000359347:p.Thr70Ser		Somatic				MAGEA10_ENST00000244096.3_Missense_Mutation_p.T70S|RP11-1007I13.4_ENST00000509345.2_RNA	p.T70S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	WXS	Illumina GAIIx	Phase_I	P43363	MAGAA_HUMAN			4	525	-	Acute lymphoblastic leukemia(192;6.56e-05)		70						Missense_Mutation	SNP	ENST00000370323.4	37	c.209C>G	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560203	0.13498	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	2.08	-0.116	0.13555	Melanoma associated antigen, MAGE, N-terminal (1);	1.599500	0.03911	N	0.281938	T	0.07773	0.0195	L	0.54908	1.71	0.09310	N	1	P	0.42123	0.771	B	0.41135	0.348	T	0.35025	-0.9805	10	0.18710	T	0.47	.	3.9992	0.09572	0.0:0.2578:0.4772:0.265	.	70	P43363	MAGAA_HUMAN	S	70	ENSP00000359347:T70S;ENSP00000244096:T70S;ENSP00000406161:T70S;ENSP00000391977:T70S	ENSP00000244096:T70S	T	-	2	0	MAGEA10	151054540	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	-0.317000	0.08060	-0.096000	0.12329	0.287000	0.19450	ACC		0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		15	141	0	0	0	1	0	15	141				
TCHHL1	126637	broad.mit.edu	37	1	152058043	152058043	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:152058043A>T	ENST00000368806.1	-	3	2179	c.2115T>A	c.(2113-2115)agT>agA	p.S705R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	705							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)			CTTCTTTGCTACTTGGGCCTT	0.458																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2113-2115)agT>agA		trichohyalin-like 1							182.0	183.0	183.0					1																	152058043		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058043A>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.2115T>A	1.37:g.152058043A>T	ENSP00000357796:p.Ser705Arg		Somatic					p.S705R	NM_001008536.1	NP_001008536.1	WXS	Illumina GAIIx	Phase_I	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2179	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		705					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2115T>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.241291	0.22711	.	.	ENSG00000182898	ENST00000368806	T	0.25414	1.8	4.76	-7.03	0.01584	.	0.775494	0.10871	N	0.624973	T	0.04679	0.0127	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37911	-0.9685	10	0.21540	T	0.41	2.375	1.3434	0.02159	0.1736:0.3804:0.1902:0.2558	.	705	Q5QJ38	TCHL1_HUMAN	R	705	ENSP00000357796:S705R	ENSP00000357796:S705R	S	-	3	2	TCHHL1	150324667	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.092000	0.03366	-0.798000	0.04444	-0.274000	0.10170	AGT		0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	552	0	0	0	1	0	10	552				
PLA2G4C	8605	broad.mit.edu	37	19	48607854	48607854	+	Missense_Mutation	SNP	C	C	A	rs374191136		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:48607854C>A	ENST00000599921.1	-	4	605	c.248G>T	c.(247-249)gGa>gTa	p.G83V	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G93V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G83V|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G83V			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	83	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCAAGTGGATCCAGAGACCCC	0.498																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(247-249)gGa>gTa		phospholipase A2, group IVC (cytosolic, calcium-independent)		C	VAL/GLY,VAL/GLY,VAL/GLY	0,4406		0,0,2203	134.0	118.0	123.0		278,248,248	3.4	0.1	19		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	109,109,109	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	93/552,83/528,83/542	48607854	1,13005	2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48607854C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.248G>T	19.37:g.48607854C>A	ENSP00000469473:p.Gly83Val		Somatic				PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G83V|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G83V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G93V	p.G83V	NM_001159323.1	NP_001152795.1	WXS	Illumina GAIIx	Phase_I	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	4	575	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	83			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.248G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322136	0.23994	0.0	1.16E-4	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.51325	0.71;0.71	3.37	3.37	0.38596	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.71796	0.3382	M	0.91354	3.2	0.28277	N	0.924147	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67929	-0.5543	10	0.87932	D	0	-10.7575	10.6005	0.45365	0.0:1.0:0.0:0.0	.	93;83;83	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	V	83	ENSP00000346228:G83V;ENSP00000400036:G83V	ENSP00000346228:G83V	G	-	2	0	PLA2G4C	53299666	0.946000	0.32159	0.097000	0.21041	0.144000	0.21451	3.594000	0.54008	1.590000	0.49995	0.404000	0.27445	GGA		0.498	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			41	294	1	0	1.42923e-14	1	1.59027e-14	41	294				
FOS	2353	broad.mit.edu	37	14	75746590	75746590	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:75746590C>T	ENST00000303562.4	+	2	361	c.152C>T	c.(151-153)aCg>aTg	p.T51M	FOS_ENST00000555242.1_Missense_Mutation_p.T51M|FOS_ENST00000535987.1_Missense_Mutation_p.T51M|FOS_ENST00000554617.1_Missense_Mutation_p.T51M|FOS_ENST00000555347.1_5'Flank|FOS_ENST00000555686.1_5'UTR	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	51					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	GACTTCTGCACGGACCTGGCC	0.622																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(151-153)aCg>aTg		FBJ murine osteosarcoma viral oncogene homolog							120.0	116.0	117.0					14																	75746590		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75746590C>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.152C>T	14.37:g.75746590C>T	ENSP00000306245:p.Thr51Met		Somatic				FOS_ENST00000555686.1_5'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.T51M|FOS_ENST00000555242.1_Missense_Mutation_p.T51M|FOS_ENST00000535987.1_Missense_Mutation_p.T51M	p.T51M	NM_005252.3	NP_005243.1	WXS	Illumina GAIIx	Phase_I	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	2	361	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	51					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.152C>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978237	0.74360	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000535987;ENST00000555242	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.95	5.04	0.67666	.	0.674555	0.15145	N	0.278027	T	0.54951	0.1890	M	0.76002	2.32	0.80722	D	1	P;P	0.51057	0.941;0.521	P;B	0.44673	0.457;0.103	T	0.60855	-0.7180	10	0.59425	D	0.04	0.0369	15.0884	0.72174	0.0:0.7314:0.2685:0.0	.	51;51	B4DQ65;P01100	.;FOS_HUMAN	M	51	ENSP00000306245:T51M;ENSP00000450519:T51M;ENSP00000442268:T51M;ENSP00000452386:T51M	ENSP00000306245:T51M	T	+	2	0	FOS	74816343	0.338000	0.24775	0.271000	0.24616	0.966000	0.64601	1.941000	0.40233	1.479000	0.48272	0.563000	0.77884	ACG		0.622	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		3	135	0	0	0	1	0	3	135				
PTPDC1	138639	broad.mit.edu	37	9	96857597	96857597	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:96857597A>T	ENST00000375360.3	+	6	794		c.e6-1		PTPDC1_ENST00000288976.3_Splice_Site	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTTTTCCTAGTTTACTTCT	0.358																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.e6-1		protein tyrosine phosphatase domain containing 1							115.0	119.0	118.0					9																	96857597		2203	4300	6503	SO:0001630	splice_region_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96857597A>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.455-1A>T	9.37:g.96857597A>T			Somatic				PTPDC1_ENST00000288976.3_Splice_Site		NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	A2A3K4	PTPC1_HUMAN			6	794	+								Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Splice_Site	SNP	ENST00000375360.3	37		CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280073	0.40294	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7685	0.69657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPDC1	95897418	1.000000	0.71417	0.970000	0.41538	0.219000	0.24729	8.696000	0.91302	2.221000	0.72209	0.528000	0.53228	.		0.358	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	Intron	8	216	0	0	0	1	0	8	216				
FRRS1L	23732	broad.mit.edu	37	9	111899895	111899895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:111899895C>T	ENST00000561981.2	-	5	874	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	292						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TATATCATGTCGAGTGATAGA	0.378																																						ENST00000374581.3																			0											c.(874-876)cGa>cAa		ferric-chelate reductase 1-like							100.0	105.0	104.0					9																	111899895		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111899895C>T	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.875G>A	9.37:g.111899895C>T	ENSP00000477141:p.Arg292Gln		Somatic					p.R292Q	NM_014334.2	NP_055149.2	WXS	Illumina GAIIx	Phase_I	Q9P0K9	CI004_HUMAN			5	874	-			292					Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.875G>A	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125125	0.77436	.	.	ENSG00000136805	ENST00000374581	.	.	.	5.65	5.65	0.86999	DOMON domain (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.65894	-0.6057	9	0.41790	T	0.15	-2.1694	19.7357	0.96202	0.0:1.0:0.0:0.0	.	292	Q9P0K9	CI004_HUMAN	Q	292	.	ENSP00000363709:R292Q	R	-	2	0	C9orf4	110939716	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.487000	0.81328	2.662000	0.90505	0.563000	0.77884	CGA		0.378	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		23	180	0	0	0	1	0	23	180				
DSP	1832	broad.mit.edu	37	6	7568820	7568820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:7568820C>T	ENST00000379802.3	+	11	1758	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q473*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	473	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAAACAAGATCAGGTGTGTAC	0.358																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1417-1419)Cag>Tag		desmoplakin							105.0	103.0	103.0					6																	7568820		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7568820C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1417C>T	6.37:g.7568820C>T	ENSP00000369129:p.Gln473*		Somatic				DSP_ENST00000418664.2_Nonsense_Mutation_p.Q473*	p.Q473*	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	11	1758	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	473			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.1417C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	41	8.880820	0.98988	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.9	5.9	0.94986	.	0.106336	0.42420	D	0.000702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	473;473;278	.	ENSP00000369129:Q473X	Q	+	1	0	DSP	7513819	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.999000	0.70665	2.788000	0.95919	0.650000	0.86243	CAG		0.358	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		75	68	0	0	0	1	0	75	68				
RSBN1	54665	broad.mit.edu	37	1	114340601	114340601	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:114340601A>T	ENST00000261441.5	-	2	824	c.761T>A	c.(760-762)aTa>aAa	p.I254K		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	254	Poly-Lys.					nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	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)		TTTCTTCTTTATTTTCTTCAA	0.403																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(760-762)aTa>aAa		round spermatid basic protein 1							105.0	108.0	107.0					1																	114340601		2200	4297	6497	SO:0001583	missense	54665					nucleus		g.chr1:114340601A>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.761T>A	1.37:g.114340601A>T	ENSP00000261441:p.Ile254Lys		Somatic					p.I254K	NM_018364.3	NP_060834.2	WXS	Illumina GAIIx	Phase_I	Q5VWQ0	RSBN1_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)	2	824	-	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)	254			Poly-Lys.		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.761T>A	CCDS862.1	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663224	0.67700	.	.	ENSG00000081019	ENST00000261441	.	.	.	6.17	6.17	0.99709	.	0.057047	0.64402	D	0.000001	T	0.61098	0.2320	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.62184	0.899	T	0.65030	-0.6267	9	0.66056	D	0.02	-13.2095	16.8222	0.85835	1.0:0.0:0.0:0.0	.	254	Q5VWQ0	RSBN1_HUMAN	K	254	.	ENSP00000261441:I254K	I	-	2	0	RSBN1	114142124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.371000	0.80710	0.533000	0.62120	ATA		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		5	244	0	0	0	1	0	5	244				
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e4-2		ELOVL fatty acid elongase 5							76.0	68.0	71.0					6																	53141056		2203	4300	6503	SO:0001630	splice_region_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53141056T>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.247-2A>T	6.37:g.53141056T>A			Somatic				ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NYP7	ELOV5_HUMAN			4	694	-	Lung NSC(77;0.116)							B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	ENST00000542638.1	37		CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380292	0.82682	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53249015	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.342000	0.79310	2.302000	0.77476	0.533000	0.62120	.		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	Intron	4	79	0	0	0	1	0	4	79				
FAM9A	171482	broad.mit.edu	37	X	8767075	8767075	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:8767075C>A	ENST00000543214.1	-	3	287	c.152G>T	c.(151-153)cGc>cTc	p.R51L	FAM9A_ENST00000381003.3_Missense_Mutation_p.R51L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	51						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTCCTGCTGCGCTTCCTGCC	0.557																																						ENST00000543214.1																			0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(151-153)cGc>cTc		family with sequence similarity 9, member A							95.0	68.0	77.0					X																	8767075		2203	4298	6501	SO:0001583	missense	171482					nucleolus		g.chrX:8767075C>A		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.152G>T	X.37:g.8767075C>A	ENSP00000440163:p.Arg51Leu		Somatic				FAM9A_ENST00000381003.3_Missense_Mutation_p.R51L	p.R51L	NM_001171186.1	NP_001164657.1	WXS	Illumina GAIIx	Phase_I	Q8IZU1	FAM9A_HUMAN			3	287	-		Hepatocellular(5;0.219)	51					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.152G>T	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	5.876	0.345801	0.11126	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.439	-0.879	0.10613	.	.	.	.	.	T	0.09512	0.0234	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.33295	0.161	T	0.17471	-1.0368	7	0.39692	T	0.17	.	.	.	.	.	51	Q8IZU1	FAM9A_HUMAN	L	51	.	ENSP00000370391:R51L	R	-	2	0	FAM9A	8727075	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	-0.316000	0.08071	-0.732000	0.04856	-0.748000	0.03510	CGC		0.557	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		10	40	1	0	0.000442599	1	0.000464142	10	40				
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.e3-1		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						189.0	177.0	181.0					11																	62123795		2202	4299	6501	SO:0001630	splice_region_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62123795A>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.191-1A>T	11.37:g.62123795A>T			Somatic				ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site		NM_001083926.1	NP_001077395.1	WXS	Illumina GAIIx	Phase_I	Q7L266	ASGL1_HUMAN			3	405	+								B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Splice_Site	SNP	ENST00000415229.2	37		CCDS8019.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645954	0.67358	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.108	0.65104	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASRGL1	61880371	1.000000	0.71417	0.936000	0.37596	0.795000	0.44927	7.345000	0.79337	2.210000	0.71456	0.528000	0.53228	.		0.542	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926	Intron	7	167	0	0	0	1	0	7	167				
SLC4A7	9497	broad.mit.edu	37	3	27436470	27436470	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:27436470A>T	ENST00000295736.5	-	19	2883	c.2813T>A	c.(2812-2814)aTa>aAa	p.I938K	SLC4A7_ENST00000440156.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I814K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I930K|SLC4A7_ENST00000435667.2_Missense_Mutation_p.I823K|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000454389.1_Missense_Mutation_p.I947K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I488K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	938					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTTTCTGTTTATAATTACAGC	0.338																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2812-2814)aTa>aAa		solute carrier family 4, sodium bicarbonate cotransporter, member 7							84.0	82.0	83.0					3																	27436470		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27436470A>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2813T>A	3.37:g.27436470A>T	ENSP00000295736:p.Ile938Lys		Somatic				SLC4A7_ENST00000435667.2_Missense_Mutation_p.I823K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000440156.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I814K|SLC4A7_ENST00000454389.1_Missense_Mutation_p.I947K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I930K|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I488K|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I819K	p.I938K	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			19	2883	-			938					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2813T>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.049296	0.93740	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	6.06	6.06	0.98353	Bicarbonate transporter, C-terminal (1);	0.043161	0.85682	D	0.000000	D	0.92205	0.7528	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;0.985;0.998;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.991;0.995;0.985;0.995;0.956;0.984;0.997;0.997	D	0.93820	0.7118	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	934;819;930;934;947;488;814;938;819	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	K	489;938;814;947;934;819;930;819;934;823;488;834	ENSP00000411031:I489K;ENSP00000295736:I938K;ENSP00000416368:I814K;ENSP00000390394:I947K;ENSP00000414797:I934K;ENSP00000394252:I819K;ENSP00000406605:I930K;ENSP00000407382:I819K;ENSP00000406804:I934K;ENSP00000395336:I823K;ENSP00000373429:I488K;ENSP00000388703:I834K	ENSP00000295736:I938K	I	-	2	0	SLC4A7	27411474	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	ATA		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	132	0	0	0	1	0	4	132				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A			Somatic				FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	4	81	0	0	0	1	0	4	81				
SLC47A1	55244	broad.mit.edu	37	17	19480747	19480747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:19480747C>T	ENST00000270570.4	+	17	1680	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q278*|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.Q230*|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q532*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	532					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GGAACATCCACAGGACGGCGC	0.507																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1594-1596)Cag>Tag		solute carrier family 47 (multidrug and toxin extrusion), member 1							139.0	142.0	141.0					17																	19480747		2203	4300	6503	SO:0001587	stop_gained	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19480747C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1594C>T	17.37:g.19480747C>T	ENSP00000270570:p.Gln532*		Somatic				SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.Q532*|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.Q532*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.Q230*|SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.Q278*|SLC47A1_ENST00000436810.2_3'UTR	p.Q532*	NM_018242.2	NP_060712.2	WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			17	1680	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		532					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Nonsense_Mutation	SNP	ENST00000270570.4	37	c.1594C>T	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791650	0.50102	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.16	-1.57	0.08506	.	2.717870	0.00904	N	0.002387	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-13.9312	6.2639	0.20915	0.3157:0.184:0.5003:0.0	.	.	.	.	X	532;532;532;207;244	.	ENSP00000270570:Q532X	Q	+	1	0	SLC47A1	19421339	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.652000	0.05366	-0.317000	0.08677	-0.521000	0.04368	CAG		0.507	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		33	204	0	0	0	1	0	33	204				
TRUB2	26995	broad.mit.edu	37	9	131071913	131071913	+	Silent	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131071913G>T	ENST00000372890.4	-	8	1245	c.912C>A	c.(910-912)acC>acA	p.T304T	TRUB2_ENST00000546104.1_Silent_p.T248T|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	304					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GGAGCTGCTTGGTGTCCAGCC	0.657																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(910-912)acC>acA		TruB pseudouridine (psi) synthase family member 2							40.0	43.0	42.0					9																	131071913		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071913G>T	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.912C>A	9.37:g.131071913G>T			Somatic				TRUB2_ENST00000546104.1_Silent_p.T248T	p.T304T	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1245	-			304					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.912C>A	CCDS6897.1																																																																																				0.657	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		23	62	1	0	1.50039e-11	1	1.68522e-11	23	62				
NRROS	375387	broad.mit.edu	37	3	196388145	196388145	+	Missense_Mutation	SNP	C	C	T	rs200884430		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:196388145C>T	ENST00000328557.4	+	3	1834	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	544					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTAGATCTGTCGGGGAATTGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18394	0.0		0.0	False		,,,				2504	0.001					ENST00000328557.4																			0											c.(1630-1632)tCg>tTg		negative regulator of reactive oxygen species		C	LEU/SER	0,4406		0,0,2203	105.0	107.0	107.0		1631	6.0	1.0	3		107	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LRRC33	NM_198565.1	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	544/693	196388145	2,13004	2203	4300	6503	SO:0001583	missense	375387							g.chr3:196388145C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1631C>T	3.37:g.196388145C>T	ENSP00000328625:p.Ser544Leu		Somatic					p.S544L	NM_198565.1	NP_940967.1	WXS	Illumina GAIIx	Phase_I					3	1834	+									Missense_Mutation	SNP	ENST00000328557.4	37	c.1631C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090069	0.55968	0.0	2.33E-4	ENSG00000174004	ENST00000328557	T	0.59224	0.28	5.97	5.97	0.96955	.	0.070529	0.64402	D	0.000013	T	0.81475	0.4830	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.83394	0.0019	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	544	Q86YC3	LRC33_HUMAN	L	544	ENSP00000328625:S544L	ENSP00000328625:S544L	S	+	2	0	LRRC33	197872542	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	5.557000	0.67313	2.836000	0.97738	0.655000	0.94253	TCG		0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		30	79	0	0	0	1	0	30	79				
IGHV3-15	28448	broad.mit.edu	37	14	106610826	106610826	+	RNA	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:106610826C>T	ENST00000390603.2	-	0	26									immunoglobulin heavy variable 3-15																		TTGGGAATCCCAAGGCTGGGG	0.507																																						ENST00000390603.2																			0																				30.0	24.0	26.0					14																	106610826		692	1588	2280			28448							g.chr14:106610826C>T	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610826C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	26	-									RNA	SNP	ENST00000390603.2	37																																																																																						0.507	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		35	140	0	0	0	1	0	35	140				
KLHL23	151230	broad.mit.edu	37	2	170598013	170598013	+	Silent	SNP	C	C	T	rs539851773		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:170598013C>T	ENST00000392647.2	+	3	1576	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	KLHL23_ENST00000272797.4_Silent_p.N444N|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	444										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCGATATCAACGAATGGAGCC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19350	0.0		0.0	False		,,,				2504	0.001					ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(1330-1332)aaC>aaT		kelch-like family member 23							166.0	142.0	150.0					2																	170598013		2203	4300	6503	SO:0001819	synonymous_variant	151230							g.chr2:170598013C>T	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1332C>T	2.37:g.170598013C>T			Somatic				KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Silent_p.N444N	p.N444N	NM_144711.5	NP_653312.2	WXS	Illumina GAIIx	Phase_I	Q8NBE8	KLH23_HUMAN			3	1576	+			444					Q8N9B9|Q96FT8	Silent	SNP	ENST00000392647.2	37	c.1332C>T	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145200	0.21288	.	.	ENSG00000213160	ENST00000448589	.	.	.	5.77	-4.91	0.03085	.	.	.	.	.	T	0.58264	0.2110	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63980	-0.6514	3	.	.	.	.	16.821	0.85746	0.0:0.6769:0.0:0.3231	.	.	.	.	M	4	.	.	T	+	2	0	KLHL23	170306259	0.061000	0.20836	0.983000	0.44433	0.955000	0.61496	-0.664000	0.05292	-0.768000	0.04626	0.650000	0.86243	ACG		0.428	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		4	28	0	0	0	1	0	4	28				
TTLL1	25809	broad.mit.edu	37	22	43447837	43447837	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr22:43447837G>A	ENST00000266254.7	-	9	1188	c.948C>T	c.(946-948)atC>atT	p.I316I	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Intron	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	316	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCTTGTCGTCGATGATGATGT	0.562																																						ENST00000266254.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(946-948)atC>atT		tubulin tyrosine ligase-like family, member 1							298.0	212.0	241.0					22																	43447837		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43447837G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.948C>T	22.37:g.43447837G>A			Somatic				TTLL1_ENST00000331018.7_Intron|AL022476.2_ENST00000443063.1_RNA	p.I316I	NM_012263.4	NP_036395.1	WXS	Illumina GAIIx	Phase_I	O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1188	-		Ovarian(80;0.0694)	316			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.948C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518748	0.27211	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.97	-7.05	0.01573	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41610	-0.9499	4	.	.	.	.	1.5501	0.02573	0.3533:0.0856:0.3023:0.2587	.	.	.	.	L	242	.	.	S	-	2	0	TTLL1	41777781	0.516000	0.26218	0.839000	0.33178	0.986000	0.74619	-0.135000	0.10420	-1.072000	0.03141	-0.940000	0.02684	TCG		0.562	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		10	249	0	0	0	1	0	10	249				
C14orf37	145407	broad.mit.edu	37	14	58604706	58604706	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:58604706A>T	ENST00000267485.7	-	2	1564		c.e2+1		C14orf37_ENST00000334342.5_Splice_Site	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37							integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCTTTCTTTTACCTTTCATTG	0.323																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.e2+1		chromosome 14 open reading frame 37							49.0	52.0	51.0					14																	58604706		2203	4300	6503	SO:0001630	splice_region_variant	145407					integral to membrane	binding	g.chr14:58604706A>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1369+1T>A	14.37:g.58604706A>T			Somatic				C14orf37_ENST00000334342.5_Splice_Site		NM_001001872.2	NP_001001872.2	WXS	Illumina GAIIx	Phase_I	Q86TY3	CN037_HUMAN			2	1564	-								A8K8Z8|Q6P5Q1|Q86TY1	Splice_Site	SNP	ENST00000267485.7	37		CCDS32089.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559634	0.65538	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.834	0.63398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf37	57674459	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.883000	0.63128	2.288000	0.76882	0.533000	0.62120	.		0.323	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	Intron	5	179	0	0	0	1	0	5	179				
PFKP	5214	broad.mit.edu	37	10	3143675	3143675	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr10:3143675A>G	ENST00000381125.4	+	4	459	c.383A>G	c.(382-384)gAc>gGc	p.D128G	PFKP_ENST00000421751.1_3'UTR|PFKP_ENST00000381075.2_Missense_Mutation_p.D120G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	128	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATCGGCGGGGACGGGAGCCTC	0.672																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(358-360)gAc>gGc		phosphofructokinase, platelet							24.0	26.0	26.0					10																	3143675		2202	4300	6502	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3143675A>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.383A>G	10.37:g.3143675A>G	ENSP00000370517:p.Asp128Gly		Somatic				PFKP_ENST00000381125.4_Missense_Mutation_p.D128G	p.D120G	NM_001242339.1	NP_001229268.1	WXS	Illumina GAIIx	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	6	583	+			128					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.359A>G	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640678	0.67244	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000421751;ENST00000407806	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	4.64	4.64	0.57946	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	H	0.94847	3.59	0.80722	D	1	D;P	0.60575	0.988;0.518	P;P	0.61201	0.885;0.496	D	0.95236	0.8347	10	0.87932	D	0	.	14.3782	0.66892	1.0:0.0:0.0:0.0	.	120;128	Q5VSR7;Q01813	.;K6PP_HUMAN	G	128;117;120;90;90	ENSP00000370517:D128G;ENSP00000370465:D120G;ENSP00000410590:D90G;ENSP00000385880:D90G	ENSP00000370465:D120G	D	+	2	0	PFKP	3133675	1.000000	0.71417	0.956000	0.39512	0.123000	0.20343	8.999000	0.93557	1.861000	0.53984	0.528000	0.53228	GAC		0.672	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		4	3	0	0	0	1	0	4	3				
NAA15	80155	broad.mit.edu	37	4	140281033	140281033	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:140281033G>T	ENST00000296543.5	+	12	1717	c.1394G>T	c.(1393-1395)tGc>tTc	p.C465F	NAA15_ENST00000398947.1_Missense_Mutation_p.C465F	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	465					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAAATGTGCTCAAAGTTT	0.368																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1393-1395)tGc>tTc		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							73.0	69.0	70.0					4																	140281033		1892	4135	6027	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140281033G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1394G>T	4.37:g.140281033G>T	ENSP00000296543:p.Cys465Phe		Somatic				NAA15_ENST00000398947.1_Missense_Mutation_p.C465F	p.C465F	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ9	NAA15_HUMAN			12	1717	+			465					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.1394G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613986	0.87359	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.46451	0.87;0.87	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	L	0.53617	1.68	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.50725	-0.8794	10	0.27082	T	0.32	-5.249	20.1951	0.98241	0.0:0.0:1.0:0.0	.	465	Q9BXJ9	NAA15_HUMAN	F	465;339;465	ENSP00000296543:C465F;ENSP00000381920:C465F	ENSP00000296543:C465F	C	+	2	0	NAA15	140500483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.345000	0.97053	2.780000	0.95670	0.585000	0.79938	TGC		0.368	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		36	44	1	0	1.60099e-16	1	1.85189e-16	36	44				
OVGP1	5016	broad.mit.edu	37	1	111968039	111968039	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:111968039G>A	ENST00000369732.3	-	4	338	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Silent_p.L35L	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	95					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCGATGGACAGTAGTGTTTTC	0.517																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(283-285)Ctg>Ttg		oviductal glycoprotein 1, 120kDa							137.0	109.0	119.0					1																	111968039		2203	4300	6503	SO:0001819	synonymous_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111968039G>A	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.283C>T	1.37:g.111968039G>A			Somatic				OVGP1_ENST00000540696.1_Silent_p.L35L	p.L95L	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	4	338	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	95					A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	c.283C>T	CCDS834.1																																																																																				0.517	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		11	58	0	0	0	1	0	11	58				
G6PC3	92579	broad.mit.edu	37	17	42152400	42152400	+	Silent	SNP	G	G	A	rs145419406		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:42152400G>A	ENST00000269097.4	+	4	711	c.480G>A	c.(478-480)tcG>tcA	p.S160S		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	160					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGGCTTGTCGCGAATCTTCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18752	0.001		0.0	False		,,,				2504	0.0					ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(478-480)tcG>tcA		glucose 6 phosphatase, catalytic, 3		G		1,4405	2.1+/-5.4	0,1,2202	234.0	219.0	224.0		480	-5.2	0.9	17	dbSNP_134	224	0,8600		0,0,4300	no	coding-synonymous	G6PC3	NM_138387.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		160/347	42152400	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152400G>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.480G>A	17.37:g.42152400G>A			Somatic					p.S160S	NM_138387.3	NP_612396.1	WXS	Illumina GAIIx	Phase_I	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	711	+		Breast(137;0.00637)|Prostate(33;0.0313)	160					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.480G>A	CCDS11476.1																																																																																				0.557	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		20	127	0	0	0	1	0	20	127				
DICER1	23405	broad.mit.edu	37	14	95572562	95572562	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:95572562T>A	ENST00000526495.1	-	20	3096		c.e20-2		DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000527414.1_Splice_Site			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGCGATATCTAAAAAAGAAA	0.308			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.e20-2		dicer 1, ribonuclease type III							40.0	43.0	42.0					14																	95572562		2201	4299	6500	SO:0001630	splice_region_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95572562T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2805-2A>T	14.37:g.95572562T>A			Somatic				DICER1_ENST00000541352.1_Splice_Site|DICER1_ENST00000393063.1_Splice_Site|DICER1_ENST00000343455.3_Splice_Site|DICER1_ENST00000527414.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	20	3096	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)						A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Splice_Site	SNP	ENST00000526495.1	37		CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680624	0.68042	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.696	0.77499	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DICER1	94642315	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	8.008000	0.88588	2.104000	0.64026	0.533000	0.62120	.		0.308	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Intron	4	85	0	0	0	1	0	4	85				
ATRX	546	broad.mit.edu	37	X	76938444	76938444	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:76938444C>G	ENST00000373344.5	-	9	2518	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K730N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	768					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCGCCTGAGTCTTTAAATCAT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2302-2304)aaG>aaC		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						124.0	127.0	126.0					X																	76938444		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938444C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2304G>C	X.37:g.76938444C>G	ENSP00000362441:p.Lys768Asn		Somatic				ATRX_ENST00000395603.3_Missense_Mutation_p.K730N|ATRX_ENST00000480283.1_5'UTR	p.K768N	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			9	2518	-			768					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2304G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	1.027	-0.682894	0.03353	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.16;-3.19	5.95	1.12	0.20585	.	0.247189	0.39544	N	0.001326	D	0.92041	0.7478	L	0.48642	1.525	0.21064	N	0.999798	P;D;B;P	0.57257	0.747;0.979;0.001;0.747	B;P;B;B	0.56700	0.327;0.804;0.004;0.327	D	0.85036	0.0920	10	0.72032	D	0.01	-1.3748	5.2697	0.15618	0.0:0.4789:0.1317:0.3894	.	768;700;730;768	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	768;730;695	ENSP00000362441:K768N;ENSP00000378967:K730N	ENSP00000362441:K768N	K	-	3	2	ATRX	76825100	0.314000	0.24563	0.047000	0.18901	0.323000	0.28346	0.741000	0.26202	-0.225000	0.09913	0.513000	0.50165	AAG		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	156	0	0	0	1	0	17	156				
SNRNP25	79622	broad.mit.edu	37	16	106598	106598	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:106598G>T	ENST00000383018.3	+	4	487	c.326G>T	c.(325-327)aGa>aTa	p.R109I	POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	109	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						ACGGAAGACAGAAAGAAGCTC	0.597																																						ENST00000383018.3																			0				large_intestine(1)|lung(2)	3						c.(325-327)aGa>aTa		small nuclear ribonucleoprotein 25kDa (U11/U12)							110.0	102.0	105.0					16																	106598		2203	4300	6503	SO:0001583	missense	79622				mRNA processing	U12-type spliceosomal complex		g.chr16:106598G>T	BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.326G>T	16.37:g.106598G>T	ENSP00000372482:p.Arg109Ile		Somatic					p.R109I	NM_024571.3	NP_078847.1	WXS	Illumina GAIIx	Phase_I	Q9BV90	SNR25_HUMAN			4	487	+			109			Ubiquitin-like.		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	ENST00000383018.3	37	c.326G>T	CCDS10396.1	.	.	.	.	.	.	.	.	.	.	.	7.298	0.612481	0.14066	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	T;T;T	0.11821	2.74;2.74;2.74	5.62	1.46	0.22682	Ubiquitin supergroup (1);	0.577170	0.19162	N	0.121167	T	0.11965	0.0291	L	0.50333	1.59	0.42954	D	0.994381	B	0.20671	0.047	B	0.12837	0.008	T	0.09443	-1.0674	10	0.38643	T	0.18	-0.8171	7.9746	0.30147	0.2619:0.1083:0.6299:0.0	.	109	Q9BV90	SNR25_HUMAN	I	100;109;92	ENSP00000293861:R100I;ENSP00000372482:R109I;ENSP00000391289:R92I	ENSP00000293861:R100I	R	+	2	0	SNRNP25	46598	0.396000	0.25262	0.982000	0.44146	0.536000	0.34869	-0.053000	0.11846	-0.124000	0.11724	-0.797000	0.03246	AGA		0.597	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024571		10	29	1	0	3.03607e-14	1	3.46023e-14	10	29				
TWISTNB	221830	broad.mit.edu	37	7	19744489	19744489	+	Silent	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:19744489T>A	ENST00000222567.5	-	2	379	c.309A>T	c.(307-309)ggA>ggT	p.G103G	MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	103					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CATAAATATCTCCAAGCTCTC	0.358																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(307-309)ggA>ggT		TWIST neighbor							91.0	90.0	91.0					7																	19744489		2203	4300	6503	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19744489T>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.309A>T	7.37:g.19744489T>A			Somatic					p.G103G	NM_001002926.1	NP_001002926.1	WXS	Illumina GAIIx	Phase_I	Q3B726	RPA43_HUMAN			2	379	-			103					A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.309A>T	CCDS34606.1																																																																																				0.358	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			10	188	0	0	0	1	0	10	188				
XDH	7498	broad.mit.edu	37	2	31621532	31621532	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:31621532C>T	ENST00000379416.3	-	5	388	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	114					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTGCAGAACCCGCACTGGGAG	0.552																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(340-342)Ggg>Agg		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						118.0	121.0	120.0					2																	31621532		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31621532C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.340G>A	2.37:g.31621532C>T	ENSP00000368727:p.Gly114Arg		Somatic					p.G114R	NM_000379.3	NP_000370.2	WXS	Illumina GAIIx	Phase_I	P47989	XDH_HUMAN			5	388	-	Acute lymphoblastic leukemia(172;0.155)		114					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.340G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386904	0.82902	.	.	ENSG00000158125	ENST00000379416	D	0.81499	-1.5	6.16	6.16	0.99307	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96003	0.8995	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	114	P47989	XDH_HUMAN	R	114	ENSP00000368727:G114R	ENSP00000368727:G114R	G	-	1	0	XDH	31475036	1.000000	0.71417	0.990000	0.47175	0.227000	0.25037	7.386000	0.79775	2.937000	0.99478	0.650000	0.86243	GGG		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		3	127	0	0	0	1	0	3	127				
TRUB2	26995	broad.mit.edu	37	9	131071988	131071988	+	Missense_Mutation	SNP	G	G	C	rs201948048		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131071988G>C	ENST00000372890.4	-	8	1170	c.837C>G	c.(835-837)atC>atG	p.I279M	TRUB2_ENST00000546104.1_Missense_Mutation_p.I223M|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	279					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TAGCATCCTGGATGTTGGTTA	0.622																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(835-837)atC>atG		TruB pseudouridine (psi) synthase family member 2							71.0	66.0	67.0					9																	131071988		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071988G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.837C>G	9.37:g.131071988G>C	ENSP00000361982:p.Ile279Met		Somatic				TRUB2_ENST00000546104.1_Missense_Mutation_p.I223M|TRUB2_ENST00000460320.1_5'UTR	p.I279M	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1170	-			279					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.837C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373211	0.42105	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.15017	2.46;2.46	5.68	3.51	0.40186	Pseudouridine synthase, catalytic domain (1);	0.102441	0.64402	D	0.000003	T	0.40119	0.1104	M	0.86864	2.845	0.53688	D	0.999976	D	0.89917	1.0	D	0.70935	0.971	T	0.32295	-0.9912	10	0.87932	D	0	-29.7138	5.553	0.17101	0.1286:0.1224:0.6238:0.1252	.	279	O95900	TRUB2_HUMAN	M	279;223	ENSP00000361982:I279M;ENSP00000438084:I223M	ENSP00000361982:I279M	I	-	3	3	TRUB2	130111809	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	1.553000	0.36255	1.393000	0.46605	0.561000	0.74099	ATC		0.622	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		19	54	0	0	0	1	0	19	54				
ADCY8	114	broad.mit.edu	37	8	131812706	131812706	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr8:131812706C>A	ENST00000286355.5	-	15	5118	c.3026G>T	c.(3025-3027)cGc>cTc	p.R1009L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R878L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1009					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)			ATTGAGCAAGCGCAGGCATTC	0.443										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.(3025-3027)cGc>cTc		adenylate cyclase 8 (brain)							184.0	165.0	172.0					8																	131812706		2203	4300	6503	SO:0001583	missense	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.chr8:131812706C>A	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.3026G>T	8.37:g.131812706C>A	ENSP00000286355:p.Arg1009Leu	HNSCC(32;0.087)	Somatic				ADCY8_ENST00000377928.3_Missense_Mutation_p.R878L	p.R1009L	NM_001115.2	NP_001106.1	WXS	Illumina GAIIx	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	5118	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1009						Missense_Mutation	SNP	ENST00000286355.5	37	c.3026G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143045	0.94560	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.81908	-1.55;-1.55	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.90913	0.7144	M	0.75884	2.315	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92036	0.5637	10	0.87932	D	0	.	17.5783	0.87957	0.0:1.0:0.0:0.0	.	878;1009	E7EVL1;P40145	.;ADCY8_HUMAN	L	1009;878	ENSP00000286355:R1009L;ENSP00000367161:R878L	ENSP00000286355:R1009L	R	-	2	0	ADCY8	131881888	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.814000	0.86154	2.360000	0.80028	0.557000	0.71058	CGC		0.443	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			13	1049	1	0	0.0809354	1	0.0819933	13	1049				
EMB	133418	broad.mit.edu	37	5	49699039	49699039	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:49699039A>T	ENST00000303221.5	-	6	1065	c.850T>A	c.(850-852)Tac>Aac	p.Y284N	EMB_ENST00000514111.1_Missense_Mutation_p.Y234N|EMB_ENST00000506190.1_5'Flank|EMB_ENST00000508934.1_Missense_Mutation_p.Y230N	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	284					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTGTGTGTACTTTTCACAA	0.343																																						ENST00000303221.5																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.(850-852)Tac>Aac		embigin							31.0	34.0	33.0					5																	49699039		2201	4295	6496	SO:0001583	missense	133418					integral to membrane		g.chr5:49699039A>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.850T>A	5.37:g.49699039A>T	ENSP00000302289:p.Tyr284Asn		Somatic				EMB_ENST00000514111.1_Missense_Mutation_p.Y234N|EMB_ENST00000508934.1_Missense_Mutation_p.Y230N	p.Y284N	NM_198449.2	NP_940851.1	WXS	Illumina GAIIx	Phase_I	Q6PCB8	EMB_HUMAN			6	1065	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	284					B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.850T>A	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.466505	0.43839	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.44881	0.91;0.96;0.95	4.92	2.51	0.30379	.	0.504142	0.23206	N	0.050735	T	0.37073	0.0990	L	0.55481	1.735	0.38463	D	0.947278	D;D	0.56521	0.976;0.96	P;P	0.47470	0.524;0.548	T	0.30090	-0.9990	9	.	.	.	-7.3069	3.1608	0.06520	0.6335:0.0:0.191:0.1754	.	230;284	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	284;256;230;234	ENSP00000302289:Y284N;ENSP00000425215:Y230N;ENSP00000426404:Y234N	.	Y	-	1	0	EMB	49734796	0.889000	0.30405	0.979000	0.43373	0.903000	0.53119	1.691000	0.37721	0.825000	0.34637	0.454000	0.30748	TAC		0.343	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		4	117	0	0	0	1	0	4	117				
KIAA1024	23251	broad.mit.edu	37	15	79750143	79750143	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:79750143C>T	ENST00000305428.3	+	2	1729	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	552						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTCTCAGCTCCATAAGTCAGA	0.512																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1654-1656)Cat>Tat		KIAA1024							79.0	65.0	70.0					15																	79750143		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750143C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1654C>T	15.37:g.79750143C>T	ENSP00000307461:p.His552Tyr		Somatic					p.H552Y	NM_015206.2	NP_056021.1	WXS	Illumina GAIIx	Phase_I	Q9UPX6	K1024_HUMAN			2	1729	+			552					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1654C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	8.853	0.945020	0.18356	.	.	ENSG00000169330	ENST00000305428	T	0.31769	1.48	5.21	4.22	0.49857	.	0.656319	0.14964	N	0.288193	T	0.26738	0.0654	L	0.51422	1.61	0.09310	N	1	P	0.34934	0.476	B	0.24974	0.057	T	0.12451	-1.0547	9	.	.	.	.	15.1311	0.72523	0.2014:0.7986:0.0:0.0	.	552	Q9UPX6	K1024_HUMAN	Y	552	ENSP00000307461:H552Y	.	H	+	1	0	KIAA1024	77537198	0.000000	0.05858	0.053000	0.19242	0.948000	0.59901	0.989000	0.29629	2.424000	0.82194	0.467000	0.42956	CAT		0.512	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	100	0	0	0	1	0	14	100				
PRKCG	5582	broad.mit.edu	37	19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCCCCCAGACGGACGTGAGT	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(280-282)aCg>aTg		protein kinase C, gamma							73.0	68.0	69.0					19																	54387493		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54387493C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.281C>T	19.37:g.54387493C>T	ENSP00000263431:p.Thr94Met		Somatic				PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	p.T94M	NM_002739.3	NP_002730.1	WXS	Illumina GAIIx	Phase_I	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	3	563	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		94					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.281C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660522	0.67586	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	T;T;T	0.79141	-1.24;-0.57;-0.57	4.68	4.68	0.58851	.	.	.	.	.	D	0.84750	0.5541	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.61697	0.982;0.986;0.99;0.987	P;P;P;P	0.56514	0.707;0.8;0.608;0.772	D	0.87111	0.2185	9	0.72032	D	0.01	.	15.4645	0.75387	0.0:1.0:0.0:0.0	.	94;94;94;94	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	M	94;94;94;117	ENSP00000440541:T94M;ENSP00000443493:T94M;ENSP00000263431:T94M	ENSP00000263431:T94M	T	+	2	0	PRKCG	59079305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.762000	0.74950	2.332000	0.79248	0.313000	0.20887	ACG		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	202	0	0	0	1	0	4	202				
SNX27	81609	broad.mit.edu	37	1	151640946	151640946	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:151640946A>T	ENST00000458013.2	+	7	1105		c.e7-1		SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000368843.3_Splice_Site|SNX27_ENST00000368838.1_Splice_Site			Q96L92	SNX27_HUMAN	sorting nexin family member 27						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTCCTTTAGTACGTAAAT	0.373																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.e7-1		sorting nexin family member 27							109.0	108.0	109.0					1																	151640946		2203	4300	6503	SO:0001630	splice_region_variant	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151640946A>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.986-1A>T	1.37:g.151640946A>T			Somatic				SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000458013.2_Splice_Site|SNX27_ENST00000368838.1_Splice_Site		NM_030918.5	NP_112180.4	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1105	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)							Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Splice_Site	SNP	ENST00000458013.2	37			.	.	.	.	.	.	.	.	.	.	A	13.73	2.325311	0.41197	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.853	0.63508	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX27	149907570	1.000000	0.71417	0.936000	0.37596	0.305000	0.27757	8.426000	0.90273	2.145000	0.66743	0.254000	0.18369	.		0.373	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	Intron	8	181	0	0	0	1	0	8	181				
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T	rs201921514		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	42					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GGTTGCTCTTATTTCAGTGGG	0.507																																						ENST00000297581.2																			0											c.(124-126)Att>Ttt		dendrocyte expressed seven transmembrane protein							165.0	147.0	153.0					8																	105360904		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360904A>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.124A>T	8.37:g.105360904A>T	ENSP00000297581:p.Ile42Phe		Somatic				DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	p.I42F	NM_030788.3	NP_110415.1	WXS	Illumina GAIIx	Phase_I	Q9H295	TM7S4_HUMAN			2	173	+			42					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.124A>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944527	0.53079	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.32023	1.47	5.51	-0.00361	0.14025	.	0.482837	0.21524	N	0.073180	T	0.24353	0.0590	M	0.67953	2.075	0.09310	N	0.999999	P	0.50272	0.933	B	0.39706	0.307	T	0.16928	-1.0386	9	.	.	.	-3.3922	4.1896	0.10414	0.3975:0.4141:0.0728:0.1155	.	42	Q9H295	TM7S4_HUMAN	F	42	ENSP00000297581:I42F	.	I	+	1	0	TM7SF4	105430080	0.001000	0.12720	0.025000	0.17156	0.896000	0.52359	-0.063000	0.11655	-0.217000	0.10033	0.533000	0.62120	ATT		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		7	299	0	0	0	1	0	7	299				
WASF3	10810	broad.mit.edu	37	13	27254266	27254266	+	Intron	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:27254266G>A	ENST00000335327.5	+	8	894				WASF3_ENST00000361042.4_Missense_Mutation_p.G212D	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGGAAAATGGGCATTGAGTTT	0.463																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(634-636)gGc>gAc		WAS protein family, member 3							54.0	51.0	52.0					13																	27254266		876	1991	2867	SO:0001627	intron_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27254266G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.717-925G>A	13.37:g.27254266G>A			Somatic				WASF3_ENST00000335327.5_Intron	p.G212D			WXS	Illumina GAIIx	Phase_I	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	860	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	211					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.635G>A	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903486	0.17760	.	.	ENSG00000132970	ENST00000361042	T	0.32753	1.44	5.34	5.34	0.76211	.	.	.	.	.	T	0.22003	0.0530	.	.	.	0.25320	N	0.989121	B	0.02656	0.0	B	0.09377	0.004	T	0.08597	-1.0714	8	0.11485	T	0.65	.	19.0447	0.93015	0.0:0.0:1.0:0.0	.	212	Q86VQ2	.	D	212	ENSP00000354325:G212D	ENSP00000354325:G212D	G	+	2	0	WASF3	26152266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.938000	0.87678	2.504000	0.84457	0.650000	0.86243	GGC		0.463	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			4	104	0	0	0	1	0	4	104				
PCDHAC2	56134	broad.mit.edu	37	5	140348049	140348049	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:140348049C>T	ENST00000289269.5	+	1	2230	c.1698C>T	c.(1696-1698)aaC>aaT	p.N566N	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	566	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGCCAACGTATATGTGG	0.537																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1696-1698)aaC>aaT									111.0	100.0	104.0					5																	140348049		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348049C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1698C>T	5.37:g.140348049C>T			Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.N566N	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2230	+			566			Cadherin 5.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.1698C>T	CCDS4242.1																																																																																				0.537	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		3	73	0	0	0	1	0	3	73				
PGPEP1L	145814	broad.mit.edu	37	15	99514268	99514268	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:99514268C>T	ENST00000378919.6	-	3	346	c.141G>A	c.(139-141)ccG>ccA	p.P47P	RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000535714.1_5'UTR	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	47							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CACTTACTTGCGGCTGATGAT	0.592																																						ENST00000378919.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(139-141)ccG>ccA		pyroglutamyl-peptidase I-like							62.0	63.0	63.0					15																	99514268		2088	4226	6314	SO:0001819	synonymous_variant	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99514268C>T		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.141G>A	15.37:g.99514268C>T			Somatic				PGPEP1L_ENST00000535714.1_5'UTR|RP11-654A16.3_ENST00000559468.1_RNA	p.P47P	NM_001102612.2	NP_001096082.2	WXS	Illumina GAIIx	Phase_I	A6NFU8	PGPIL_HUMAN			3	346	-			47					H0YF86	Silent	SNP	ENST00000378919.6	37	c.141G>A	CCDS53977.1																																																																																				0.592	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		16	109	0	0	0	1	0	16	109				
RGL1	23179	broad.mit.edu	37	1	183891355	183891355	+	Splice_Site	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:183891355G>T	ENST00000360851.3	+	17	2182		c.e17-1		RGL1_ENST00000539189.1_Splice_Site|RGL1_ENST00000536277.1_Splice_Site|RGL1_ENST00000304685.4_Splice_Site			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						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						TGTCTTTGCAGTTGACGAGCC	0.512											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.e18-1		ral guanine nucleotide dissociation stimulator-like 1							68.0	62.0	64.0					1																	183891355		2203	4300	6503	SO:0001630	splice_region_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.chr1:183891355G>T	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.2005-1G>T	1.37:g.183891355G>T			Somatic	OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1987	RGL1_ENST00000536277.1_Splice_Site|RGL1_ENST00000367531.1_Splice_Site|RGL1_ENST00000539189.1_Splice_Site|RGL1_ENST00000360851.3_Splice_Site		NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			18	2570	+								Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Splice_Site	SNP	ENST00000360851.3	37			.	.	.	.	.	.	.	.	.	.	G	21.5	4.156071	0.78114	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8749	0.92331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGL1	182157978	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	9.346000	0.97056	2.614000	0.88457	0.655000	0.94253	.		0.512	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	Intron	3	82	1	0	0.014758	1	0.0150493	3	82				
MARVELD3	91862	broad.mit.edu	37	16	71668262	71668262	+	Silent	SNP	G	G	A	rs142821011	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:71668262G>A	ENST00000268485.3	+	3	806	c.762G>A	c.(760-762)aaG>aaA	p.K254K	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	254	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)				ACGGGGAGAAGGCCCAGCAAC	0.582																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(760-762)aaG>aaA		MARVEL domain containing 3		G	,	1,4395	2.1+/-5.4	0,1,2197	117.0	108.0	111.0		,762	2.4	1.0	16	dbSNP_134	111	11,8589	8.4+/-32.0	0,11,4289	no	intron,coding-synonymous	MARVELD3	NM_001017967.2,NM_052858.3	,	0,12,6486	AA,AG,GG		0.1279,0.0227,0.0923	,	,254/402	71668262	12,12984	2198	4300	6498	SO:0001819	synonymous_variant	91862					integral to membrane		g.chr16:71668262G>A	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.762G>A	16.37:g.71668262G>A			Somatic				MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR	p.K254K	NM_052858.3	NP_443090.4	WXS	Illumina GAIIx	Phase_I	Q96A59	MALD3_HUMAN			3	806	+		Ovarian(137;0.125)	254			MARVEL.		A8K820|H3BQM5|Q96MJ4	Silent	SNP	ENST00000268485.3	37	c.762G>A	CCDS10904.1																																																																																				0.582	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		5	132	0	0	0	1	0	5	132				
ABCB7	22	broad.mit.edu	37	X	74289224	74289224	+	Silent	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:74289224C>A	ENST00000373394.3	-	11	1438	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ABCB7_ENST00000253577.3_Silent_p.V478V|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Silent_p.V437V			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	477	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ATTCAAAATGCACATTATCAA	0.468																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1432-1434)gtG>gtT		ATP-binding cassette, sub-family B (MDR/TAP), member 7							111.0	99.0	103.0					X																	74289224		2203	4300	6503	SO:0001819	synonymous_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74289224C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1431G>T	X.37:g.74289224C>A			Somatic				ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Silent_p.V477V|ABCB7_ENST00000339447.4_Silent_p.V437V	p.V478V	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			11	1458	-			477			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.1434G>T																																																																																					0.468	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		13	140	1	0	0.00244969	1	0.00256556	13	140				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_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			Somatic				RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site		NM_017841.2	NP_060311.1	WXS	Illumina GAIIx	Phase_I	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	8	254	0	0	0	1	0	8	254				
TBC1D15	64786	broad.mit.edu	37	12	72307604	72307604	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:72307604A>T	ENST00000550746.1	+	13	1415		c.e13-1		TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15						positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTTCTTTTTAGGATATGTTC	0.353																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e13-1		TBC1 domain family, member 15							84.0	92.0	89.0					12																	72307604		2203	4300	6503	SO:0001630	splice_region_variant	64786						protein binding|Rab GTPase activator activity	g.chr12:72307604A>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1352-1A>T	12.37:g.72307604A>T			Somatic				TBC1D15_ENST00000548679.1_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site|TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site		NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	WXS	Illumina GAIIx	Phase_I	Q8TC07	TBC15_HUMAN			13	1415	+								B4DMT9|B9A6L6|J3KNI9|Q9HA83	Splice_Site	SNP	ENST00000550746.1	37		CCDS31858.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552667	0.65425	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6913	0.77457	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TBC1D15	70593871	1.000000	0.71417	0.992000	0.48379	0.242000	0.25591	9.257000	0.95545	2.113000	0.64589	0.528000	0.53228	.		0.353	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	Intron	6	289	0	0	0	1	0	6	289				
NCBP1	4686	broad.mit.edu	37	9	100433385	100433385	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:100433385G>A	ENST00000375147.3	+	23	2533	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	759					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAATAATCCAGCAGTACATGG	0.493																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(2275-2277)caG>caA		nuclear cap binding protein subunit 1, 80kDa							153.0	136.0	142.0					9																	100433385		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100433385G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2277G>A	9.37:g.100433385G>A			Somatic					p.Q759Q	NM_002486.4	NP_002477.1	WXS	Illumina GAIIx	Phase_I	Q09161	NCBP1_HUMAN			23	2533	+		Acute lymphoblastic leukemia(62;0.158)	759					B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.2277G>A	CCDS6728.1																																																																																				0.493	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		6	362	0	0	0	1	0	6	362				
C1orf141	400757	broad.mit.edu	37	1	67559001	67559001	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:67559001A>T	ENST00000371007.2	-	8	999	c.890T>A	c.(889-891)cTa>cAa	p.L297Q	C1orf141_ENST00000544837.1_Missense_Mutation_p.L297Q|C1orf141_ENST00000371006.1_Missense_Mutation_p.L297Q	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	297										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTTCTTCTTTAGTTTATCATC	0.343																																						ENST00000371007.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(889-891)cTa>cAa		chromosome 1 open reading frame 141							83.0	85.0	84.0					1																	67559001		2203	4299	6502	SO:0001583	missense	400757							g.chr1:67559001A>T	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.890T>A	1.37:g.67559001A>T	ENSP00000360046:p.Leu297Gln		Somatic				C1orf141_ENST00000371006.1_Missense_Mutation_p.L297Q|C1orf141_ENST00000544837.1_Missense_Mutation_p.L297Q	p.L297Q	NM_001276351.1	NP_001263280.1	WXS	Illumina GAIIx	Phase_I	Q5JVX7	CA141_HUMAN			8	999	-			297					Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	c.890T>A	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244864	0.22796	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	T;T;T	0.34072	1.38;1.38;1.38	4.73	-8.99	0.00751	.	2.791680	0.01830	N	0.034626	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.13548	-1.0505	10	0.23302	T	0.38	3.7566	0.3697	0.00377	0.2593:0.2142:0.2793:0.2471	.	297	Q5JVX7	CA141_HUMAN	Q	297	ENSP00000360046:L297Q;ENSP00000360045:L297Q;ENSP00000444018:L297Q	ENSP00000360045:L297Q	L	-	2	0	C1orf141	67331589	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.080000	0.03407	-1.766000	0.01302	-1.139000	0.01908	CTA		0.343	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		4	82	0	0	0	1	0	4	82				
PRKCB	5579	broad.mit.edu	37	16	24196461	24196461	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:24196461C>T	ENST00000321728.7	+	14	1738	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	PRKCB_ENST00000303531.7_Silent_p.S521S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ATGGGAAGTCCGTGGATTGGT	0.453																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1561-1563)tcC>tcT		protein kinase C, beta	Vitamin E(DB00163)						190.0	178.0	182.0					16																	24196461		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196461C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1563C>T	16.37:g.24196461C>T			Somatic				PRKCB_ENST00000321728.7_Silent_p.S521S	p.S521S	NM_002738.6	NP_002729.2	WXS	Illumina GAIIx	Phase_I	P05771	KPCB_HUMAN			14	1715	+			521			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1563C>T	CCDS10618.1																																																																																				0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		9	178	0	0	0	1	0	9	178				
OR6C3	254786	broad.mit.edu	37	12	55725568	55725568	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:55725568A>T	ENST00000379667.1	+	1	84	c.84A>T	c.(82-84)ttA>ttT	p.L28F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	28					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTCTTTTTATTTATCACGT	0.423																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(82-84)ttA>ttT		olfactory receptor, family 6, subfamily C, member 3							142.0	151.0	148.0					12																	55725568		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725568A>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.84A>T	12.37:g.55725568A>T	ENSP00000368989:p.Leu28Phe		Somatic					p.L28F	NM_054104.1	NP_473445.1	WXS	Illumina GAIIx	Phase_I	Q9NZP0	OR6C3_HUMAN			1	84	+			28						Missense_Mutation	SNP	ENST00000379667.1	37	c.84A>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702933	0.88924	.	.	ENSG00000205329	ENST00000379667	T	0.00012	9.3	4.82	-7.43	0.01383	.	0.000000	0.32328	N	0.006257	T	0.00073	0.0002	N	0.02420	-0.555	0.09310	N	1	D	0.57899	0.981	D	0.63793	0.918	T	0.59198	-0.7499	10	0.59425	D	0.04	.	1.9968	0.03458	0.1246:0.2875:0.305:0.2829	.	28	Q9NZP0	OR6C3_HUMAN	F	28	ENSP00000368989:L28F	ENSP00000368989:L28F	L	+	3	2	OR6C3	54011835	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-3.716000	0.00385	-1.315000	0.02297	0.378000	0.23410	TTA		0.423	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			7	301	0	0	0	1	0	7	301				
TTF2	8458	broad.mit.edu	37	1	117644000	117644000	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:117644000A>T	ENST00000369466.4	+	23	3388		c.e23-1		TTF2_ENST00000480701.1_Splice_Site	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTTGTTTTTTAGATTTGTTTG	0.299																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e23-1		transcription termination factor, RNA polymerase II							62.0	74.0	70.0					1																	117644000		2199	4299	6498	SO:0001630	splice_region_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117644000A>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3345-1A>T	1.37:g.117644000A>T			Somatic				TTF2_ENST00000480701.1_Splice_Site		NM_003594.3	NP_003585.3	WXS	Illumina GAIIx	Phase_I	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	23	3388	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)						A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Splice_Site	SNP	ENST00000369466.4	37		CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210087	0.58343	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3131	0.66429	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTF2	117445523	1.000000	0.71417	0.854000	0.33618	0.615000	0.37417	8.778000	0.91785	2.322000	0.78497	0.528000	0.53228	.		0.299	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		Intron	5	81	0	0	0	1	0	5	81				
GIGYF2	26058	broad.mit.edu	37	2	233710440	233710440	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:233710440A>T	ENST00000409547.1	+	28	3616		c.e28-1		GIGYF2_ENST00000373566.3_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTTTTGCTTTAGTAAATCTGT	0.358																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.e27-1		GRB10 interacting GYF protein 2							81.0	84.0	83.0					2																	233710440		2203	4300	6503	SO:0001630	splice_region_variant	26058				cell death		protein binding	g.chr2:233710440A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3306-1A>T	2.37:g.233710440A>T			Somatic				GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409547.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3568	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)						A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Splice_Site	SNP	ENST00000409547.1	37		CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825909	0.71143	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000426102	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9733	0.80036	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIGYF2	233418684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.650000	0.91073	2.164000	0.68074	0.533000	0.62120	.		0.358	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	Intron	4	92	0	0	0	1	0	4	92				
ITGA7	3679	broad.mit.edu	37	12	56090749	56090749	+	Silent	SNP	G	G	A	rs570999139		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:56090749G>A	ENST00000555728.1	-	13	1831	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	ITGA7_ENST00000347027.6_Silent_p.A551A|ITGA7_ENST00000394229.2_Silent_p.A557A|ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000257880.7_Silent_p.A601A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000452168.2_Silent_p.A464A|ITGA7_ENST00000394230.2_Silent_p.A561A			Q13683	ITA7_HUMAN	integrin, alpha 7	601					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGGTGCCCGAGGCCTGGTGCT	0.607																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1801-1803)gcC>gcT		integrin, alpha 7							75.0	66.0	69.0					12																	56090749		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56090749G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1803C>T	12.37:g.56090749G>A			Somatic				ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000394229.2_Silent_p.A557A|ITGA7_ENST00000555728.1_Silent_p.A601A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000452168.2_Silent_p.A464A|ITGA7_ENST00000394230.2_Silent_p.A561A|ITGA7_ENST00000347027.6_Silent_p.A551A	p.A601A			WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			13	2022	-			601					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.1803C>T																																																																																					0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		8	109	0	0	0	1	0	8	109				
B3GNT3	10331	broad.mit.edu	37	19	17922535	17922535	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:17922535C>T	ENST00000318683.6	+	3	870	c.723C>T	c.(721-723)aaC>aaT	p.N241N	B3GNT3_ENST00000595387.1_Silent_p.N241N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	241					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGATCCAAAACGTGGGCCCCA	0.567																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(721-723)aaC>aaT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							72.0	68.0	69.0					19																	17922535		2203	4300	6503	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922535C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.723C>T	19.37:g.17922535C>T			Somatic				B3GNT3_ENST00000595387.1_Silent_p.N241N	p.N241N	NM_014256.3	NP_055071.2	WXS	Illumina GAIIx	Phase_I	Q9Y2A9	B3GN3_HUMAN			3	870	+			241					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.723C>T	CCDS12364.1																																																																																				0.567	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		36	36	0	0	0	1	0	36	36				
ITIH4	3700	broad.mit.edu	37	3	52859904	52859904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:52859904G>A	ENST00000266041.4	-	6	853	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q253*|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q165*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	253					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACCCACCTGAATGGAGCCC	0.552																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(757-759)Cag>Tag		inter-alpha-trypsin inhibitor heavy chain family, member 4							95.0	87.0	90.0					3																	52859904		2203	4300	6503	SO:0001587	stop_gained	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52859904G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.757C>T	3.37:g.52859904G>A	ENSP00000266041:p.Gln253*		Somatic				ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q165*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q253*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q253*	p.Q253*	NM_002218.4	NP_002209.2	WXS	Illumina GAIIx	Phase_I	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	6	853	-			253					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Nonsense_Mutation	SNP	ENST00000266041.4	37	c.757C>T	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.836513|4.836513	0.91117|0.91117	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.64402|.	D|.	0.000008|.	.|T	.|0.73329	.|0.3573	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73020	.|-0.4114	.|4	0.72032|.	D|.	0.01|.	-18.8643|-18.8643	17.0296|17.0296	0.86457|0.86457	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	253;253;253;253;241;165|110	.|.	ENSP00000266041:Q253X|.	Q|S	-|-	1|2	0|0	ITIH4|ITIH4	52834944|52834944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.594000|0.594000	0.36715|0.36715	7.103000|7.103000	0.77014|0.77014	2.315000|2.315000	0.78130|0.78130	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.552	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		11	22	0	0	0	1	0	11	22				
SIPA1L3	23094	broad.mit.edu	37	19	38597278	38597278	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:38597278C>A	ENST00000222345.6	+	7	2640	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	711	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGGCAGCAGGTCAGTGA	0.587																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2131-2133)Cag>Aag		signal-induced proliferation-associated 1 like 3							121.0	85.0	97.0					19																	38597278		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38597278C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2131C>A	19.37:g.38597278C>A	ENSP00000222345:p.Gln711Lys		Somatic					p.Q711K	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		7	2640	+			711			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2131C>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210245	0.95069	.	.	ENSG00000105738	ENST00000222345	D	0.94376	-3.41	5.15	5.15	0.70609	Rap/ran-GAP (2);	0.062608	0.64402	D	0.000003	D	0.97717	0.9251	M	0.88512	2.96	0.58432	D	0.999999	B	0.31519	0.327	D	0.63597	0.916	D	0.97377	0.9980	10	0.72032	D	0.01	-35.7728	17.552	0.87879	0.0:1.0:0.0:0.0	.	711	O60292	SI1L3_HUMAN	K	711	ENSP00000222345:Q711K	ENSP00000222345:Q711K	Q	+	1	0	SIPA1L3	43289118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.635000	0.83286	2.692000	0.91855	0.655000	0.94253	CAG		0.587	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		11	109	1	0	0.00829132	1	0.0085677	11	109				
RSL1D1	26156	broad.mit.edu	37	16	11935588	11935588	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:11935588T>G	ENST00000571133.1	-	7	891	c.819A>C	c.(817-819)gaA>gaC	p.E273D	RSL1D1_ENST00000542106.1_Missense_Mutation_p.E53D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	273					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						TTTTGGTGGCTTCATCCCAAT	0.373																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(817-819)gaA>gaC		ribosomal L1 domain containing 1							70.0	71.0	71.0					16																	11935588		2197	4300	6497	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11935588T>G	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.819A>C	16.37:g.11935588T>G	ENSP00000460871:p.Glu273Asp		Somatic				RSL1D1_ENST00000542106.1_Missense_Mutation_p.E53D	p.E273D	NM_015659.2	NP_056474.2	WXS	Illumina GAIIx	Phase_I	O76021	RL1D1_HUMAN			7	891	-			273					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.819A>C	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166329	0.38217	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.49432	0.78	4.29	0.381	0.16228	.	0.859738	0.10239	N	0.698667	T	0.34687	0.0906	L	0.54323	1.7	0.30311	N	0.788569	P;P	0.41929	0.765;0.528	B;B	0.37198	0.243;0.243	T	0.36915	-0.9728	10	0.36615	T	0.2	-13.521	2.3988	0.04396	0.3608:0.206:0.0:0.4332	.	273;273	Q32Q62;O76021	.;RL1D1_HUMAN	D	272;273;53	ENSP00000347897:E272D	ENSP00000347897:E272D	E	-	3	2	RSL1D1	11843089	0.056000	0.20664	0.014000	0.15608	0.086000	0.17979	-0.123000	0.10611	0.256000	0.21614	0.402000	0.26972	GAA		0.373	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		56	45	0	0	0	1	0	56	45				
MEPE	56955	broad.mit.edu	37	4	88767265	88767265	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:88767265T>A	ENST00000424957.3	+	4	1318	c.1245T>A	c.(1243-1245)aaT>aaA	p.N415K	MEPE_ENST00000497649.2_Missense_Mutation_p.N391K|MEPE_ENST00000361056.3_Missense_Mutation_p.N415K|MEPE_ENST00000395102.4_Missense_Mutation_p.N446K|MEPE_ENST00000540395.1_Missense_Mutation_p.N302K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.N302K	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	415					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCATTCTAATAGGAACCAAG	0.388																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1171-1173)aaT>aaA		matrix extracellular phosphoglycoprotein							83.0	79.0	80.0					4																	88767265		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88767265T>A	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1245T>A	4.37:g.88767265T>A	ENSP00000416984:p.Asn415Lys		Somatic				MEPE_ENST00000560249.1_Missense_Mutation_p.N302K|MEPE_ENST00000395102.4_Missense_Mutation_p.N446K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.N415K|MEPE_ENST00000361056.3_Missense_Mutation_p.N415K|MEPE_ENST00000540395.1_Missense_Mutation_p.N302K	p.N391K			WXS	Illumina GAIIx	Phase_I	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	1551	+		Hepatocellular(203;0.114)	415					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.1173T>A	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	3.745	-0.052750	0.07362	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.37584	4.37;1.19;1.19;1.2;4.37	5.21	-10.4	0.00318	.	1.550000	0.03662	N	0.242783	T	0.16428	0.0395	L	0.31476	0.935	0.09310	N	1	B	0.23490	0.086	B	0.15052	0.012	T	0.12760	-1.0535	10	0.07482	T	0.82	-0.0034	4.3829	0.11302	0.2128:0.4816:0.1119:0.1937	.	415	Q9NQ76	MEPE_HUMAN	K	415;446;391;302;415	ENSP00000416984:N415K;ENSP00000378534:N446K;ENSP00000422747:N391K;ENSP00000443491:N302K;ENSP00000354341:N415K	ENSP00000354341:N415K	N	+	3	2	MEPE	88986289	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.423000	0.01030	-1.888000	0.01113	-0.290000	0.09829	AAT		0.388	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			6	235	0	0	0	1	0	6	235				
DENND4C	55667	broad.mit.edu	37	9	19296004	19296004	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:19296004A>T	ENST00000380432.2	+	2	126		c.e2-1		DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000434457.2_Splice_Site			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C						cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTACTCTTTAGGTATATGGA	0.358																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e2-1		DENN/MADD domain containing 4C							92.0	91.0	91.0					9																	19296004		1813	4076	5889	SO:0001630	splice_region_variant	55667					integral to membrane		g.chr9:19296004A>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.94-1A>T	9.37:g.19296004A>T			Somatic				DENND4C_ENST00000602925.1_Splice_Site|DENND4C_ENST00000380432.2_Splice_Site|DENND4C_ENST00000434457.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			2	126	+								A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Splice_Site	SNP	ENST00000380432.2	37			.	.	.	.	.	.	.	.	.	.	A	16.20	3.056765	0.55325	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3515	0.66705	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DENND4C	19286004	1.000000	0.71417	0.962000	0.40283	0.640000	0.38277	9.068000	0.93961	1.974000	0.57490	0.378000	0.23410	.		0.358	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	Intron	6	168	0	0	0	1	0	6	168				
CACNA1H	8912	broad.mit.edu	37	16	1248758	1248758	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:1248758G>T	ENST00000348261.5	+	6	1035	c.787G>T	c.(787-789)Gac>Tac	p.D263Y	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D263Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D263Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	263					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTGCTTCCTGGACAGTGCCTT	0.642																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(787-789)Gac>Tac		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						71.0	75.0	74.0					16																	1248758		2108	4221	6329	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1248758G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.787G>T	16.37:g.1248758G>T	ENSP00000334198:p.Asp263Tyr		Somatic				CACNA1H_ENST00000358590.4_Missense_Mutation_p.D263Y|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D263Y	p.D263Y	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			6	1035	+		Hepatocellular(780;0.00369)	263					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.787G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409690	0.62399	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98550	-4.99;-4.99	3.65	3.65	0.41850	Ion transport (1);	0.388104	0.26286	N	0.025256	D	0.98242	0.9418	L	0.51422	1.61	0.39737	D	0.971692	D;D	0.89917	1.0;1.0	D;D	0.87578	0.98;0.998	D	0.99087	1.0839	10	0.54805	T	0.06	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	263;263	O95180-2;O95180	.;CAC1H_HUMAN	Y	263	ENSP00000334198:D263Y;ENSP00000351401:D263Y	ENSP00000334198:D263Y	D	+	1	0	CACNA1H	1188759	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.195000	0.58400	2.044000	0.60594	0.543000	0.68304	GAC		0.642	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	16	1	0	0.00909568	1	0.00933663	4	16				
MYH7	4625	broad.mit.edu	37	14	23894145	23894145	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:23894145G>A	ENST00000355349.3	-	22	2674	c.2512C>T	c.(2512-2514)Ccg>Tcg	p.P838S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	838					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGCAGCGGCTTGATCTTG	0.562																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2512-2514)Ccg>Tcg		myosin, heavy chain 7, cardiac muscle, beta							93.0	92.0	92.0					14																	23894145		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894145G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2512C>T	14.37:g.23894145G>A	ENSP00000347507:p.Pro838Ser		Somatic					p.P838S	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2674	-	all_cancers(95;2.54e-05)		838					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2512C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258285	0.80246	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.92965	-3.14	4.6	3.7	0.42460	.	.	.	.	.	D	0.97303	0.9118	H	0.97516	4.02	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97971	1.0343	9	0.87932	D	0	.	12.813	0.57649	0.0794:0.0:0.9205:0.0	.	838	P12883	MYH7_HUMAN	S	838	ENSP00000347507:P838S	ENSP00000347507:P838S	P	-	1	0	MYH7	22963985	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.083000	0.94067	1.288000	0.44600	0.563000	0.77884	CCG		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	118	0	0	0	1	0	3	118				
SNCAIP	9627	broad.mit.edu	37	5	121787127	121787127	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:121787127G>A	ENST00000261368.8	+	10	2847	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G464E|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G496E|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.G909E|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G420E|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G802E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G909E	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	862					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGCCTTTTGGAGCCTTTCGA	0.463																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2725-2727)gGa>gAa		synuclein, alpha interacting protein							89.0	96.0	94.0					5																	121787127		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121787127G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2585G>A	5.37:g.121787127G>A	ENSP00000261368:p.Gly862Glu		Somatic				SNCAIP_ENST00000379533.2_Missense_Mutation_p.G909E|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G464E|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G496E|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G862E|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G420E|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G802E|SNCAIP_ENST00000503116.2_3'UTR	p.G909E			WXS	Illumina GAIIx	Phase_I	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	4154	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	862					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2726G>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385053	0.82792	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.52057	2.63;3.38;0.91;0.68;3.37;2.96;0.68;2.76	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999	T	0.69235	-0.5198	10	0.87932	D	0	-21.5163	20.3206	0.98668	0.0:0.0:1.0:0.0	.	802;490;464;802;496;496;909;862	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	E	420;802;862;909;802;496;909;464	ENSP00000441681:G420E;ENSP00000422106:G802E;ENSP00000261368:G862E;ENSP00000368848:G909E;ENSP00000368851:G802E;ENSP00000368854:G496E;ENSP00000261367:G909E;ENSP00000394392:G464E	ENSP00000261367:G909E	G	+	2	0	SNCAIP	121815026	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.061000	0.93913	2.813000	0.96785	0.561000	0.74099	GGA		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			5	186	0	0	0	1	0	5	186				
CHD2	1106	broad.mit.edu	37	15	93489267	93489267	+	Splice_Site	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:93489267G>A	ENST00000394196.4	+	12	2266		c.e12-1		CHD2_ENST00000557381.1_Splice_Site|CHD2_ENST00000536619.1_Splice_Site|CHD2_ENST00000420239.2_Splice_Site	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATATGAAATAGCTCATAGTCG	0.363																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.e12-1		chromodomain helicase DNA binding protein 2							37.0	40.0	39.0					15																	93489267		2196	4295	6491	SO:0001630	splice_region_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93489267G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1199-1G>A	15.37:g.93489267G>A			Somatic				CHD2_ENST00000536619.1_Splice_Site|CHD2_ENST00000420239.2_Splice_Site|CHD2_ENST00000557381.1_Splice_Site		NM_001271.3	NP_001262.3	WXS	Illumina GAIIx	Phase_I	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		12	2266	+	Lung NSC(78;0.00976)|all_lung(78;0.016)							C6G482|Q96IP5	Splice_Site	SNP	ENST00000394196.4	37		CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816549	0.70912	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0965	0.93253	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD2	91290271	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	9.378000	0.97191	2.594000	0.87642	0.563000	0.77884	.		0.363	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	Intron	3	83	0	0	0	1	0	3	83				
ADAMTS18	170692	broad.mit.edu	37	16	77327137	77327137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:77327137G>A	ENST00000282849.5	-	20	3443	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1009	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCACCCCTCGTCCACAGGTC	0.488																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3025-3027)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 18							72.0	73.0	73.0					16																	77327137		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327137G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3025C>T	16.37:g.77327137G>A	ENSP00000282849:p.Arg1009*		Somatic					p.R1009*	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			20	3443	-			1009			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.3025C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	41	9.073451	0.99057	.	.	ENSG00000140873	ENST00000282849	.	.	.	6.16	2.93	0.34026	.	0.140471	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	13.7213	0.62728	0.0:0.0:0.4043:0.5957	.	.	.	.	X	1009	.	ENSP00000282849:R1009X	R	-	1	2	ADAMTS18	75884638	1.000000	0.71417	0.952000	0.39060	0.003000	0.03518	2.244000	0.43124	0.885000	0.36088	0.650000	0.86243	CGA		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			133	130	0	0	0	1	0	133	130				
PTGFRN	5738	broad.mit.edu	37	1	117527410	117527410	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:117527410G>A	ENST00000393203.2	+	8	2423	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	759	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACCACCTCCCGGAGGGACTGG	0.587																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2275-2277)cGg>cAg		prostaglandin F2 receptor inhibitor							202.0	158.0	173.0					1																	117527410		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117527410G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2276G>A	1.37:g.117527410G>A	ENSP00000376899:p.Arg759Gln		Somatic					p.R759Q	NM_020440.2	NP_065173.2	WXS	Illumina GAIIx	Phase_I	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	8	2423	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	759			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2276G>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633463	0.29068	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.31247	1.5	5.59	-11.2	0.00127	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.503420	0.03355	N	0.196729	T	0.07683	0.0193	L	0.47716	1.5	0.09310	N	1	B	0.20988	0.05	B	0.10450	0.005	T	0.14337	-1.0476	10	0.13853	T	0.58	-0.0372	14.6344	0.68678	0.1155:0.267:0.6174:0.0	.	759	Q9P2B2	FPRP_HUMAN	Q	759;618	ENSP00000376899:R759Q	ENSP00000376899:R759Q	R	+	2	0	PTGFRN	117328933	0.074000	0.21230	0.000000	0.03702	0.941000	0.58515	0.016000	0.13377	-3.121000	0.00238	-0.258000	0.10820	CGG		0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		5	195	0	0	0	1	0	5	195				
KLHDC10	23008	broad.mit.edu	37	7	129761967	129761967	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:129761967A>T	ENST00000335420.5	+	5	838	c.704A>T	c.(703-705)cAc>cTc	p.H235L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	235						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ACAGACCTGCACAAGTTAGAT	0.433																																						ENST00000335420.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(703-705)cAc>cTc		kelch domain containing 10							148.0	115.0	126.0					7																	129761967		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129761967A>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.704A>T	7.37:g.129761967A>T	ENSP00000334140:p.His235Leu		Somatic					p.H235L	NM_014997.3	NP_055812.1	WXS	Illumina GAIIx	Phase_I	Q6PID8	KLD10_HUMAN			5	838	+			235					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.704A>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899236	0.91962	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.64085	-0.08;-0.08	5.47	5.47	0.80525	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.961;0.998	T	0.78219	-0.2289	10	0.51188	T	0.08	-15.1381	14.7329	0.69397	1.0:0.0:0.0:0.0	.	84;92;235	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	L	235;92	ENSP00000334140:H235L;ENSP00000420034:H92L	ENSP00000334140:H235L	H	+	2	0	KLHDC10	129549203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.064000	0.61679	0.533000	0.62120	CAC		0.433	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			30	179	0	0	0	1	0	30	179				
RALGPS2	55103	broad.mit.edu	37	1	178802557	178802557	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:178802557A>T	ENST00000367635.3	+	8	818		c.e8-1		RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTGTTTTTTAGTTATTAAGT	0.259																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e8-1		Ral GEF with PH domain and SH3 binding motif 2							37.0	39.0	38.0					1																	178802557		2200	4282	6482	SO:0001630	splice_region_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178802557A>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.481-1A>T	1.37:g.178802557A>T			Somatic				RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site		NM_152663.3	NP_689876.2	WXS	Illumina GAIIx	Phase_I	Q86X27	RGPS2_HUMAN			8	818	+								B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Splice_Site	SNP	ENST00000367635.3	37		CCDS1325.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120441	0.77323	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	.	.	.	5.98	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6582	0.51330	0.8547:0.0:0.0:0.1453	.	.	.	.	.	-1	.	.	.	+	.	.	RALGPS2	177069180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.829000	0.92055	1.061000	0.40601	0.528000	0.53228	.		0.259	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	Intron	4	51	0	0	0	1	0	4	51				
TRUB2	26995	broad.mit.edu	37	9	131072072	131072072	+	Silent	SNP	G	G	C	rs368076562		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131072072G>C	ENST00000372890.4	-	8	1086	c.753C>G	c.(751-753)gtC>gtG	p.V251V	TRUB2_ENST00000546104.1_Silent_p.V195V|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	251					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CTTGGGTGCAGACAGCAGTGG	0.577																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(751-753)gtC>gtG		TruB pseudouridine (psi) synthase family member 2							119.0	100.0	106.0					9																	131072072		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131072072G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.753C>G	9.37:g.131072072G>C			Somatic				TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Silent_p.V195V	p.V251V	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1086	-			251					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.753C>G	CCDS6897.1																																																																																				0.577	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		20	86	0	0	0	1	0	20	86				
ABCA8	10351	broad.mit.edu	37	17	66873803	66873803	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:66873803G>A	ENST00000269080.2	-	31	4073	c.3936C>T	c.(3934-3936)agC>agT	p.S1312S	ABCA8_ENST00000430352.2_Silent_p.S1352S|ABCA8_ENST00000586539.1_Silent_p.S1352S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1312	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCCCTCCACCGCTCCCTTTCA	0.567																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3934-3936)agC>agT		ATP-binding cassette, sub-family A (ABC1), member 8							89.0	80.0	83.0					17																	66873803		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873803G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3936C>T	17.37:g.66873803G>A			Somatic				ABCA8_ENST00000430352.2_Silent_p.S1352S|ABCA8_ENST00000586539.1_Silent_p.S1352S	p.S1312S	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			31	4073	-	Breast(10;4.56e-13)		1312			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.3936C>T	CCDS11680.1																																																																																				0.567	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		5	106	0	0	0	1	0	5	106				
DMRTC2	63946	broad.mit.edu	37	19	42354556	42354556	+	Intron	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:42354556G>A	ENST00000269945.3	+	8	867				DMRTC2_ENST00000596827.1_Missense_Mutation_p.R311Q	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGGCAGAAGCGGGGGTTCCCA	0.612																																						ENST00000596827.1																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(931-933)cGg>cAg		DMRT-like family C2							51.0	58.0	55.0					19																	42354556		2203	4300	6503	SO:0001627	intron_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42354556G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.817-38G>A	19.37:g.42354556G>A			Somatic				DMRTC2_ENST00000269945.3_Intron	p.R311Q			WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			7	1018	+			275			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.932G>A	CCDS33034.1																																																																																				0.612	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		33	82	0	0	0	1	0	33	82				
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:158988314C>A	ENST00000295809.7	+	5	1100	c.845C>A	c.(844-846)gCt>gAt	p.A282D	IFI16_ENST00000340979.6_Missense_Mutation_p.A282D|IFI16_ENST00000448393.2_Missense_Mutation_p.A282D|IFI16_ENST00000368132.3_Missense_Mutation_p.A282D|IFI16_ENST00000359709.3_Missense_Mutation_p.A226D|IFI16_ENST00000368131.4_Missense_Mutation_p.A282D|IFI16_ENST00000430894.2_Missense_Mutation_p.A230D			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	282	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|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)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(844-846)gCt>gAt		interferon, gamma-inducible protein 16							65.0	66.0	66.0					1																	158988314		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988314C>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.845C>A	1.37:g.158988314C>A	ENSP00000295809:p.Ala282Asp		Somatic				IFI16_ENST00000340979.6_Missense_Mutation_p.A282D|IFI16_ENST00000368132.3_Missense_Mutation_p.A282D|IFI16_ENST00000368131.4_Missense_Mutation_p.A282D|IFI16_ENST00000359709.3_Missense_Mutation_p.A226D|IFI16_ENST00000448393.2_Missense_Mutation_p.A282D|IFI16_ENST00000430894.2_Missense_Mutation_p.A230D	p.A282D			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			5	1100	+	all_hematologic(112;0.0429)		282			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.845C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.410197|2.410197	0.42715|0.42715	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36;1.36|.	2.9|2.9	-0.208|-0.208	0.13185|0.13185	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.26304|0.26304	0.0642|0.0642	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;P;D|.	0.69307|.	0.963;0.904;0.963|.	T|T	0.31251|0.31251	-0.9950|-0.9950	8|5	.|.	.|.	.|.	.|.	5.1772|5.1772	0.15141|0.15141	0.0:0.5616:0.0:0.4384|0.0:0.5616:0.0:0.4384	.|.	230;282;282|.	E7EPR3;Q16666-2;Q16666|.	.;.;IF16_HUMAN|.	D|M	282;282;282;282;230|103	ENSP00000295809:A282D;ENSP00000342741:A282D;ENSP00000357113:A282D;ENSP00000357114:A282D;ENSP00000394935:A230D|.	.|.	A|L	+|+	2|1	0|2	IFI16|IFI16	157254938|157254938	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.049000|0.049000	0.14656|0.14656	-1.061000|-1.061000	0.03472|0.03472	0.086000|0.086000	0.17137|0.17137	0.555000|0.555000	0.69702|0.69702	GCT|CTG		0.338	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		5	151	1	0	0.184627	1	0.184627	5	151				
KPNA3	3839	broad.mit.edu	37	13	50279921	50279921	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:50279921T>A	ENST00000261667.3	-	15	1624		c.e15-2			NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GTACTCAACCTAGACAACAAA	0.388																																						ENST00000261667.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21						c.e15-2		karyopherin alpha 3 (importin alpha 4)							47.0	43.0	45.0					13																	50279921		2203	4298	6501	SO:0001630	splice_region_variant	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50279921T>A	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1210-2A>T	13.37:g.50279921T>A			Somatic						NM_002267.3	NP_002258.2	WXS	Illumina GAIIx	Phase_I	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	15	1624	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)						O00191|O43195|Q5JVM9|Q96AA7	Splice_Site	SNP	ENST00000261667.3	37		CCDS9421.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024532	0.75390	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8108	0.78561	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KPNA3	49177922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.960000	0.87893	2.142000	0.66516	0.533000	0.62120	.		0.388	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	Intron	5	96	0	0	0	1	0	5	96				
PTPDC1	138639	broad.mit.edu	37	9	96857602	96857602	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:96857602A>T	ENST00000375360.3	+	6	798	c.458A>T	c.(457-459)tAc>tTc	p.Y153F	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	153					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCCTAGTTTACTTCTACAAT	0.353																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(457-459)tAc>tTc		protein tyrosine phosphatase domain containing 1							131.0	134.0	133.0					9																	96857602		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96857602A>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.458A>T	9.37:g.96857602A>T	ENSP00000364509:p.Tyr153Phe		Somatic				PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y205F	p.Y153F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	A2A3K4	PTPC1_HUMAN			6	798	+			153					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.458A>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317711	0.60524	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.21361	2.01;2.01	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.16743	0.435	0.54753	D	0.999982	P;P;P;P	0.41498	0.752;0.708;0.642;0.747	P;P;P;P	0.56563	0.615;0.48;0.672;0.801	T	0.08269	-1.0730	10	0.19590	T	0.45	-21.9296	15.0326	0.71720	1.0:0.0:0.0:0.0	.	207;205;207;153	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	F	153;205	ENSP00000364509:Y153F;ENSP00000288976:Y205F	ENSP00000288976:Y205F	Y	+	2	0	PTPDC1	95897423	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	6.875000	0.75551	2.284000	0.76573	0.528000	0.53228	TAC		0.353	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		6	229	0	0	0	1	0	6	229				
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:100286421A>T	ENST00000259365.4	+	2	165		c.e2-1		TMOD1_ENST00000395211.2_Splice_Site	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.e2-1		tropomodulin 1							64.0	60.0	62.0					9																	100286421		2203	4300	6503	SO:0001630	splice_region_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100286421A>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.-48-1A>T	9.37:g.100286421A>T			Somatic				TMOD1_ENST00000259365.3_Splice_Site		NM_001166116.1	NP_001159588.1	WXS	Illumina GAIIx	Phase_I	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	2	88	+		Acute lymphoblastic leukemia(62;0.154)						B2RB77|Q5T7W3|Q9BUF1	Splice_Site	SNP	ENST00000259365.4	37		CCDS6726.1																																																																																				0.453	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	Intron	6	253	0	0	0	1	0	6	253				
EHBP1L1	254102	broad.mit.edu	37	11	65350682	65350682	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:65350682G>A	ENST00000309295.4	+	9	2804	c.2539G>A	c.(2539-2541)Ggg>Agg	p.G847R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	847	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACAGAGGTCGGGGGTTCAGG	0.552																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2539-2541)Ggg>Agg		EH domain binding protein 1-like 1							27.0	29.0	28.0					11																	65350682		1844	4087	5931	SO:0001583	missense	254102							g.chr11:65350682G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2539G>A	11.37:g.65350682G>A	ENSP00000312671:p.Gly847Arg		Somatic					p.G847R	NM_001099409.1	NP_001092879.1	WXS	Illumina GAIIx	Phase_I	Q8N3D4	EH1L1_HUMAN			9	2804	+			847			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.2539G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561157	0.45590	.	.	ENSG00000173442	ENST00000309295	T	0.73469	-0.75	4.67	1.48	0.22813	.	1.354100	0.05403	N	0.541105	T	0.57154	0.2034	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44817	-0.9303	10	0.44086	T	0.13	.	3.6876	0.08334	0.0902:0.3043:0.4495:0.156	.	847	Q8N3D4	EH1L1_HUMAN	R	847	ENSP00000312671:G847R	ENSP00000312671:G847R	G	+	1	0	EHBP1L1	65107258	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.318000	0.02705	0.379000	0.24794	-0.191000	0.12829	GGG		0.552	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		12	20	0	0	0	1	0	12	20				
DUSP27	92235	broad.mit.edu	37	1	167097406	167097406	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:167097406G>T	ENST00000361200.2	+	6	3204	c.3038G>T	c.(3037-3039)aGg>aTg	p.R1013M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1013M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1013M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1013	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCTCCACCAGGGAGGGCAGA	0.552																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(3037-3039)aGg>aTg		dual specificity phosphatase 27 (putative)							63.0	61.0	62.0					1																	167097406		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097406G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3038G>T	1.37:g.167097406G>T	ENSP00000354483:p.Arg1013Met		Somatic				DUSP27_ENST00000443333.1_Missense_Mutation_p.R1013M|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1013M|DUSP27_ENST00000485151.1_Intron	p.R1013M			WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			6	3204	+			1013			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3038G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303109	0.40795	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03635	3.86;3.86;3.86	5.42	2.52	0.30459	.	0.483859	0.18924	N	0.127415	T	0.02342	0.0072	L	0.57536	1.79	0.23249	N	0.99805	P	0.52842	0.956	P	0.46975	0.533	T	0.38824	-0.9643	10	0.87932	D	0	-17.9785	7.3742	0.26818	0.4979:0.0:0.502:0.0	.	1013	Q5VZP5	DUS27_HUMAN	M	1013	ENSP00000354483:R1013M;ENSP00000271385:R1013M;ENSP00000404874:R1013M	ENSP00000271385:R1013M	R	+	2	0	DUSP27	165364030	0.904000	0.30761	0.990000	0.47175	0.599000	0.36880	1.617000	0.36943	0.255000	0.21593	0.643000	0.83706	AGG		0.552	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	227	1	0	5.9392e-07	1	6.48293e-07	5	227				
ZNF100	163227	broad.mit.edu	37	19	21910514	21910514	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:21910514A>T	ENST00000358296.6	-	5	798	c.600T>A	c.(598-600)acT>acA	p.T200T	ZNF100_ENST00000305570.6_Silent_p.T136T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	200					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GTTTCTTTCTAGTATGTCTTA	0.299																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(598-600)acT>acA		zinc finger protein 100							70.0	73.0	72.0					19																	21910514		2055	4224	6279	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910514A>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.600T>A	19.37:g.21910514A>T			Somatic				ZNF100_ENST00000305570.6_Silent_p.T136T	p.T200T	NM_173531.3	NP_775802.2	WXS	Illumina GAIIx	Phase_I	Q8IYN0	ZN100_HUMAN			5	798	-			200					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.600T>A	CCDS42538.1																																																																																				0.299	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		5	110	0	0	0	1	0	5	110				
F10	2159	broad.mit.edu	37	13	113801797	113801797	+	Silent	SNP	C	C	T	rs5959		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:113801797C>T	ENST00000375559.3	+	7	890	c.852C>T	c.(850-852)ttC>ttT	p.F284F	F10_ENST00000375551.3_Silent_p.F284F|F10_ENST00000409306.1_Silent_p.F284F	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCAAGAGATTCAAGGTGAGGG	0.512																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(850-852)ttC>ttT		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						81.0	66.0	71.0					13																	113801797		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113801797C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.852C>T	13.37:g.113801797C>T			Somatic				F10_ENST00000375551.3_Silent_p.F284F|F10_ENST00000409306.1_Silent_p.F284F	p.F284F	NM_000504.3	NP_000495.1	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	890	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	284			Peptidase S1.		Q14340	Silent	SNP	ENST00000375559.3	37	c.852C>T	CCDS9530.1																																																																																				0.512	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			10	29	0	0	0	1	0	10	29				
IMPG2	50939	broad.mit.edu	37	3	100961671	100961671	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:100961671C>T	ENST00000193391.7	-	14	3070	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	961	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTCGACTGTTCACCACAATGC	0.433																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2881-2883)gtG>gtA		interphotoreceptor matrix proteoglycan 2							148.0	131.0	137.0					3																	100961671		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961671C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2883G>A	3.37:g.100961671C>T			Somatic					p.V961V	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			14	3070	-			961			SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.2883G>A	CCDS2940.1																																																																																				0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			23	484	0	0	0	1	0	23	484				
U2SURP	23350	broad.mit.edu	37	3	142733221	142733221	+	Missense_Mutation	SNP	T	T	A	rs202018152		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:142733221T>A	ENST00000473835.2	+	4	381	c.291T>A	c.(289-291)agT>agA	p.S97R	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	97					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAACTTTAAGTAAAAAGGAAC	0.299																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(289-291)agT>agA		U2 snRNP-associated SURP domain containing							51.0	48.0	49.0					3																	142733221		1814	4070	5884	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142733221T>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.291T>A	3.37:g.142733221T>A	ENSP00000418563:p.Ser97Arg		Somatic				U2SURP_ENST00000493598.2_Missense_Mutation_p.S97R|U2SURP_ENST00000397933.2_5'UTR	p.S97R	NM_001080415.1	NP_001073884.1	WXS	Illumina GAIIx	Phase_I	O15042	SR140_HUMAN			4	381	+			97					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.291T>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967085	0.74131	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11385	2.78;2.78	5.5	1.53	0.23141	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.99	D;D;P	0.68621	0.959;0.925;0.843	T	0.05869	-1.0859	10	0.23302	T	0.38	-18.1071	6.3851	0.21556	0.0:0.5358:0.0:0.4642	.	97;97;97	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	R	97;97;97;97;67	ENSP00000418563:S97R;ENSP00000422011:S97R	ENSP00000322376:S97R	S	+	3	2	U2SURP	144215911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.477000	0.35431	0.488000	0.27723	-0.371000	0.07208	AGT		0.299	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		5	93	0	0	0	1	0	5	93				
TRUB2	26995	broad.mit.edu	37	9	131071960	131071960	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131071960G>C	ENST00000372890.4	-	8	1198	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(865-867)Cag>Gag		TruB pseudouridine (psi) synthase family member 2							53.0	51.0	51.0					9																	131071960		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131071960G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.865C>G	9.37:g.131071960G>C	ENSP00000361982:p.Gln289Glu		Somatic				TRUB2_ENST00000546104.1_Missense_Mutation_p.Q233E	p.Q289E	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1198	-			289					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.865C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530800	0.27387	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.16196	2.36;2.36	5.68	3.85	0.44370	Pseudouridine synthase, catalytic domain (1);	0.296736	0.29594	N	0.011707	T	0.08268	0.0206	N	0.14661	0.345	0.21184	N	0.999766	B	0.12013	0.005	B	0.11329	0.006	T	0.38436	-0.9661	10	0.02654	T	1	-20.5685	10.6271	0.45514	0.0:0.1119:0.5714:0.3167	.	289	O95900	TRUB2_HUMAN	E	289;233	ENSP00000361982:Q289E;ENSP00000438084:Q233E	ENSP00000361982:Q289E	Q	-	1	0	TRUB2	130111781	1.000000	0.71417	0.986000	0.45419	0.386000	0.30323	3.358000	0.52284	0.753000	0.32945	0.561000	0.74099	CAG		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		24	62	0	0	0	1	0	24	62				
FAM175A	84142	broad.mit.edu	37	4	84384645	84384645	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:84384645A>T	ENST00000321945.7	-	8	905		c.e8+1		FAM175A_ENST00000506553.1_Splice_Site|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A						chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTGTTTACTTACTTGCTGCCT	0.368																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.e8+1		family with sequence similarity 175, member A							157.0	138.0	145.0					4																	84384645		2203	4300	6503	SO:0001630	splice_region_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84384645A>T	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.796+1T>A	4.37:g.84384645A>T			Somatic				MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Splice_Site		NM_139076.2	NP_620775.2	WXS	Illumina GAIIx	Phase_I	Q6UWZ7	F175A_HUMAN			8	905	-								A5JJ07|Q9H8I1|Q9H9N4	Splice_Site	SNP	ENST00000321945.7	37		CCDS3605.2	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407237	0.25378	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	.	.	.	5.99	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5203	0.50546	0.9303:0.0:0.0697:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM175A	84603669	1.000000	0.71417	0.884000	0.34674	0.121000	0.20230	3.536000	0.53582	1.089000	0.41292	0.529000	0.55759	.		0.368	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	Intron	4	123	0	0	0	1	0	4	123				
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	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			Somatic						NM_001624.2	NP_001615.1	WXS	Illumina GAIIx	Phase_I	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	4	123	0	0	0	1	0	4	123				
ABCA12	26154	broad.mit.edu	37	2	215807719	215807719	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:215807719A>G	ENST00000272895.7	-	50	7585	c.7366T>C	c.(7366-7368)Tgt>Cgt	p.C2456R	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C2138R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2456	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		AACCTGGTACAGAGAGCTTCA	0.378																																					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.(7366-7368)Tgt>Cgt		ATP-binding cassette, sub-family A (ABC1), member 12							124.0	106.0	112.0					2																	215807719		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215807719A>G	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.7366T>C	2.37:g.215807719A>G	ENSP00000272895:p.Cys2456Arg		Somatic				ABCA12_ENST00000389661.4_Missense_Mutation_p.C2138R|AC072062.1_ENST00000607412.1_RNA	p.C2456R	NM_173076.2	NP_775099.2	WXS	Illumina GAIIx	Phase_I	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)	50	7585	-		Renal(323;0.127)	2456			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.7366T>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424035	0.83667	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.99751	-6.63;-6.63	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.96362	0.9267	10	0.87932	D	0	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	2456;2138	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	2456;2138	ENSP00000272895:C2456R;ENSP00000374312:C2138R	ENSP00000272895:C2456R	C	-	1	0	ABCA12	215515964	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.971000	0.93419	2.276000	0.75962	0.528000	0.53228	TGT		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	159	0	0	0	1	0	5	159				
EXO1	9156	broad.mit.edu	37	1	242042151	242042151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:242042151G>T	ENST00000366548.3	+	13	2208	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	EXO1_ENST00000348581.5_Nonsense_Mutation_p.E539*|EXO1_ENST00000518483.1_Nonsense_Mutation_p.E539*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	539					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAATCTGCATGAATCAGAGTA	0.408								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(1615-1617)Gaa>Taa	Editing and processing nucleases	exonuclease 1							100.0	90.0	93.0					1																	242042151		2203	4300	6503	SO:0001587	stop_gained	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042151G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1615G>T	1.37:g.242042151G>T	ENSP00000355506:p.Glu539*		Somatic				EXO1_ENST00000518483.1_Nonsense_Mutation_p.E539*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.E539*	p.E539*	NM_130398.3	NP_569082.2	WXS	Illumina GAIIx	Phase_I	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2208	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	539					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Nonsense_Mutation	SNP	ENST00000366548.3	37	c.1615G>T	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	40	8.173380	0.98688	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	.	.	.	5.2	3.27	0.37495	.	0.367199	0.27231	N	0.020315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	0.1306	7.2515	0.26152	0.0869:0.3348:0.5783:0.0	.	.	.	.	X	539	.	ENSP00000311873:E539X	E	+	1	0	EXO1	240108774	0.264000	0.24093	0.002000	0.10522	0.151000	0.21798	2.117000	0.41939	0.730000	0.32425	0.650000	0.86243	GAA		0.408	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		5	157	1	0	1.23904e-05	1	1.33369e-05	5	157				
SLC4A7	9497	broad.mit.edu	37	3	27436470	27436470	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:27436470A>T	ENST00000295736.5	-	19	2883	c.2813T>A	c.(2812-2814)aTa>aAa	p.I938K	SLC4A7_ENST00000440156.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I814K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I930K|SLC4A7_ENST00000435667.2_Missense_Mutation_p.I823K|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000454389.1_Missense_Mutation_p.I947K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I488K	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	938					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTTTCTGTTTATAATTACAGC	0.338																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2812-2814)aTa>aAa		solute carrier family 4, sodium bicarbonate cotransporter, member 7							84.0	82.0	83.0					3																	27436470		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27436470A>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2813T>A	3.37:g.27436470A>T	ENSP00000295736:p.Ile938Lys		Somatic				SLC4A7_ENST00000454389.1_Missense_Mutation_p.I947K|SLC4A7_ENST00000388777.4_Missense_Mutation_p.I488K|SLC4A7_ENST00000445684.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.I934K|SLC4A7_ENST00000435667.2_Missense_Mutation_p.I823K|SLC4A7_ENST00000455077.1_Missense_Mutation_p.I819K|SLC4A7_ENST00000428386.1_Missense_Mutation_p.I814K|SLC4A7_ENST00000446700.1_Missense_Mutation_p.I930K|SLC4A7_ENST00000437179.1_Missense_Mutation_p.I819K	p.I938K	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			19	2883	-			938					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2813T>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.049296	0.93740	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	6.06	6.06	0.98353	Bicarbonate transporter, C-terminal (1);	0.043161	0.85682	D	0.000000	D	0.92205	0.7528	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;0.985;0.998;1.0;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.997;0.991;0.995;0.985;0.995;0.956;0.984;0.997;0.997	D	0.93820	0.7118	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	934;819;930;934;947;488;814;938;819	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	K	489;938;814;947;934;819;930;819;934;823;488;834	ENSP00000411031:I489K;ENSP00000295736:I938K;ENSP00000416368:I814K;ENSP00000390394:I947K;ENSP00000414797:I934K;ENSP00000394252:I819K;ENSP00000406605:I930K;ENSP00000407382:I819K;ENSP00000406804:I934K;ENSP00000395336:I823K;ENSP00000373429:I488K;ENSP00000388703:I834K	ENSP00000295736:I938K	I	-	2	0	SLC4A7	27411474	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	ATA		0.338	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	132	0	0	0	1	0	4	132				
PHLDB2	90102	broad.mit.edu	37	3	111632259	111632259	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:111632259C>A	ENST00000431670.2	+	3	1840	c.1429C>A	c.(1429-1431)Cag>Aag	p.Q477K	PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	477						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAAGATGTGCAGAAAATCAA	0.522																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1429-1431)Cag>Aag		pleckstrin homology-like domain, family B, member 2							113.0	110.0	111.0					3																	111632259		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632259C>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1429C>A	3.37:g.111632259C>A	ENSP00000405405:p.Gln477Lys		Somatic				PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q504K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q63K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.Q477K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q477K	p.Q477K	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			3	1840	+			477					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1429C>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846218	0.91277	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.36699	1.24;1.3;1.26;1.27;1.3;1.26;1.61	5.78	5.78	0.91487	.	0.261774	0.40385	N	0.001115	T	0.57681	0.2070	M	0.63843	1.955	0.54753	D	0.999985	D;B;D;P;B	0.71674	0.969;0.094;0.998;0.51;0.264	D;B;D;B;B	0.78314	0.93;0.039;0.991;0.197;0.164	T	0.51474	-0.8701	10	0.37606	T	0.19	.	16.9203	0.86162	0.0:1.0:0.0:0.0	.	63;477;477;477;504	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	K	504;504;477;477;477;477;477;477;63	ENSP00000377500:Q504K;ENSP00000405405:Q477K;ENSP00000405292:Q477K;ENSP00000418296:Q477K;ENSP00000377502:Q477K;ENSP00000418319:Q477K;ENSP00000420303:Q63K	ENSP00000352764:Q504K	Q	+	1	0	PHLDB2	113114949	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.062000	0.64326	2.734000	0.93682	0.655000	0.94253	CAG		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		35	582	1	0	1.36239e-07	1	1.49766e-07	35	582				
TM9SF4	9777	broad.mit.edu	37	20	30745667	30745667	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:30745667G>T	ENST00000398022.2	+	14	1635	c.1400G>T	c.(1399-1401)gGc>gTc	p.G467V	TM9SF4_ENST00000217315.5_Missense_Mutation_p.G450V	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	467						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCTACTTGGGCTACTACTTC	0.592																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1348-1350)gGc>gTc		transmembrane 9 superfamily protein member 4							163.0	151.0	155.0					20																	30745667		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745667G>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1400G>T	20.37:g.30745667G>T	ENSP00000381104:p.Gly467Val		Somatic				TM9SF4_ENST00000398022.2_Missense_Mutation_p.G467V	p.G450V			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1689	+			467					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1349G>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832019	0.91036	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.77620	-1.11;-1.11	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95724	0.8769	10	0.87932	D	0	-18.6109	18.4218	0.90594	0.0:0.0:1.0:0.0	.	374;467	B4DH88;Q92544	.;TM9S4_HUMAN	V	467;450	ENSP00000381104:G467V;ENSP00000217315:G450V	ENSP00000217315:G450V	G	+	2	0	TM9SF4	30209328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.463000	0.97652	2.572000	0.86782	0.655000	0.94253	GGC		0.592	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		20	182	1	0	5.26018e-13	1	5.9513e-13	20	182				
HIVEP3	59269	broad.mit.edu	37	1	42048988	42048988	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:42048988C>T	ENST00000372583.1	-	4	2366	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R494H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	494	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATGCTGCTGCGCCTGGACAG	0.587																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1480-1482)cGc>cAc		human immunodeficiency virus type I enhancer binding protein 3							87.0	87.0	87.0					1																	42048988		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048988C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1481G>A	1.37:g.42048988C>T	ENSP00000361664:p.Arg494His		Somatic				HIVEP3_ENST00000372583.1_Missense_Mutation_p.R494H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494H	p.R494H	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	2495	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	494			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1481G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340783	0.60963	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	4.82	3.91	0.45181	.	0.122178	0.37809	N	0.001922	T	0.39886	0.1095	M	0.71206	2.165	0.40236	D	0.977906	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.38329	-0.9666	10	0.72032	D	0.01	0.0787	12.9088	0.58169	0.0:0.9206:0.0:0.0794	.	494;494	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	494	ENSP00000361665:R494H;ENSP00000361664:R494H;ENSP00000247584:R494H;ENSP00000410828:R494H	ENSP00000247584:R494H	R	-	2	0	HIVEP3	41821575	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	3.769000	0.55303	1.266000	0.44231	0.561000	0.74099	CGC		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	82	0	0	0	1	0	7	82				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						ENST00000415664.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e6+1		transmembrane phosphatase with tensin homology																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T			Somatic								WXS	Illumina GAIIx	Phase_I	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	808	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37																																																																																						0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	4	112	0	0	0	1	0	4	112				
NMRAL1	57407	broad.mit.edu	37	16	4511943	4511943	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:4511943G>A	ENST00000574733.1	-	6	1467	c.738C>T	c.(736-738)taC>taT	p.Y246Y	NMRAL1_ENST00000572391.1_5'Flank|NMRAL1_ENST00000574425.1_Silent_p.Y246Y|NMRAL1_ENST00000283429.6_Silent_p.Y246Y|NMRAL1_ENST00000404295.3_Silent_p.Y246Y			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	246						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAAGCTTTTCGTAGTCCTCAG	0.647																																						ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(736-738)taC>taT		NmrA-like family domain containing 1							92.0	94.0	93.0					16																	4511943		2197	4300	6497	SO:0001819	synonymous_variant	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4511943G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.738C>T	16.37:g.4511943G>A			Somatic				NMRAL1_ENST00000283429.6_Silent_p.Y246Y|NMRAL1_ENST00000404295.3_Silent_p.Y246Y|NMRAL1_ENST00000574425.1_Silent_p.Y246Y	p.Y246Y			WXS	Illumina GAIIx	Phase_I	Q9HBL8	NMRL1_HUMAN			6	1467	-			246						Silent	SNP	ENST00000574733.1	37	c.738C>T	CCDS10516.1																																																																																				0.647	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		34	75	0	0	0	1	0	34	75				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	45	0	0	0	1	0	4	45				
ETV3L	440695	broad.mit.edu	37	1	157062456	157062456	+	Silent	SNP	G	G	T	rs542254548		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:157062456G>T	ENST00000454449.2	-	5	1355	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	357					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GAGGATCCAAGGGCCACACTG	0.572																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1069-1071)ccC>ccA		ets variant 3-like							69.0	73.0	71.0					1																	157062456		2203	4300	6503	SO:0001819	synonymous_variant	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062456G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.1071C>A	1.37:g.157062456G>T			Somatic					p.P357P	NM_001004341.2	NP_001004341.1	WXS	Illumina GAIIx	Phase_I	Q6ZN32	ETV3L_HUMAN			5	1355	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	357						Silent	SNP	ENST00000454449.2	37	c.1071C>A	CCDS30893.1																																																																																				0.572	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		110	137	1	0	7.95947e-74	1	9.34635e-74	110	137				
DAW1	164781	broad.mit.edu	37	2	228762944	228762944	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:228762944A>T	ENST00000309931.2	+	6	570	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	DAW1_ENST00000545118.1_Missense_Mutation_p.S148C|DAW1_ENST00000373666.2_Missense_Mutation_p.S163C	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	163						cilium (GO:0005929)											TAAACTCTGGAGTGTGGAAAC	0.269																																						ENST00000373666.2																			0											c.(487-489)Agt>Tgt		dynein assembly factor with WDR repeat domains 1							44.0	47.0	46.0					2																	228762944		2203	4299	6502	SO:0001583	missense	164781							g.chr2:228762944A>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.487A>T	2.37:g.228762944A>T	ENSP00000311899:p.Ser163Cys		Somatic				DAW1_ENST00000545118.1_Missense_Mutation_p.S148C|DAW1_ENST00000309931.2_Missense_Mutation_p.S163C	p.S163C			WXS	Illumina GAIIx	Phase_I					6	1123	+								Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.487A>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.397949	0.42512	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.62788	-0.0;-0.0;-0.0	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.087925	0.85682	D	0.000000	T	0.65770	0.2723	M	0.80746	2.51	0.58432	D	0.999993	B	0.17852	0.024	B	0.22152	0.038	T	0.66143	-0.5997	10	0.54805	T	0.06	.	13.883	0.63691	1.0:0.0:0.0:0.0	.	163	Q8N136	WDR69_HUMAN	C	163;163;148	ENSP00000362770:S163C;ENSP00000311899:S163C;ENSP00000437887:S148C	ENSP00000311899:S163C	S	+	1	0	WDR69	228471188	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.906000	0.69900	1.973000	0.57446	0.454000	0.30748	AGT		0.269	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		3	66	0	0	0	1	0	3	66				
FSTL4	23105	broad.mit.edu	37	5	132561349	132561349	+	Splice_Site	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:132561349C>A	ENST00000265342.7	-	9	1427		c.e9+1		FSTL4_ENST00000507112.1_Splice_Site|CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTTCTTACCTAAAAGGGA	0.453																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.e9+1		follistatin-like 4							136.0	126.0	129.0					5																	132561349		2203	4300	6503	SO:0001630	splice_region_variant	23105					extracellular region	calcium ion binding	g.chr5:132561349C>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1177+1G>T	5.37:g.132561349C>A			Somatic				FSTL4_ENST00000507112.1_Splice_Site		NM_015082.1	NP_055897.1	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1427	-		all_cancers(142;0.244)						Q8TBU0|Q9UPU1	Splice_Site	SNP	ENST00000265342.7	37		CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460189	0.84317	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4248	0.94737	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL4	132589248	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.487000	0.81328	2.837000	0.97791	0.591000	0.81541	.		0.453	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	Intron	63	195	1	0	7.1157e-29	1	8.29273e-29	63	195				
FAM161A	84140	broad.mit.edu	37	2	62067095	62067095	+	Nonsense_Mutation	SNP	A	A	T	rs549784796		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:62067095A>T	ENST00000405894.3	-	3	1145	c.1044T>A	c.(1042-1044)taT>taA	p.Y348*	FAM161A_ENST00000404929.1_Nonsense_Mutation_p.Y348*	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	348					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTTTTTATACTTAAGAA	0.398																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1042-1044)taT>taA		family with sequence similarity 161, member A							104.0	101.0	102.0					2																	62067095		1842	4095	5937	SO:0001587	stop_gained	84140				response to stimulus|visual perception	centrosome		g.chr2:62067095A>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1044T>A	2.37:g.62067095A>T	ENSP00000385893:p.Tyr348*		Somatic				FAM161A_ENST00000405894.3_Nonsense_Mutation_p.Y348*	p.Y348*	NM_001201543.1	NP_001188472.1	WXS	Illumina GAIIx	Phase_I	Q3B820	F161A_HUMAN			3	1055	-			348					B4DJV7|Q9H8R2	Nonsense_Mutation	SNP	ENST00000405894.3	37	c.1044T>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	37	6.132342	0.97310	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	.	.	.	5.41	5.41	0.78517	.	0.862713	0.10726	N	0.641144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-14.6114	9.3195	0.37955	0.7274:0.0:0.0:0.2726	.	.	.	.	X	348	.	ENSP00000385158:Y348X	Y	-	3	2	FAM161A	61920599	0.994000	0.37717	0.983000	0.44433	0.867000	0.49689	1.297000	0.33400	2.035000	0.60131	0.533000	0.62120	TAT		0.398	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		6	209	0	0	0	1	0	6	209				
KIAA0232	9778	broad.mit.edu	37	4	6882679	6882679	+	Nonsense_Mutation	SNP	C	C	T	rs369289730		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:6882679C>T	ENST00000307659.5	+	10	4629	c.4174C>T	c.(4174-4176)Cga>Tga	p.R1392*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R1392*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1392							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTCTTTTCTCGAACTCATCT	0.458																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(4174-4176)Cga>Tga		KIAA0232		C	stop/ARG,stop/ARG	1,3893		0,1,1946	49.0	59.0	56.0		4174,4174	4.6	1.0	4		56	0,8306		0,0,4153	no	stop-gained,stop-gained	KIAA0232	NM_001100590.1,NM_014743.2	,	0,1,6099	TT,TC,CC		0.0,0.0257,0.0082	,	1392/1396,1392/1396	6882679	1,12199	1947	4153	6100	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6882679C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.4174C>T	4.37:g.6882679C>T	ENSP00000303928:p.Arg1392*		Somatic				KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R1392*	p.R1392*	NM_014743.2	NP_055558.2	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			10	4629	+			1392					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.4174C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	47	13.219512	0.99728	2.57E-4	0.0	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.47	4.62	0.57501	.	0.000000	0.46145	D	0.000302	.	.	.	.	.	.	0.50171	D	0.999857	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7928	15.8086	0.78538	0.1367:0.8633:0.0:0.0	.	.	.	.	X	1392	.	ENSP00000303928:R1392X	R	+	1	2	KIAA0232	6933580	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.365000	0.52335	1.295000	0.44724	0.561000	0.74099	CGA		0.458	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		9	8	0	0	0	1	0	9	8				
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:155533589T>A	ENST00000336098.3	-	2	117		c.e2-2		FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site|FGG_ENST00000404648.3_Splice_Site	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAACATACTAAAAGAGAAA	0.358																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e2-2		fibrinogen gamma chain	Sucralfate(DB00364)						104.0	115.0	111.0					4																	155533589		2199	4299	6498	SO:0001630	splice_region_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533589T>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.79-2A>T	4.37:g.155533589T>A			Somatic				FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site		NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			2	318	-	all_hematologic(180;0.215)	Renal(120;0.0458)						A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	ENST00000336098.3	37		CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552707	0.65425	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FGG	155753039	1.000000	0.71417	0.940000	0.37924	0.833000	0.47200	5.924000	0.70054	2.236000	0.73375	0.533000	0.62120	.		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	Intron	6	252	0	0	0	1	0	6	252				
PARP14	54625	broad.mit.edu	37	3	122418235	122418235	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:122418235A>T	ENST00000474629.2	+	6	1101		c.e6-1			NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTTCCTTTTAAGTGTTAGACA	0.338																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.e6-1		poly (ADP-ribose) polymerase family, member 14							56.0	51.0	52.0					3																	122418235		1865	4100	5965	SO:0001630	splice_region_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418235A>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.836-1A>T	3.37:g.122418235A>T			Somatic						NM_017554.2	NP_060024.2	WXS	Illumina GAIIx	Phase_I	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1101	+								B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Splice_Site	SNP	ENST00000474629.2	37		CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.722025	0.48728	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	.	.	.	5.46	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.33790	D	0.625338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8969	0.35470	0.8647:0.0:0.1353:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARP14	123900925	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.833000	0.86765	2.291000	0.77112	0.533000	0.62120	.		0.338	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	Intron	4	91	0	0	0	1	0	4	91				
TSHZ1	10194	broad.mit.edu	37	18	72998891	72998891	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr18:72998891C>A	ENST00000580243.1	+	2	1877	c.1529C>A	c.(1528-1530)gCt>gAt	p.A510D	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A465D			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	510					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGCCTGTGGCTGGCGACGCG	0.602																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1393-1395)gCt>gAt		teashirt zinc finger homeobox 1							83.0	98.0	93.0					18																	72998891		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998891C>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1529C>A	18.37:g.72998891C>A	ENSP00000464391:p.Ala510Asp		Somatic				TSHZ1_ENST00000580243.1_Missense_Mutation_p.A510D	p.A465D	NM_005786.5	NP_005777.3	WXS	Illumina GAIIx	Phase_I	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1978	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	510					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1394C>A		.	.	.	.	.	.	.	.	.	.	C	0.616	-0.822953	0.02755	.	.	ENSG00000179981	ENST00000322038	T	0.30182	1.54	5.35	-1.19	0.09585	.	0.905066	0.09584	N	0.782460	T	0.08582	0.0213	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.12766	T	0.61	-7.2991	1.7816	0.03033	0.1173:0.2336:0.2309:0.4183	.	510	Q6ZSZ6	TSH1_HUMAN	D	465	ENSP00000323584:A465D	ENSP00000323584:A465D	A	+	2	0	TSHZ1	71127879	0.303000	0.24463	0.000000	0.03702	0.192000	0.23643	1.459000	0.35234	-0.977000	0.03537	0.459000	0.35465	GCT		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		3	82	1	0	6.4e-05	1	6.84138e-05	3	82				
NTNG2	84628	broad.mit.edu	37	9	135073688	135073688	+	Silent	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:135073688C>T	ENST00000393229.3	+	3	1325	c.549C>T	c.(547-549)cgC>cgT	p.R183R	NTNG2_ENST00000360670.3_Silent_p.R183R|NTNG2_ENST00000393228.4_Silent_p.R183R|NTNG2_ENST00000372179.3_Silent_p.R183R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	183	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCGGGCCCGCGACATGTCAT	0.672																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(547-549)cgC>cgT		netrin G2							29.0	24.0	26.0					9																	135073688		2197	4287	6484	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073688C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.549C>T	9.37:g.135073688C>T			Somatic				NTNG2_ENST00000360670.3_Silent_p.R183R|NTNG2_ENST00000393228.4_Silent_p.R183R|NTNG2_ENST00000372179.3_Silent_p.R183R	p.R183R	NM_032536.2	NP_115925.2	WXS	Illumina GAIIx	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1325	+			183			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.549C>T	CCDS6946.1																																																																																				0.672	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		7	6	0	0	0	1	0	7	6				
ORMDL3	94103	broad.mit.edu	37	17	38079505	38079505	+	Silent	SNP	G	G	A	rs568441883		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:38079505G>A	ENST00000394169.1	-	5	1680	c.186C>T	c.(184-186)atC>atT	p.I62I	ORMDL3_ENST00000584220.1_Silent_p.I46I|ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000579695.1_Silent_p.I62I|ORMDL3_ENST00000304046.2_Silent_p.I62I			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	62					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TGTGCAGGAAGATATACATGC	0.562																																						ENST00000394169.1																			0				endometrium(3)|kidney(1)|lung(1)	5						c.(184-186)atC>atT		ORM1-like 3 (S. cerevisiae)							144.0	142.0	142.0					17																	38079505		2203	4300	6503	SO:0001819	synonymous_variant	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38079505G>A		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.186C>T	17.37:g.38079505G>A			Somatic				ORMDL3_ENST00000579695.1_Silent_p.I62I|ORMDL3_ENST00000304046.2_Silent_p.I62I|ORMDL3_ENST00000584220.1_Silent_p.I46I	p.I62I			WXS	Illumina GAIIx	Phase_I	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		5	1680	-	Colorectal(19;0.000442)		62					B3KS83|Q6UY83	Silent	SNP	ENST00000394169.1	37	c.186C>T	CCDS11355.1																																																																																				0.562	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1	NM_139280		41	150	0	0	0	1	0	41	150				
ZNF609	23060	broad.mit.edu	37	15	64967277	64967277	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:64967277G>A	ENST00000326648.3	+	4	2352	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	742						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGAACTTGAAAGTCCTCT	0.468																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2224-2226)Gaa>Aaa		zinc finger protein 609							89.0	101.0	97.0					15																	64967277		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967277G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2224G>A	15.37:g.64967277G>A	ENSP00000316527:p.Glu742Lys		Somatic					p.E742K	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			4	2352	+			742					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2224G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730872	0.69074	.	.	ENSG00000180357	ENST00000326648	T	0.46451	0.87	5.79	5.79	0.91817	.	0.087426	0.85682	D	0.000000	T	0.39682	0.1087	L	0.34521	1.04	0.80722	D	1	P	0.42518	0.782	P	0.46076	0.503	T	0.07347	-1.0777	10	0.06625	T	0.88	-21.2925	20.0349	0.97554	0.0:0.0:1.0:0.0	.	742	O15014	ZN609_HUMAN	K	742	ENSP00000316527:E742K	ENSP00000316527:E742K	E	+	1	0	ZNF609	62754330	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	8.008000	0.88588	2.735000	0.93741	0.591000	0.81541	GAA		0.468	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	405	0	0	0	1	0	7	405				
USH2A	7399	broad.mit.edu	37	1	216246629	216246629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:216246629G>T	ENST00000307340.3	-	28	5972	c.5586C>A	c.(5584-5586)tgC>tgA	p.C1862*	RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Nonsense_Mutation_p.C1862*|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1862	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CATCCTTCATGCAACCACCGA	0.433										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.(5584-5586)tgC>tgA		Usher syndrome 2A (autosomal recessive, mild)							68.0	56.0	60.0					1																	216246629		2203	4300	6503	SO:0001587	stop_gained	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.chr1:216246629G>T	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.5586C>A	1.37:g.216246629G>T	ENSP00000305941:p.Cys1862*	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Nonsense_Mutation_p.C1862*|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.C1862*			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	5972	-			1862			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.5586C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	50	16.747350	0.99871	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.93	5.01	0.66863	.	0.000000	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.442	0.44471	0.0692:0.1352:0.7956:0.0	.	.	.	.	X	1862	.	ENSP00000305941:C1862X	C	-	3	2	USH2A	214313252	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	4.566000	0.60843	1.487000	0.48415	0.655000	0.94253	TGC		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	100	1	0	1.23904e-05	1	1.33369e-05	5	100				
ZNRF4	148066	broad.mit.edu	37	19	5456330	5456330	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:5456330G>T	ENST00000222033.4	+	1	905	c.828G>T	c.(826-828)tgG>tgT	p.W276C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	276						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCACCTGTGGCTCTGGGCCC	0.652																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(826-828)tgG>tgT		zinc and ring finger 4							37.0	42.0	40.0					19																	5456330		2071	4193	6264	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456330G>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.828G>T	19.37:g.5456330G>T	ENSP00000222033:p.Trp276Cys		Somatic					p.W276C	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	905	+			276					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.828G>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450858	0.63290	.	.	ENSG00000105428	ENST00000222033	T	0.04862	3.54	3.97	2.87	0.33458	.	.	.	.	.	T	0.14270	0.0345	L	0.36672	1.1	0.44439	D	0.997366	D	0.76494	0.999	D	0.79784	0.993	T	0.01010	-1.1482	9	0.56958	D	0.05	-17.287	10.5319	0.44981	0.0:0.1982:0.8018:0.0	.	276	Q8WWF5	ZNRF4_HUMAN	C	276	ENSP00000222033:W276C	ENSP00000222033:W276C	W	+	3	0	ZNRF4	5407330	0.153000	0.22777	0.014000	0.15608	0.694000	0.40290	1.096000	0.30976	0.719000	0.32188	0.491000	0.48974	TGG		0.652	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		8	85	1	0	0.00829132	1	0.0085677	8	85				
KIAA1024	23251	broad.mit.edu	37	15	79749003	79749003	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:79749003G>A	ENST00000305428.3	+	2	589	c.514G>A	c.(514-516)Gcc>Acc	p.A172T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	172						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTTTGTCCCTGCCTCTGAGCC	0.587																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(514-516)Gcc>Acc		KIAA1024							55.0	60.0	58.0					15																	79749003		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749003G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.514G>A	15.37:g.79749003G>A	ENSP00000307461:p.Ala172Thr		Somatic					p.A172T	NM_015206.2	NP_056021.1	WXS	Illumina GAIIx	Phase_I	Q9UPX6	K1024_HUMAN			2	589	+			172					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.514G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	2.502	-0.314977	0.05422	.	.	ENSG00000169330	ENST00000305428	T	0.38240	1.15	5.51	4.59	0.56863	.	0.340226	0.35378	N	0.003253	T	0.29389	0.0732	L	0.41236	1.265	0.25181	N	0.990208	B	0.13594	0.008	B	0.16289	0.015	T	0.13899	-1.0492	9	.	.	.	.	12.8137	0.57652	0.0:0.0:0.6866:0.3134	.	172	Q9UPX6	K1024_HUMAN	T	172	ENSP00000307461:A172T	.	A	+	1	0	KIAA1024	77536058	0.845000	0.29573	0.249000	0.24280	0.740000	0.42216	1.547000	0.36190	1.294000	0.44707	-0.293000	0.09583	GCC		0.587	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		7	108	0	0	0	1	0	7	108				
PCDHGA7	56108	broad.mit.edu	37	5	140762827	140762827	+	Missense_Mutation	SNP	G	G	T	rs375487349		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr5:140762827G>T	ENST00000518325.1	+	1	361	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	121	Cadherin 1. {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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTATAGACGTGGAAATAAT	0.413																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(361-363)Gtg>Ttg									60.0	69.0	66.0					5																	140762827		1992	4196	6188	SO:0001583	missense	56108							g.chr5:140762827G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.361G>T	5.37:g.140762827G>T	ENSP00000430024:p.Val121Leu		Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V121L	NM_018920.2	NP_061743.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	361	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.361G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801682	0.50315	.	.	ENSG00000253537	ENST00000518325	T	0.60424	0.19	5.01	5.01	0.66863	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.72938	0.3523	M	0.70595	2.14	0.32505	N	0.538394	P;D	0.63880	0.542;0.993	B;P	0.59889	0.329;0.865	T	0.78336	-0.2243	9	0.49607	T	0.09	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	121;121	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	121	ENSP00000430024:V121L	ENSP00000430024:V121L	V	+	1	0	PCDHGA7	140743011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.684000	0.68197	2.475000	0.83589	0.655000	0.94253	GTG		0.413	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	188	1	0	1.024e-07	1	1.13371e-07	5	188				
ABCA7	10347	broad.mit.edu	37	19	1062196	1062196	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:1062196C>T	ENST00000263094.6	+	42	5827	c.5596C>T	c.(5596-5598)Cac>Tac	p.H1866Y	ABCA7_ENST00000433129.1_Missense_Mutation_p.H1866Y|ABCA7_ENST00000435683.2_Missense_Mutation_p.H1728Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1866	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGCTGCGCACCTCAGCAT	0.667																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(5596-5598)Cac>Tac		ATP-binding cassette, sub-family A (ABC1), member 7							92.0	101.0	98.0					19																	1062196		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1062196C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5596C>T	19.37:g.1062196C>T	ENSP00000263094:p.His1866Tyr		Somatic				ABCA7_ENST00000435683.2_Missense_Mutation_p.H1728Y|ABCA7_ENST00000433129.1_Missense_Mutation_p.H1866Y	p.H1866Y	NM_019112.3	NP_061985.2	WXS	Illumina GAIIx	Phase_I	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	42	5827	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1866			ABC transporter 2.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.5596C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438494	0.25900	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.93811	-3.29;-3.29	3.61	1.4	0.22301	ATPase, AAA+ type, core (1);ABC transporter-like (2);	.	.	.	.	D	0.89938	0.6860	N	0.03238	-0.38	0.09310	N	1	D;P	0.56968	0.978;0.723	D;P	0.69142	0.962;0.489	T	0.81724	-0.0802	9	0.87932	D	0	.	8.5235	0.33291	0.0:0.7992:0.0:0.2008	.	991;1866	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	Y	1866	ENSP00000263094:H1866Y;ENSP00000414062:H1866Y	ENSP00000263094:H1866Y	H	+	1	0	ABCA7	1013196	0.173000	0.23056	0.211000	0.23655	0.009000	0.06853	1.559000	0.36320	0.228000	0.21019	-0.266000	0.10368	CAC		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		13	58	0	0	0	1	0	13	58				
PSG7	5676	broad.mit.edu	37	19	43433624	43433624	+	RNA	SNP	G	G	A	rs376395338		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:43433624G>A	ENST00000406070.2	-	0	775				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)				GGGTCACTGCGGCTGGCACTC	0.527													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19633	0.0		0.0	False		,,,				2504	0.0					ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		G	CYS/ARG,CYS/ARG	1,4401		0,1,2200	224.0	241.0	235.0		313,679	-0.2	0.0	19		235	0,8592		0,0,4296	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	180,180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	105/298,227/420	43433624	1,12993	2201	4296	6497			5676				female pregnancy	extracellular region		g.chr19:43433624G>A			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.43433624G>A			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	775	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.527	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		13	816	0	0	0	1	0	13	816				
MARK2	2011	broad.mit.edu	37	11	63667482	63667482	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:63667482G>A	ENST00000509502.2	+	8	1032	c.569G>A	c.(568-570)gGc>gAc	p.G190D	MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D|MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000402010.2_Missense_Mutation_p.G223D	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTTCCAGGGCAAAAAATAT	0.502																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(667-669)gGc>gAc		MAP/microtubule affinity-regulating kinase 2							129.0	138.0	135.0					11																	63667482		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63667482G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.569G>A	11.37:g.63667482G>A	ENSP00000423974:p.Gly190Asp		Somatic				MARK2_ENST00000377809.4_Missense_Mutation_p.G223D|MARK2_ENST00000502399.3_Missense_Mutation_p.G223D|MARK2_ENST00000408948.3_Missense_Mutation_p.G190D|MARK2_ENST00000513765.2_Missense_Mutation_p.G190D|MARK2_ENST00000350490.7_Missense_Mutation_p.G223D|MARK2_ENST00000377810.3_Missense_Mutation_p.G190D|MARK2_ENST00000315032.8_Missense_Mutation_p.G223D|MARK2_ENST00000361128.5_Missense_Mutation_p.G223D|MARK2_ENST00000509502.2_Missense_Mutation_p.G190D|MARK2_ENST00000425897.2_Missense_Mutation_p.G190D|MARK2_ENST00000508192.1_Missense_Mutation_p.G223D|MARK2_ENST00000413835.2_Missense_Mutation_p.G223D	p.G223D	NM_001039469.2	NP_001034558.2	WXS	Illumina GAIIx	Phase_I	Q7KZI7	MARK2_HUMAN			8	1247	+			223			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.668G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	33	5.251318	0.95305	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057355	0.64402	D	0.000001	T	0.54175	0.1842	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.99;1.0	D;D;D;D;P;D	0.91635	0.998;0.997;0.918;0.999;0.895;0.999	T	0.53180	-0.8475	10	0.87932	D	0	.	18.2974	0.90151	0.0:0.0:1.0:0.0	.	190;190;223;223;223;223	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	D	223;223;223;223;190;223;223;223;223;190;190;190;190	ENSP00000385751:G223D;ENSP00000326632:G223D;ENSP00000367040:G223D;ENSP00000389184:G223D;ENSP00000367041:G190D;ENSP00000425765:G223D;ENSP00000355091:G223D;ENSP00000294247:G223D;ENSP00000423974:G190D;ENSP00000421075:G190D;ENSP00000386128:G190D;ENSP00000415494:G190D	ENSP00000326632:G223D	G	+	2	0	MARK2	63424058	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.654000	0.98509	2.853000	0.98044	0.645000	0.84053	GGC		0.502	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		6	409	0	0	0	1	0	6	409				
TMEM57	55219	broad.mit.edu	37	1	25784983	25784983	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:25784983T>A	ENST00000374343.4	+	6	933	c.754T>A	c.(754-756)Tac>Aac	p.Y252N	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	252					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGATAGAATACCGAGAAAA	0.378																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(754-756)Tac>Aac		transmembrane protein 57							110.0	116.0	114.0					1																	25784983		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25784983T>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.754T>A	1.37:g.25784983T>A	ENSP00000363463:p.Tyr252Asn		Somatic				TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR	p.Y252N	NM_018202.4	NP_060672.2	WXS	Illumina GAIIx	Phase_I	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	6	933	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	252					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.754T>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868140	0.72065	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.78	5.78	0.91487	.	0.053861	0.85682	D	0.000000	T	0.61173	0.2326	L	0.57536	1.79	0.80722	D	1	P	0.51791	0.948	P	0.49192	0.602	T	0.58289	-0.7662	9	0.22109	T	0.4	-9.3307	15.2958	0.73906	0.0:0.0:0.0:1.0	.	252	Q8N5G2	MACOI_HUMAN	N	252	.	ENSP00000363463:Y252N	Y	+	1	0	TMEM57	25657570	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.673000	0.83973	2.200000	0.70718	0.460000	0.39030	TAC		0.378	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		4	115	0	0	0	1	0	4	115				
ARHGAP12	94134	broad.mit.edu	37	10	32132516	32132516	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr10:32132516T>A	ENST00000344936.2	-	7	1405		c.e7-2		ARHGAP12_ENST00000396144.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site|ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000375250.5_Splice_Site	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGCATTATACTAAAACAAAAC	0.363																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.e7-2		Rho GTPase activating protein 12							49.0	49.0	49.0					10																	32132516		2202	4300	6502	SO:0001630	splice_region_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32132516T>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1171-2A>T	10.37:g.32132516T>A			Somatic				ARHGAP12_ENST00000311380.4_Splice_Site|ARHGAP12_ENST00000375245.4_Splice_Site|ARHGAP12_ENST00000344936.2_Splice_Site|ARHGAP12_ENST00000396144.4_Splice_Site		NM_001270696.1	NP_001257625.1	WXS	Illumina GAIIx	Phase_I	Q8IWW6	RHG12_HUMAN			7	1412	-		Prostate(175;0.0199)						B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Splice_Site	SNP	ENST00000344936.2	37		CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948735	0.53186	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245;ENST00000454919	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0236	0.71650	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP12	32172522	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	4.936000	0.63506	1.947000	0.56498	0.460000	0.39030	.		0.363	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		Intron	5	57	0	0	0	1	0	5	57				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	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		Somatic				C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y	p.N174Y			WXS	Illumina GAIIx	Phase_I	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		6	162	0	0	0	1	0	6	162				
MUC16	94025	broad.mit.edu	37	19	9008347	9008347	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:9008347T>A	ENST00000397910.4	-	41	39410		c.e41-2			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TTCTCAGACCTGGGGAAGGTA	0.537																																						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.e41-2		mucin 16, cell surface associated							90.0	81.0	84.0					19																	9008347		1918	4134	6052	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9008347T>A	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.39207-2A>T	19.37:g.9008347T>A			Somatic						NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			41	39410	-								Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37		CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.781	0.328463	0.10956	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0549	0.19807	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC16	8869347	0.941000	0.31946	0.022000	0.16811	0.012000	0.07955	4.164000	0.58190	1.179000	0.42884	0.164000	0.16699	.		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Intron	9	602	0	0	0	1	0	9	602				
TRUB2	26995	broad.mit.edu	37	9	131072107	131072107	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:131072107G>A	ENST00000372890.4	-	8	1051	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	TRUB2_ENST00000546104.1_Missense_Mutation_p.H184Y|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	240					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCGATTTCATGAACCAACTTC	0.572																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(718-720)Cat>Tat		TruB pseudouridine (psi) synthase family member 2							127.0	103.0	111.0					9																	131072107		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131072107G>A	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.718C>T	9.37:g.131072107G>A	ENSP00000361982:p.His240Tyr		Somatic				TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Missense_Mutation_p.H184Y	p.H240Y	NM_015679.1	NP_056494.1	WXS	Illumina GAIIx	Phase_I	O95900	TRUB2_HUMAN			8	1051	-			240					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.718C>T	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797976	0.70567	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.14144	2.53;2.53	5.56	5.56	0.83823	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01195	-1.1422	10	0.36615	T	0.2	-19.6386	19.5251	0.95201	0.0:0.0:1.0:0.0	.	240	O95900	TRUB2_HUMAN	Y	240;184	ENSP00000361982:H240Y;ENSP00000438084:H184Y	ENSP00000361982:H240Y	H	-	1	0	TRUB2	130111928	1.000000	0.71417	0.998000	0.56505	0.130000	0.20726	8.560000	0.90712	2.613000	0.88420	0.561000	0.74099	CAT		0.572	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		8	83	0	0	0	1	0	8	83				
MED27	9442	broad.mit.edu	37	9	134889767	134889767	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:134889767G>A	ENST00000292035.5	-	3	499	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MED27_ENST00000357028.2_Missense_Mutation_p.R146C	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTTGGTCTACGTTTGGCAGAT	0.428																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(436-438)Cgt>Tgt		mediator complex subunit 27							147.0	124.0	132.0					9																	134889767		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134889767G>A	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.436C>T	9.37:g.134889767G>A	ENSP00000292035:p.Arg146Cys		Somatic				MED27_ENST00000357028.2_Missense_Mutation_p.R108C|MED27_ENST00000372184.3_Missense_Mutation_p.R146C	p.R146C	NM_004269.3	NP_004260.2	WXS	Illumina GAIIx	Phase_I	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	3	499	-		Myeloproliferative disorder(178;0.206)	146					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.436C>T	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277354	0.80580	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76575	0.973;0.988;0.799	T	0.79356	-0.1837	9	0.87932	D	0	-23.6762	18.7019	0.91623	0.0:0.0:1.0:0.0	.	146;146;146	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	C	146;108;146	.	ENSP00000292035:R146C	R	-	1	0	MED27	133879588	1.000000	0.71417	0.930000	0.37139	0.995000	0.86356	3.569000	0.53827	2.655000	0.90218	0.462000	0.41574	CGT		0.428	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		16	294	0	0	0	1	0	16	294				
DNAAF1	123872	broad.mit.edu	37	16	84203706	84203706	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:84203706G>A	ENST00000378553.5	+	8	1396	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	424	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCGTCACCTGTGG	0.622																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1270-1272)tcG>tcA		dynein, axonemal, assembly factor 1							61.0	64.0	63.0					16																	84203706		2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203706G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1272G>A	16.37:g.84203706G>A			Somatic				DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron	p.S424S	NM_178452.4	NP_848547.4	WXS	Illumina GAIIx	Phase_I	Q8NEP3	DAAF1_HUMAN			8	1396	+			424			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.1272G>A	CCDS10943.2																																																																																				0.622	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		28	46	0	0	0	1	0	28	46				
NTMT1	28989	broad.mit.edu	37	9	132396435	132396435	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:132396435A>G	ENST00000372486.1	+	3	614	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	NTMT1_ENST00000372483.4_Missense_Mutation_p.M89V|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.M89V|NTMT1_ENST00000482347.1_Start_Codon_SNP_p.M1V|NTMT1_ENST00000372481.3_Missense_Mutation_p.M89V			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	89					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGAGGTGGATATGGTCGACAT	0.582																																						ENST00000372486.1																			0											c.(265-267)Atg>Gtg		N-terminal Xaa-Pro-Lys N-methyltransferase 1							108.0	104.0	105.0					9																	132396435		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132396435A>G	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.265A>G	9.37:g.132396435A>G	ENSP00000361564:p.Met89Val		Somatic				NTMT1_ENST00000372483.4_Missense_Mutation_p.M89V|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.M89V|NTMT1_ENST00000372481.3_Missense_Mutation_p.M89V|NTMT1_ENST00000482347.1_Start_Codon_SNP_p.M1V	p.M89V			WXS	Illumina GAIIx	Phase_I					3	614	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.265A>G	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861616	0.32884	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	4.69	4.69	0.59074	.	0.050011	0.85682	D	0.000000	T	0.14442	0.0349	L	0.37800	1.135	0.50467	D	0.999878	P;B	0.40875	0.731;0.346	B;B	0.31751	0.135;0.133	T	0.07501	-1.0769	10	0.25751	T	0.34	-33.5487	13.1259	0.59354	1.0:0.0:0.0:0.0	.	89;89	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	V	89	ENSP00000361564:M89V;ENSP00000361561:M89V;ENSP00000361559:M89V;ENSP00000361558:M89V	ENSP00000361558:M89V	M	+	1	0	METTL11A	131436256	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	3.262000	0.51538	1.958000	0.56883	0.459000	0.35465	ATG		0.582	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		6	78	0	0	0	1	0	6	78				
MNAT1	4331	broad.mit.edu	37	14	61262989	61262989	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:61262989G>T	ENST00000261245.4	+	2	245	c.144G>T	c.(142-144)gaG>gaT	p.E48D	MNAT1_ENST00000539616.2_Missense_Mutation_p.E48D	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	48					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		ACTGCCCTGAGTGTGGTACTC	0.403								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000261245.4																			0				NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(142-144)gaG>gaT	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	MNAT CDK-activating kinase assembly factor 1							118.0	108.0	111.0					14																	61262989		2203	4300	6503	SO:0001583	missense	4331				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61262989G>T	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.144G>T	14.37:g.61262989G>T	ENSP00000261245:p.Glu48Asp		Somatic				MNAT1_ENST00000539616.2_Missense_Mutation_p.E48D	p.E48D	NM_002431.3	NP_002422.1	WXS	Illumina GAIIx	Phase_I	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	2	245	+			48					G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	c.144G>T	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958762	0.53400	.	.	ENSG00000020426	ENST00000261245;ENST00000539616	T;T	0.48201	0.82;0.85	5.63	0.569	0.17340	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.047799	0.85682	D	0.000000	T	0.42810	0.1219	M	0.80746	2.51	0.38983	D	0.95899	P;P	0.46142	0.873;0.835	B;B	0.39119	0.291;0.199	T	0.49062	-0.8978	10	0.16420	T	0.52	-2.5158	10.2058	0.43112	0.3999:0.0:0.6001:0.0	.	48;48	G3V1U8;P51948	.;MAT1_HUMAN	D	48	ENSP00000261245:E48D;ENSP00000446437:E48D	ENSP00000261245:E48D	E	+	3	2	MNAT1	60332742	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.223000	0.32527	0.116000	0.18110	0.655000	0.94253	GAG		0.403	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		7	181	1	0	0.00198382	1	0.00209178	7	181				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																653390							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	79	0	0	0	1	0	4	79				
KAT2A	2648	broad.mit.edu	37	17	40266956	40266956	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:40266956C>T	ENST00000225916.5	-	13	2026	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	658					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAGGGGATGCGGGGATTCAG	0.552																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1972-1974)cGc>cAc		K(lysine) acetyltransferase 2A							309.0	269.0	282.0					17																	40266956		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40266956C>T	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1973G>A	17.37:g.40266956C>T	ENSP00000225916:p.Arg658His		Somatic					p.R658H	NM_021078.2	NP_066564.2	WXS	Illumina GAIIx	Phase_I	Q92830	KAT2A_HUMAN			13	2026	-			658					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.1973G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183065	0.78677	.	.	ENSG00000108773	ENST00000225916	T	0.05513	3.43	5.09	5.09	0.68999	Acyl-CoA N-acyltransferase (2);	0.142348	0.52532	D	0.000063	T	0.15652	0.0377	M	0.87097	2.86	0.80722	D	1	B	0.18013	0.025	B	0.08055	0.003	T	0.03268	-1.1054	10	0.62326	D	0.03	-19.725	18.4939	0.90856	0.0:1.0:0.0:0.0	.	658	Q92830	KAT2A_HUMAN	H	658	ENSP00000225916:R658H	ENSP00000225916:R658H	R	-	2	0	KAT2A	37520482	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.797000	0.85911	2.366000	0.80165	0.561000	0.74099	CGC		0.552	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		5	177	0	0	0	1	0	5	177				
LIAS	11019	broad.mit.edu	37	4	39469185	39469185	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:39469185A>C	ENST00000513731.1	+	3	318	c.266A>C	c.(265-267)gAt>gCt	p.D89A	LIAS_ENST00000381846.1_Intron|LIAS_ENST00000340169.2_Missense_Mutation_p.D219A|LIAS_ENST00000261434.3_Missense_Mutation_p.D219A					lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TTTCGAGGTGATCTCAAAGCA	0.388																																						ENST00000261434.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(655-657)gAt>gCt		lipoic acid synthetase	Lipoic Acid(DB00166)						143.0	139.0	140.0					4																	39469185		2203	4300	6503	SO:0001583	missense	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39469185A>C	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000513731.1:c.266A>C	4.37:g.39469185A>C	ENSP00000425580:p.Asp89Ala		Somatic				LIAS_ENST00000340169.2_Missense_Mutation_p.D219A|LIAS_ENST00000381846.1_Intron|LIAS_ENST00000513731.1_Missense_Mutation_p.D89A	p.D219A	NM_006859.2	NP_006850.2	WXS	Illumina GAIIx	Phase_I	O43766	LIAS_HUMAN			7	774	+			219						Missense_Mutation	SNP	ENST00000513731.1	37	c.656A>C		.	.	.	.	.	.	.	.	.	.	A	18.98	3.738163	0.69304	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731	D;D;D	0.82433	-1.61;-1.61;-1.61	5.89	5.89	0.94794	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.042859	0.85682	D	0.000000	D	0.88883	0.6558	M	0.83312	2.635	0.80722	D	1	P;P	0.47762	0.9;0.664	P;P	0.51615	0.675;0.595	D	0.90014	0.4123	10	0.59425	D	0.04	-20.0957	15.4894	0.75593	1.0:0.0:0.0:0.0	.	89;219	D6RCP8;O43766	.;LIAS_HUMAN	A	219;219;89	ENSP00000340676:D219A;ENSP00000261434:D219A;ENSP00000425580:D89A	ENSP00000261434:D219A	D	+	2	0	LIAS	39145580	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	8.821000	0.92009	2.250000	0.74265	0.455000	0.32223	GAT		0.388	LIAS-006	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000361037.1	NM_194451		62	138	0	0	0	1	0	62	138				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr		Somatic				FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T			WXS	Illumina GAIIx	Phase_I					5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	112	0	0	0	1	0	5	112				
RALA	5898	broad.mit.edu	37	7	39729979	39729979	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:39729979A>T	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TATCTTTTCTAGTTTGTGGAG	0.358																																						ENST00000005257.2																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						c.e3-1		v-ral simian leukemia viral oncogene homolog A (ras related)							54.0	59.0	57.0					7																	39729979		2203	4300	6503	SO:0001630	splice_region_variant	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39729979A>T		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.115-1A>T	7.37:g.39729979A>T			Somatic				RALA_ENST00000468201.1_Intron		NM_005402.3	NP_005393.2	WXS	Illumina GAIIx	Phase_I	P11233	RALA_HUMAN			3	494	+								A4D1W3	Splice_Site	SNP	ENST00000005257.2	37		CCDS5460.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013888	0.75161	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6906	0.69083	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALA	39696504	1.000000	0.71417	0.934000	0.37439	0.945000	0.59286	9.087000	0.94110	2.059000	0.61396	0.379000	0.24179	.		0.358	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	Intron	6	104	0	0	0	1	0	6	104				
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.G41R(1)	kidney(1)																	42.0	30.0	34.0					20																	26084295		692	1590	2282			149934							g.chr20:26084295C>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084295C>T			Somatic						NR_003678.1		WXS	Illumina GAIIx	Phase_I					0	162	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.373	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			4	170	0	0	0	1	0	4	170				
ITGB4	3691	broad.mit.edu	37	17	73739891	73739891	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:73739891G>A	ENST00000200181.3	+	26	3247	c.3060G>A	c.(3058-3060)ggG>ggA	p.G1020G	ITGB4_ENST00000579662.1_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000450894.3_Silent_p.G1020G	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1020	Calx-beta.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGACGGCGGGAAGTCCCAGG	0.701																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3058-3060)ggG>ggA		integrin, beta 4							45.0	35.0	38.0					17																	73739891		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73739891G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3060G>A	17.37:g.73739891G>A			Somatic				ITGB4_ENST00000339591.3_Silent_p.G1020G|ITGB4_ENST00000450894.3_Silent_p.G1020G|ITGB4_ENST00000449880.2_Silent_p.G1020G|ITGB4_ENST00000579662.1_Silent_p.G1020G	p.G1020G	NM_000213.3	NP_000204.3	WXS	Illumina GAIIx	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	3247	+	all_cancers(13;1.5e-07)		1020			Calx-beta.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.3060G>A	CCDS11727.1																																																																																				0.701	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			5	3	0	0	0	1	0	5	3				
USP36	57602	broad.mit.edu	37	17	76799622	76799622	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr17:76799622G>A	ENST00000542802.3	-	16	3098	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	USP36_ENST00000449938.2_Silent_p.V490V|USP36_ENST00000312010.6_Silent_p.V885V			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	885					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCTGCCGTCTGACAGCGGGCA	0.657																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2653-2655)gtC>gtT		ubiquitin specific peptidase 36							101.0	84.0	90.0					17																	76799622		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799622G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2655C>T	17.37:g.76799622G>A			Somatic				USP36_ENST00000542802.2_Silent_p.V885V|USP36_ENST00000449938.2_Silent_p.V490V	p.V885V	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2979	-			885					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.2655C>T	CCDS32755.1																																																																																				0.657	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		5	48	0	0	0	1	0	5	48				
TTC16	158248	broad.mit.edu	37	9	130488637	130488637	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:130488637G>A	ENST00000373289.3	+	10	1459	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	PTRH1_ENST00000419060.1_5'Flank|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	460										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TTTGGGGCCCGCCAGGATGTG	0.607																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1378-1380)cGc>cAc		tetratricopeptide repeat domain 16							44.0	50.0	48.0					9																	130488637		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130488637G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.1379G>A	9.37:g.130488637G>A	ENSP00000362386:p.Arg460His		Somatic				TTC16_ENST00000489226.1_3'UTR	p.R460H	NM_144965.1	NP_659402.1	WXS	Illumina GAIIx	Phase_I	Q8NEE8	TTC16_HUMAN			10	1459	+			460					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.1379G>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014774	0.35511	.	.	ENSG00000167094	ENST00000373289;ENST00000373288;ENST00000316259	T	0.63417	-0.04	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.52532	D	0.000062	T	0.57344	0.2047	M	0.63843	1.955	0.80722	D	1	B;B	0.26445	0.149;0.149	B;B	0.17433	0.018;0.018	T	0.58831	-0.7567	10	0.54805	T	0.06	-24.591	11.1863	0.48657	0.0849:0.0:0.9151:0.0	.	447;460	B4DZ42;Q8NEE8	.;TTC16_HUMAN	H	460;238;357	ENSP00000362386:R460H	ENSP00000319048:R357H	R	+	2	0	TTC16	129528458	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.080000	0.50112	2.502000	0.84385	0.400000	0.26472	CGC		0.607	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		2	5	0	0	0	1	0	2	5				
TTF1	7270	broad.mit.edu	37	9	135278059	135278059	+	Silent	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:135278059A>T	ENST00000334270.2	-	2	189	c.150T>A	c.(148-150)acT>acA	p.T50T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	50	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTCCTCCTAGTTATTTGAG	0.378																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(148-150)acT>acA		transcription termination factor, RNA polymerase I							80.0	82.0	81.0					9																	135278059		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135278059A>T	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.150T>A	9.37:g.135278059A>T			Somatic					p.T50T	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	189	-		Myeloproliferative disorder(178;0.204)	50			N-terminal region (NRD) (By similarity).		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.150T>A	CCDS6948.1																																																																																				0.378	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		5	187	0	0	0	1	0	5	187				
ARHGAP35	2909	broad.mit.edu	37	19	47422422	47422422	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:47422422A>T	ENST00000404338.3	+	1	490	c.490A>T	c.(490-492)Att>Ttt	p.I164F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	164					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TCTTCTTGGTATTGATGTTAG	0.448																																						ENST00000404338.3																			0											c.(490-492)Att>Ttt		Rho GTPase activating protein 35							106.0	97.0	100.0					19																	47422422		1921	4142	6063	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422422A>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.490A>T	19.37:g.47422422A>T	ENSP00000385720:p.Ile164Phe		Somatic					p.I164F	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	490	+			164					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.490A>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	1.107	-0.659292	0.03454	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.79554	-1.28	5.9	3.8	0.43715	.	0.160734	0.53938	D	0.000045	T	0.62514	0.2434	N	0.20986	0.625	0.46725	D	0.999175	B	0.19706	0.038	B	0.17098	0.017	T	0.53711	-0.8400	10	0.05436	T	0.98	-19.1425	9.3527	0.38149	0.8511:0.0:0.1489:0.0	.	164	Q9NRY4-2	.	F	164	ENSP00000385720:I164F	ENSP00000324820:I164F	I	+	1	0	ARHGAP35	52114262	0.975000	0.34042	0.892000	0.35008	0.719000	0.41307	2.054000	0.41335	1.030000	0.39839	0.533000	0.62120	ATT		0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		5	136	0	0	0	1	0	5	136				
CDHR1	92211	broad.mit.edu	37	10	85974275	85974275	+	Silent	SNP	G	G	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr10:85974275G>A	ENST00000372117.3	+	17	2581	c.2478G>A	c.(2476-2478)ccG>ccA	p.P826P	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Silent_p.P530P	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	826	Pro-rich.				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)	p.P826P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCAACCCCCGCCAAAACCCA	0.582																																						ENST00000372117.3																			1	Substitution - coding silent(1)	p.P826P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2476-2478)ccG>ccA		cadherin-related family member 1							69.0	82.0	78.0					10																	85974275		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974275G>A	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.2478G>A	10.37:g.85974275G>A			Somatic				CDHR1_ENST00000440770.2_Silent_p.P530P|CDHR1_ENST00000332904.3_Intron	p.P826P	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			17	2581	+			826			Pro-rich.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.2478G>A	CCDS7372.1																																																																																				0.582	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		4	85	0	0	0	1	0	4	85				
MAGEA10	4109	broad.mit.edu	37	X	151303884	151303884	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:151303884G>C	ENST00000370323.4	-	4	525	c.209C>G	c.(208-210)aCc>aGc	p.T70S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.T70S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	70						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTGGGGTGCTTGGTAT	0.532																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(208-210)aCc>aGc		melanoma antigen family A, 10							97.0	101.0	99.0					X																	151303884		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303884G>C		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.209C>G	X.37:g.151303884G>C	ENSP00000359347:p.Thr70Ser		Somatic				MAGEA10_ENST00000244096.3_Missense_Mutation_p.T70S|RP11-1007I13.4_ENST00000509345.2_RNA	p.T70S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	WXS	Illumina GAIIx	Phase_I	P43363	MAGAA_HUMAN			4	525	-	Acute lymphoblastic leukemia(192;6.56e-05)		70						Missense_Mutation	SNP	ENST00000370323.4	37	c.209C>G	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560203	0.13498	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	2.08	-0.116	0.13555	Melanoma associated antigen, MAGE, N-terminal (1);	1.599500	0.03911	N	0.281938	T	0.07773	0.0195	L	0.54908	1.71	0.09310	N	1	P	0.42123	0.771	B	0.41135	0.348	T	0.35025	-0.9805	10	0.18710	T	0.47	.	3.9992	0.09572	0.0:0.2578:0.4772:0.265	.	70	P43363	MAGAA_HUMAN	S	70	ENSP00000359347:T70S;ENSP00000244096:T70S;ENSP00000406161:T70S;ENSP00000391977:T70S	ENSP00000244096:T70S	T	-	2	0	MAGEA10	151054540	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	-0.317000	0.08060	-0.096000	0.12329	0.287000	0.19450	ACC		0.532	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		15	141	0	0	0	1	0	15	141				
PLA2G4C	8605	broad.mit.edu	37	19	48607854	48607854	+	Missense_Mutation	SNP	C	C	A	rs374191136		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:48607854C>A	ENST00000599921.1	-	4	605	c.248G>T	c.(247-249)gGa>gTa	p.G83V	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G93V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G83V|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G83V			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	83	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCAAGTGGATCCAGAGACCCC	0.498																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(247-249)gGa>gTa		phospholipase A2, group IVC (cytosolic, calcium-independent)		C	VAL/GLY,VAL/GLY,VAL/GLY	0,4406		0,0,2203	134.0	118.0	123.0		278,248,248	3.4	0.1	19		123	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	109,109,109	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	93/552,83/528,83/542	48607854	1,13005	2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48607854C>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.248G>T	19.37:g.48607854C>A	ENSP00000469473:p.Gly83Val		Somatic				PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G93V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G83V|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G83V	p.G83V	NM_001159323.1	NP_001152795.1	WXS	Illumina GAIIx	Phase_I	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	4	575	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	83			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.248G>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322136	0.23994	0.0	1.16E-4	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.51325	0.71;0.71	3.37	3.37	0.38596	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.71796	0.3382	M	0.91354	3.2	0.28277	N	0.924147	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.67929	-0.5543	10	0.87932	D	0	-10.7575	10.6005	0.45365	0.0:1.0:0.0:0.0	.	93;83;83	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	V	83	ENSP00000346228:G83V;ENSP00000400036:G83V	ENSP00000346228:G83V	G	-	2	0	PLA2G4C	53299666	0.946000	0.32159	0.097000	0.21041	0.144000	0.21451	3.594000	0.54008	1.590000	0.49995	0.404000	0.27445	GGA		0.498	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			41	294	1	0	1.42923e-14	1	1.64096e-14	41	294				
FOS	2353	broad.mit.edu	37	14	75746590	75746590	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:75746590C>T	ENST00000303562.4	+	2	361	c.152C>T	c.(151-153)aCg>aTg	p.T51M	FOS_ENST00000555242.1_Missense_Mutation_p.T51M|FOS_ENST00000535987.1_Missense_Mutation_p.T51M|FOS_ENST00000554617.1_Missense_Mutation_p.T51M|FOS_ENST00000555347.1_5'Flank|FOS_ENST00000555686.1_5'UTR	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	51					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	GACTTCTGCACGGACCTGGCC	0.622																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(151-153)aCg>aTg		FBJ murine osteosarcoma viral oncogene homolog							120.0	116.0	117.0					14																	75746590		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75746590C>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.152C>T	14.37:g.75746590C>T	ENSP00000306245:p.Thr51Met		Somatic				FOS_ENST00000555686.1_5'UTR|FOS_ENST00000555242.1_Missense_Mutation_p.T51M|FOS_ENST00000535987.1_Missense_Mutation_p.T51M|FOS_ENST00000554617.1_Missense_Mutation_p.T51M	p.T51M	NM_005252.3	NP_005243.1	WXS	Illumina GAIIx	Phase_I	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	2	361	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	51					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.152C>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978237	0.74360	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000535987;ENST00000555242	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.95	5.04	0.67666	.	0.674555	0.15145	N	0.278027	T	0.54951	0.1890	M	0.76002	2.32	0.80722	D	1	P;P	0.51057	0.941;0.521	P;B	0.44673	0.457;0.103	T	0.60855	-0.7180	10	0.59425	D	0.04	0.0369	15.0884	0.72174	0.0:0.7314:0.2685:0.0	.	51;51	B4DQ65;P01100	.;FOS_HUMAN	M	51	ENSP00000306245:T51M;ENSP00000450519:T51M;ENSP00000442268:T51M;ENSP00000452386:T51M	ENSP00000306245:T51M	T	+	2	0	FOS	74816343	0.338000	0.24775	0.271000	0.24616	0.966000	0.64601	1.941000	0.40233	1.479000	0.48272	0.563000	0.77884	ACG		0.622	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		3	135	0	0	0	1	0	3	135				
PTPDC1	138639	broad.mit.edu	37	9	96857597	96857597	+	Splice_Site	SNP	A	A	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:96857597A>T	ENST00000375360.3	+	6	794		c.e6-1		PTPDC1_ENST00000288976.3_Splice_Site	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1						cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTTTTCCTAGTTTACTTCT	0.358																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.e6-1		protein tyrosine phosphatase domain containing 1							115.0	119.0	118.0					9																	96857597		2203	4300	6503	SO:0001630	splice_region_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96857597A>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.455-1A>T	9.37:g.96857597A>T			Somatic				PTPDC1_ENST00000288976.3_Splice_Site		NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	WXS	Illumina GAIIx	Phase_I	A2A3K4	PTPC1_HUMAN			6	794	+								Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Splice_Site	SNP	ENST00000375360.3	37		CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280073	0.40294	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7685	0.69657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPDC1	95897418	1.000000	0.71417	0.970000	0.41538	0.219000	0.24729	8.696000	0.91302	2.221000	0.72209	0.528000	0.53228	.		0.358	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	Intron	8	216	0	0	0	1	0	8	216				
FRRS1L	23732	broad.mit.edu	37	9	111899895	111899895	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr9:111899895C>T	ENST00000561981.2	-	5	874	c.875G>A	c.(874-876)cGa>cAa	p.R292Q		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	292						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TATATCATGTCGAGTGATAGA	0.378																																						ENST00000374581.3																			0											c.(874-876)cGa>cAa		ferric-chelate reductase 1-like							100.0	105.0	104.0					9																	111899895		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111899895C>T	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.875G>A	9.37:g.111899895C>T	ENSP00000477141:p.Arg292Gln		Somatic					p.R292Q	NM_014334.2	NP_055149.2	WXS	Illumina GAIIx	Phase_I	Q9P0K9	CI004_HUMAN			5	874	-			292					Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.875G>A	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125125	0.77436	.	.	ENSG00000136805	ENST00000374581	.	.	.	5.65	5.65	0.86999	DOMON domain (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.65894	-0.6057	9	0.41790	T	0.15	-2.1694	19.7357	0.96202	0.0:1.0:0.0:0.0	.	292	Q9P0K9	CI004_HUMAN	Q	292	.	ENSP00000363709:R292Q	R	-	2	0	C9orf4	110939716	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.487000	0.81328	2.662000	0.90505	0.563000	0.77884	CGA		0.378	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		23	180	0	0	0	1	0	23	180				
DSP	1832	broad.mit.edu	37	6	7568820	7568820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:7568820C>T	ENST00000379802.3	+	11	1758	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q473*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	473	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAAACAAGATCAGGTGTGTAC	0.358																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1417-1419)Cag>Tag		desmoplakin							105.0	103.0	103.0					6																	7568820		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7568820C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1417C>T	6.37:g.7568820C>T	ENSP00000369129:p.Gln473*		Somatic				DSP_ENST00000418664.2_Nonsense_Mutation_p.Q473*	p.Q473*	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	11	1758	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	473			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.1417C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	41	8.880820	0.98988	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.9	5.9	0.94986	.	0.106336	0.42420	D	0.000702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	473;473;278	.	ENSP00000369129:Q473X	Q	+	1	0	DSP	7513819	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.999000	0.70665	2.788000	0.95919	0.650000	0.86243	CAG		0.358	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		75	68	0	0	0	1	0	75	68				
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.e4-2		ELOVL fatty acid elongase 5							76.0	68.0	71.0					6																	53141056		2203	4300	6503	SO:0001630	splice_region_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53141056T>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.247-2A>T	6.37:g.53141056T>A			Somatic				ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NYP7	ELOV5_HUMAN			4	694	-	Lung NSC(77;0.116)							B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Splice_Site	SNP	ENST00000542638.1	37		CCDS4951.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380292	0.82682	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELOVL5	53249015	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.342000	0.79310	2.302000	0.77476	0.533000	0.62120	.		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	Intron	4	79	0	0	0	1	0	4	79				
FAM9A	171482	broad.mit.edu	37	X	8767075	8767075	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chrX:8767075C>A	ENST00000543214.1	-	3	287	c.152G>T	c.(151-153)cGc>cTc	p.R51L	FAM9A_ENST00000381003.3_Missense_Mutation_p.R51L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	51						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTTCCTGCTGCGCTTCCTGCC	0.557																																						ENST00000543214.1																			0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(151-153)cGc>cTc		family with sequence similarity 9, member A							95.0	68.0	77.0					X																	8767075		2203	4298	6501	SO:0001583	missense	171482					nucleolus		g.chrX:8767075C>A		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.152G>T	X.37:g.8767075C>A	ENSP00000440163:p.Arg51Leu		Somatic				FAM9A_ENST00000381003.3_Missense_Mutation_p.R51L	p.R51L	NM_001171186.1	NP_001164657.1	WXS	Illumina GAIIx	Phase_I	Q8IZU1	FAM9A_HUMAN			3	287	-		Hepatocellular(5;0.219)	51					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.152G>T	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	c	5.876	0.345801	0.11126	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.439	-0.879	0.10613	.	.	.	.	.	T	0.09512	0.0234	N	0.14661	0.345	0.09310	N	1	P	0.46327	0.876	B	0.33295	0.161	T	0.17471	-1.0368	7	0.39692	T	0.17	.	.	.	.	.	51	Q8IZU1	FAM9A_HUMAN	L	51	.	ENSP00000370391:R51L	R	-	2	0	FAM9A	8727075	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	-0.316000	0.08071	-0.732000	0.04856	-0.748000	0.03510	CGC		0.557	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		10	40	1	0	0.000442599	1	0.000469883	10	40				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A			Somatic				FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	4	81	0	0	0	1	0	4	81				
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-267)ttccccfs	p.FP88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.FP88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.FP88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(262-264)tccfs		ring finger protein 220																																				SO:0001589	frameshift_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878032_44878033insC	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.269dupC	1.37:g.44878038_44878038dupC	ENSP00000347548:p.Phe88fs		Somatic				RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs	p.S88fs			WXS	Illumina GAIIx	Phase_I	Q5VTB9	RN220_HUMAN			2	713_714	+			88					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Frame_Shift_Ins	INS	ENST00000355387.2	37	c.263_264insC	CCDS510.1																																																																																				0.515	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		7	479						7	479	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	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		11	230						11	230	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G	rs368823178		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)ccgfs	p.P430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|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 phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGACGATCAACGGGGGGGCCAC	0.54			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1288-1290)cttfs		Janus kinase 1																																				SO:0001589	frameshift_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65325832_65325833insG	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1290dupC	1.37:g.65325839_65325839dupG	ENSP00000343204:p.Pro430fs		Somatic					p.L430fs	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	9	1537_1538	-			430					Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	ENST00000342505.4	37	c.1289_1290insC	CCDS41346.1																																																																																				0.540	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		8	173						8	173	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		26	338						26	338	---	---	---	---
TXNIP	10628	broad.mit.edu	37	1	145440062	145440064	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:145440062_145440064delAAG	ENST00000369317.4	+	4	830_832	c.496_498delAAG	c.(496-498)aagdel	p.K167del	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	167					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAAAAAGAAAAGAAAGTTTCCT	0.414																																						ENST00000369317.4																			1	Substitution - Missense(1)	p.K166R(1)	ovary(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(496-498)del		thioredoxin interacting protein																																				SO:0001651	inframe_deletion	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440062_145440064delAAG	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.496_498delAAG	1.37:g.145440062_145440064delAAG	ENSP00000358323:p.Lys167del		Somatic				TXNIP_ENST00000475171.1_Intron	p.K167del	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	Q9H3M7	TXNIP_HUMAN			4	830_832	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		167					B4E3D3|Q16226|Q6PML0|Q9BXG9	In_Frame_Del	DEL	ENST00000369317.4	37	c.496_498delAAG	CCDS913.1																																																																																				0.414	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		16	402						16	402	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		15	209						15	209	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	600					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)					TTGTGGCCCCTGGGGGGGCCTT	0.663																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1795-1800)ccggggfs		protein inhibitor of activated STAT, 3				11,4249		0,11,2119						4.1	1.0			46	12,8224		0,12,4106	no	frameshift	PIAS3	NM_006099.3		0,23,6225	A1A1,A1R,RR		0.1457,0.2582,0.1841				23,12473				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.chr1:145585532_145585533insG	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.1804dupG	1.37:g.145585539_145585539dupG	ENSP00000376765:p.Gly600fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	p.PG599fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			14	1887_1888	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		599					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1797_1798insG	CCDS920.2																																																																																				0.663	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		7	109						7	109	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs	p.LG141fs	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	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		13	276						13	276	---	---	---	---
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:154493907_154493908insC	ENST00000368480.3	+	6	406_407	c.321_322insC	c.(322-324)cccfs	p.P108fs	TDRD10_ENST00000368482.4_Frame_Shift_Ins_p.P108fs|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	108							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.52																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(319-324)agccccfs		tudor domain containing 10																																				SO:0001589	frameshift_variant	126668						nucleotide binding|RNA binding	g.chr1:154493907_154493908insC	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.327dupC	1.37:g.154493913_154493913dupC	ENSP00000357465:p.Pro108fs		Somatic				TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	WXS	Illumina GAIIx	Phase_I	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1159_1160	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		107			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Ins	INS	ENST00000368480.3	37	c.321_322insC	CCDS41406.1																																																																																				0.520	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		13	811						13	811	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)catfs	p.H18fs	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.H18fs			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		Somatic				MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs	p.L18fs			WXS	Illumina GAIIx	Phase_I	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		16	202						16	202	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C	rs535534188		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-558)tgccccfs	p.CP185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.45																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(553-555)tccfs		CD1c molecule																																				SO:0001589	frameshift_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262099_158262100insC	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.559dupC	1.37:g.158262104_158262104dupC	ENSP00000357152:p.Cys185fs		Somatic					p.S185fs	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	P29017	CD1C_HUMAN			3	833_834	+	all_hematologic(112;0.0378)		185					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Frame_Shift_Ins	INS	ENST00000368170.3	37	c.554_555insC	CCDS1175.1																																																																																				0.450	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		11	2377						11	2377	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P282fs	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	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		15	1999						15	1999	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)cccaagfs	p.K234fs	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.K234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(697-702)ccagaafs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904586_159904587insG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.700dupC	1.37:g.159904592_159904592dupG	ENSP00000357073:p.Lys234fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	p.E234fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	896_897	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	234			Ig-like 3.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.699_700insC	CCDS44254.1																																																																																				0.569	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		8	307						8	307	---	---	---	---
LOC440700	440700	broad.mit.edu	37	1	165678269	165678269	+	lincRNA	DEL	T	T	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:165678269delT	ENST00000608512.1	-	0	0				RP11-466F5.6_ENST00000400982.2_RNA																							aaaaaaagaaTGTAGCTTATG	0.453																																						ENST00000400982.2																			0																																																			440700							g.chr1:165678269delT																													1.37:g.165678269delT			Somatic						NR_036683.1		WXS	Illumina GAIIx	Phase_I					0	612	+									RNA	DEL	ENST00000608512.1	37																																																																																						0.453	RP11-466F5.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000473144.1			2	4						2	4	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				RCSD1_ENST00000537350.1_Intron	p.S54fs	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	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		9	185						9	185	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	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		12	685						12	685	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511225	169511226	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:169511225_169511226insT	ENST00000367797.3	-	13	3303_3304	c.3102_3103insA	c.(3100-3105)aaagagfs	p.E1035fs	F5_ENST00000367796.3_Frame_Shift_Ins_p.E1040fs	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1035	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTGTGCTTCTCTTTTTTCTTTT	0.391																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3115-3120)aaagaafs		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511225_169511226insT	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3103dupA	1.37:g.169511231_169511231dupT	ENSP00000356771:p.Glu1035fs		Somatic				F5_ENST00000367797.3_Frame_Shift_Ins_p.E1035fs	p.E1040fs			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			13	3318_3319	-	all_hematologic(923;0.208)		1035			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Frame_Shift_Ins	INS	ENST00000367797.3	37	c.3117_3118insA	CCDS1281.1																																																																																				0.391	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	1309						9	1309	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.T1683fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	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			27	529						27	529	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179084038	179084039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:179084038_179084039insG	ENST00000502732.1	-	9	1738_1739	c.1535_1536insC	c.(1534-1536)cctfs	p.P512fs	ABL2_ENST00000408940.3_Frame_Shift_Ins_p.P476fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.P512fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.P491fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.P497fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.P491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.P497fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.P476fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.P491fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	512	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CATAAACCTTAGGGGGGCATCC	0.386			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1534-1536)caafs		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084038_179084039insG	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1536dupC	1.37:g.179084044_179084044dupG	ENSP00000427562:p.Pro512fs		Somatic				ABL2_ENST00000367623.4_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.Q512fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.Q497fs	p.Q512fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			9	1738_1739	-			512			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Ins	INS	ENST00000502732.1	37	c.1535_1536insC	CCDS30947.1																																																																																				0.386	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		7	293						7	293	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186022084	186022085	+	Splice_Site	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:186022084_186022085insC	ENST00000271588.4	+	43	6807_6808	c.6578_6579insC	c.(6577-6582)gtcccc>gtCcccc	p.VP2193fs	HMCN1_ENST00000367492.2_Splice_Site_p.VP2193fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2193					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTTTCTAGTCCCCCCAAATA	0.342																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e43-1		hemicentin 1																																				SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022084_186022085insC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6578-1->C	1.37:g.186022090_186022090dupC			Somatic				HMCN1_ENST00000367492.2_Splice_Site_p.A2193_splice	p.A2193_splice	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			43	6807_6808	+			2193					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	INS	ENST00000271588.4	37	c.6577_splice	CCDS30956.1																																																																																				0.342	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Frame_Shift_Ins	8	207						8	207	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	p.V584fs	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	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		8	462						8	462	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_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		Somatic				ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	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		11	395						11	395	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.G74fs	NM_198447.1	NP_940849.1	WXS	Illumina GAIIx	Phase_I	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		7	605						7	605	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:204924032_204924033insC	ENST00000401399.1	+	6	687_688	c.488_489insC	c.(487-492)aaccccfs	p.NP163fs	NFASC_ENST00000339876.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367172.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.NP163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.NP157fs|NFASC_ENST00000403080.1_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		Somatic				NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs	p.T163fs			WXS	Illumina GAIIx	Phase_I	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		9	769						9	769	---	---	---	---
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C	rs562433962	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.54																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(754-756)gctfs		transmembrane protein 81																																				SO:0001589	frameshift_variant	388730					integral to membrane		g.chr1:205052693_205052694insC	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.756dupG	1.37:g.205052700_205052700dupC	ENSP00000356135:p.Gly252fs		Somatic					p.A252fs	NM_203376.1	NP_976310.1	WXS	Illumina GAIIx	Phase_I	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	951_952	-	all_cancers(21;0.144)|Breast(84;0.0437)		252					Q6UVZ4	Frame_Shift_Ins	INS	ENST00000367167.3	37	c.755_756insG	CCDS1450.1																																																																																				0.540	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		10	158						10	158	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000458541.2_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		Somatic				CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs	p.A206fs	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	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		19	491						19	491	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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)	Somatic				IRF6_ENST00000542854.1_Intron		NM_006147.3	NP_006138.1	WXS	Illumina GAIIx	Phase_I	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	9	244						9	244	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P451fs	NM_014388.6	NP_055203.4	WXS	Illumina GAIIx	Phase_I	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	477						7	477	---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(394-396)cccfs	p.P132fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.P132fs|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	132					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(391-396)aaccccfs		epoxide hydrolase 1, microsomal (xenobiotic)																																				SO:0001589	frameshift_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026383_226026384insC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.400dupC	1.37:g.226026390_226026390dupC	ENSP00000355802:p.Pro132fs		Somatic				EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	p.NP131fs	NM_000120.3	NP_000111.1	WXS	Illumina GAIIx	Phase_I	P07099	HYEP_HUMAN			4	589_590	+	Breast(184;0.197)		131					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Ins	INS	ENST00000366837.4	37	c.393_394insC	CCDS1547.1																																																																																				0.624	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		15	215						15	215	---	---	---	---
LOC100506457	100506457	broad.mit.edu	37	2	12293343	12293351	+	lincRNA	DEL	TTCCTTCCC	TTCCTTCCC	-	rs541148130|rs112549370|rs150770443		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:12293343_12293351delTTCCTTCCC	ENST00000412294.1	+	0	197																											cttcattcctttccttcccttccttccct	0.426																																						ENST00000412294.1																			0																																																			100506457							g.chr2:12293343_12293351delTTCCTTCCC																													2.37:g.12293352_12293360delTTCCTTCCC			Somatic								WXS	Illumina GAIIx	Phase_I					0	197	+									RNA	DEL	ENST00000412294.1	37																																																																																						0.426	AC096559.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323583.2			4	3						4	3	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)ccafs	p.P778fs	ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.P750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.P518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.P518fs			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		Somatic				ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs	p.R778fs			WXS	Illumina GAIIx	Phase_I	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		10	131						10	131	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74690034	74690035	+	Frame_Shift_Ins	INS	-	-	G	rs184209905	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:74690034_74690035insG	ENST00000233616.4	-	4	1043_1044	c.881_882insC	c.(880-882)cctfs	p.P294fs	MOGS_ENST00000452063.2_Frame_Shift_Ins_p.P188fs|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'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		Somatic				MOGS_ENST00000452063.2_Frame_Shift_Ins_p.R188fs|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR	p.R294fs	NM_006302.2	NP_006293.2	WXS	Illumina GAIIx	Phase_I	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		13	267						13	267	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	p.LG320fs	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	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		9	325						9	325	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs|MYO3B_ENST00000602629.1_3'UTR|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		Somatic				MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs	p.NP417fs			WXS	Illumina GAIIx	Phase_I	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			14	199						14	199	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179196280	179196281	+	Splice_Site	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:179196280_179196281insT	ENST00000190611.4	+	6	696_697	c.320_321insT	c.(319-324)cgtttt>cgTtttt	p.RF107fs	OSBPL6_ENST00000409045.3_Splice_Site_p.RF107fs|OSBPL6_ENST00000359685.3_Splice_Site_p.RF107fs|OSBPL6_ENST00000392505.2_Splice_Site_p.RF107fs|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000409631.1_Splice_Site_p.RF107fs|OSBPL6_ENST00000315022.2_Splice_Site_p.RF86fs|OSBPL6_ENST00000357080.4_Splice_Site_p.RF107fs	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTTGCAGCGTTTTTTTGTCC	0.361																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.e6-1		oxysterol binding protein-like 6																																				SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179196280_179196281insT	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.319-1->T	2.37:g.179196287_179196287dupT			Somatic				OSBPL6_ENST00000409631.1_Splice_Site_p.L107_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.L107_splice|OSBPL6_ENST00000359685.3_Splice_Site_p.L107_splice|OSBPL6_ENST00000357080.4_Splice_Site_p.L107_splice|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Splice_Site_p.L86_splice	p.L107_splice	NM_032523.3	NP_115912.1	WXS	Illumina GAIIx	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		6	696_697	+			107			PH.		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Splice_Site	INS	ENST00000190611.4	37	c.318_splice	CCDS2277.1																																																																																				0.361	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Frame_Shift_Ins	8	217						8	217	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1210-1212)cccfs		inositol polyphosphate-5-phosphatase, 145kDa																																				SO:0001589	frameshift_variant	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234072358_234072359insC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1217dupC	2.37:g.234072365_234072365dupC	ENSP00000352575:p.Ala404fs		Somatic				INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs	p.P404fs			WXS	Illumina GAIIx	Phase_I	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	14	1210_1211	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	416					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Frame_Shift_Ins	INS	ENST00000359570.5	37	c.1210_1211insC																																																																																					0.535	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		14	278						14	278	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_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			Somatic				FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	WXS	Illumina GAIIx	Phase_I	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	11	66						11	66	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)tggfs	p.W558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.W558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1672-1674)gggfs		TatD DNase domain containing 2																																				SO:0001589	frameshift_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312538_10312539insG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1678dupG	3.37:g.10312544_10312544dupG	ENSP00000287652:p.Trp558fs		Somatic				TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	p.G558fs	NM_014760.3	NP_055575.3	WXS	Illumina GAIIx	Phase_I	Q93075	TATD2_HUMAN			4	2723_2724	+			558					Q3MIL9|Q5BKU0	Frame_Shift_Ins	INS	ENST00000287652.4	37	c.1672_1673insG	CCDS33698.1																																																																																				0.505	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	354						7	354	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855|rs63751031		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)accfs	p.T495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.T397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.T254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.T254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.47		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		2	Substitution - Missense(1)|Whole gene deletion(1)	p.T495A(1)|p.0?(1)	ovary(1)|breast(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1483-1485)cccfs	Mismatch excision repair (MMR)	mutL homolog 1																																				SO:0001589	frameshift_variant	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070348_37070349insC	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1489dupC	3.37:g.37070354_37070354dupC	ENSP00000231790:p.Thr495fs		Somatic				MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs	p.P495fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	WXS	Illumina GAIIx	Phase_I	P40692	MLH1_HUMAN			13	1699_1700	+			495			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Frame_Shift_Ins	INS	ENST00000231790.2	37	c.1483_1484insC	CCDS2663.1																																																																																				0.470	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		8	622						8	622	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																						ENST00000283713.6																			1	Insertion - Frameshift(1)	p.H480fs*38(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1429-1434)gaccccfs		villin-like				6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				SO:0001589	frameshift_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043303_38043304insC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs		Somatic				VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs	p.DP477fs			WXS	Illumina GAIIx	Phase_I	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1697_1698	+			477					A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	c.1431_1432insC	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		13	100						13	100	---	---	---	---
WDR48	57599	broad.mit.edu	37	3	39130740	39130741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:39130740_39130741insG	ENST00000302313.5	+	16	1627_1628	c.1599_1600insG	c.(1600-1602)gggfs	p.G534fs	WDR48_ENST00000544962.1_Frame_Shift_Ins_p.G259fs|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Frame_Shift_Ins_p.G452fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	534					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.G534W(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCGAGATTCCGGGGGTGAGAC	0.436																																						ENST00000302313.5																			1	Substitution - Missense(1)	p.G534W(1)	lung(1)	breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1597-1602)tcggggfs		WD repeat domain 48																																				SO:0001589	frameshift_variant	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39130740_39130741insG	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1604dupG	3.37:g.39130745_39130745dupG	ENSP00000307491:p.Gly534fs		Somatic				WDR48_ENST00000396258.3_Frame_Shift_Ins_p.SG451fs|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Frame_Shift_Ins_p.SG258fs	p.SG533fs	NM_020839.2	NP_065890.1	WXS	Illumina GAIIx	Phase_I	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1627_1628	+			533					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Ins	INS	ENST00000302313.5	37	c.1599_1600insG	CCDS33738.1																																																																																				0.436	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		13	624						13	624	---	---	---	---
ZKSCAN7	55888	broad.mit.edu	37	3	44612370	44612375	+	In_Frame_Del	DEL	CAGAAC	CAGAAC	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:44612370_44612375delCAGAAC	ENST00000273320.3	+	6	2197_2202	c.1768_1773delCAGAAC	c.(1768-1773)cagaacdel	p.QN590del	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.QN590del|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	590					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)										AGCCTTCAATCAGAACTCTCAACTCA	0.427																																						ENST00000273320.3																			0											c.(1768-1773)del		zinc finger with KRAB and SCAN domains 7																																				SO:0001651	inframe_deletion	55888							g.chr3:44612370_44612375delCAGAAC	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1768_1773delCAGAAC	3.37:g.44612370_44612375delCAGAAC	ENSP00000273320:p.Gln590_Asn591del		Somatic				RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.QN590del|ZKSCAN7_ENST00000341840.3_Intron	p.QN590del	NM_018651.2	NP_061121.2	WXS	Illumina GAIIx	Phase_I					6	2197_2202	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	In_Frame_Del	DEL	ENST00000273320.3	37	c.1768_1773delCAGAAC	CCDS2715.1																																																																																				0.427	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		8	421						8	421	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_5'UTR|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		Somatic				RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron	p.G96fs	NM_005777.2	NP_005768.1	WXS	Illumina GAIIx	Phase_I	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		16	235						16	235	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)cagfs	p.Q488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1462-1464)gggfs		Vpr (HIV-1) binding protein																																				SO:0001589	frameshift_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457614_51457615insG	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1463dupC	3.37:g.51457621_51457621dupG	ENSP00000338857:p.Gln488fs		Somatic					p.G488fs			WXS	Illumina GAIIx	Phase_I	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1471_1472	-			937					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Frame_Shift_Ins	INS	ENST00000335891.5	37	c.1462_1463insC																																																																																					0.589	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		16	155						16	155	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(988-990)cccfs	p.P330fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	330					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(985-990)ctccccfs		interleukin 17 receptor B																																				SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898813_53898814insC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.993dupC	3.37:g.53898819_53898819dupC	ENSP00000288167:p.Pro330fs		Somatic					p.LP329fs	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	996_997	+			329					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Ins	INS	ENST00000288167.3	37	c.987_988insC	CCDS2874.1																																																																																				0.406	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		8	609						8	609	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:63981831_63981832insC	ENST00000295900.6	+	12	2883_2884	c.2333_2334insC	c.(2332-2337)ggccccfs	p.GP778fs	ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.GP633fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.GP778fs|ATXN7_ENST00000398590.3_Frame_Shift_Ins_p.GP778fs|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		Somatic				ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs	p.A778fs	NM_001177387.1	NP_001170858.1	WXS	Illumina GAIIx	Phase_I	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		10	157						10	157	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)cccagtfs	p.S1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.S1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(4993-4998)ccgtgtfs		ADAM metallopeptidase with thrombospondin type 1 motif, 9																																				SO:0001589	frameshift_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64532502_64532503insG	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4996dupC	3.37:g.64532508_64532508dupG	ENSP00000418735:p.Ser1666fs		Somatic				ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	p.C1666fs	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	32	5337_5338	-		Lung NSC(201;0.00682)	1666			TSP type-1 14.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Frame_Shift_Ins	INS	ENST00000498707.1	37	c.4995_4996insC	CCDS2903.1																																																																																				0.535	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			9	443						9	443	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G	rs201231166		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)cagfs	p.Q380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380					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						CAGCTTCTCCTGGGGGGTGAAT	0.5																																					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	GRCh37	CD011866	CPOX	D		c.(1138-1140)ggafs		coproporphyrinogen oxidase																																				SO:0001589	frameshift_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304318_98304319insG	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.1139dupC	3.37:g.98304324_98304324dupG	ENSP00000264193:p.Gln380fs		Somatic					p.G380fs	NM_000097.5	NP_000088.3	WXS	Illumina GAIIx	Phase_I	P36551	HEM6_HUMAN			5	1356_1357	-			380					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Frame_Shift_Ins	INS	ENST00000264193.2	37	c.1138_1139insC	CCDS2932.1																																																																																				0.500	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		10	467						10	467	---	---	---	---
TAGLN3	29114	broad.mit.edu	37	3	111718404	111718405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:111718404_111718405insC	ENST00000393917.2	+	2	687_688	c.135_136insC	c.(136-138)cccfs	p.P46fs	TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.P46fs|TAGLN3_ENST00000486460.1_5'Flank	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	46	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						TAGAGCACCCGCCCCCCGGCAG	0.614																																						ENST00000393917.2																			0				endometrium(2)|lung(5)|urinary_tract(1)	8						c.(133-138)ccccccfs		transgelin 3																																				SO:0001589	frameshift_variant	29114				central nervous system development|muscle organ development			g.chr3:111718404_111718405insC	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.141dupC	3.37:g.111718410_111718410dupC	ENSP00000377494:p.Pro46fs		Somatic				TAGLN3_ENST00000478951.1_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000455401.2_Frame_Shift_Ins_p.PP45fs|TAGLN3_ENST00000273368.4_Frame_Shift_Ins_p.PP45fs	p.PP45fs	NM_013259.2	NP_037391.2	WXS	Illumina GAIIx	Phase_I	Q9UI15	TAGL3_HUMAN			2	687_688	+			45			CH.		D3DN64|Q96A74	Frame_Shift_Ins	INS	ENST00000393917.2	37	c.135_136insC	CCDS33816.1																																																																																				0.614	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1	NM_013259		7	161						7	161	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(313-315)gggfs	p.G105fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.G101fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	105					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(310-315)gaggggfs		thyrotropin-releasing hormone																																				SO:0001589	frameshift_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695642_129695643insG		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.319dupG	3.37:g.129695649_129695649dupG	ENSP00000303452:p.Gly105fs		Somatic				TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	p.EG104fs	NM_007117.3	NP_009048.1	WXS	Illumina GAIIx	Phase_I	P20396	TRH_HUMAN			3	839_840	+			104					B2R8R1|Q2TB83	Frame_Shift_Ins	INS	ENST00000302649.3	37	c.312_313insG	CCDS3066.1																																																																																				0.569	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		10	157						10	157	---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(943-945)gggfs	p.G315fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.G315fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	315										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(940-945)atggggfs		sterile alpha motif domain containing 7																																				SO:0001589	frameshift_variant	344658							g.chr3:169646267_169646268insG	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.948dupG	3.37:g.169646273_169646273dupG	ENSP00000391299:p.Gly315fs		Somatic				SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	p.MG314fs	NM_182610.2	NP_872416.1	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		7	1331_1332	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		314						Frame_Shift_Ins	INS	ENST00000428432.2	37	c.942_943insG	CCDS3209.1																																																																																				0.381	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		10	373						10	373	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)cccaaafs	p.K273fs	UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.K111fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.K125fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	273						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCACATTTTTTGGGGGGACTGC	0.396																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(814-819)ccaaaafs		UBX domain protein 7																																				SO:0001589	frameshift_variant	26043						protein binding	g.chr3:196094916_196094917insG	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.817dupC	3.37:g.196094922_196094922dupG	ENSP00000296328:p.Lys273fs		Somatic				UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs	p.PK272fs	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	O94888	UBXN7_HUMAN			8	890_891	-			272					D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Ins	INS	ENST00000296328.4	37	c.816_817insC	CCDS43191.1																																																																																				0.396	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		7	436						7	436	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.R145fs	NM_012318.2	NP_036450.1	WXS	Illumina GAIIx	Phase_I	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			10	102						10	102	---	---	---	---
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.H464fs	NM_018176.3	NP_060646.2	WXS	Illumina GAIIx	Phase_I	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			8	371						8	371	---	---	---	---
STIM2	57620	broad.mit.edu	37	4	27019446	27019447	+	Frame_Shift_Ins	INS	-	-	C	rs551838879		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:27019446_27019447insC	ENST00000467011.1	+	11	2028_2029	c.1603_1604insC	c.(1603-1605)gccfs	p.A535fs	STIM2_ENST00000467087.1_Frame_Shift_Ins_p.A535fs|STIM2_ENST00000382009.3_Frame_Shift_Ins_p.A630fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.A543fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.A622fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.A622fs	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535	His/Pro-rich.				activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGCTCCACACGCCCCCCACCCG	0.619																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1888-1890)cccfs		stromal interaction molecule 2																																				SO:0001589	frameshift_variant	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019446_27019447insC	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1609dupC	4.37:g.27019452_27019452dupC	ENSP00000419383:p.Ala535fs		Somatic				STIM2_ENST00000467011.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000412829.2_Frame_Shift_Ins_p.P622fs|STIM2_ENST00000465503.1_Frame_Shift_Ins_p.P543fs|STIM2_ENST00000467087.1_Frame_Shift_Ins_p.P535fs|STIM2_ENST00000237364.5_Frame_Shift_Ins_p.P622fs	p.P630fs	NM_001169118.1	NP_001162589.1	WXS	Illumina GAIIx	Phase_I	Q9P246	STIM2_HUMAN			12	2155_2156	+		Breast(46;0.0503)	535					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Frame_Shift_Ins	INS	ENST00000467011.1	37	c.1888_1889insC	CCDS54752.1																																																																																				0.619	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		8	665						8	665	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1845)ctggggfs	p.LG614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1840-1842)cggfs		ATPase, class V, type 10D																																				SO:0001589	frameshift_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559697_47559698insG	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1848dupG	4.37:g.47559704_47559704dupG	ENSP00000273859:p.Leu614fs		Somatic				AC092597.3_ENST00000508081.1_RNA	p.R614fs	NM_020453.3	NP_065186.3	WXS	Illumina GAIIx	Phase_I	Q9P241	AT10D_HUMAN			12	2110_2111	+			614					A2RRC8|D6REN2|Q8NC70|Q96SR3	Frame_Shift_Ins	INS	ENST00000273859.3	37	c.1841_1842insG	CCDS3476.1																																																																																				0.401	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		7	120						7	120	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264899.6_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		Somatic				FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	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			13	160						13	160	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1471-1473)agafs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140293_96140294insG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Somatic				UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	p.R491fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1819_1820	-		Hepatocellular(203;0.114)	491					Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.1471_1472insC	CCDS3643.1																																																																																				0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		23	575						23	575	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100265826	100265827	+	RNA	INS	-	-	AACTC	rs368136717|rs34551784|rs79306877	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:100265826_100265827insAACTC	ENST00000510055.1	-	0	742				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TACATTTTCTTAACAAGTTTTT	0.297														1074	0.214457	0.0998	0.2709	5008	,	,		19444	0.0764		0.4046	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100265826_100265827insAACTC	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100265826_100265827insAACTC			Somatic				ADH1C_ENST00000510055.1_RNA		NM_000669.3	NP_000660.1	WXS	Illumina GAIIx	Phase_I	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	919	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000510055.1	37																																																																																						0.297	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		2	4						2	4	---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118006513	118006514	+	Frame_Shift_Ins	INS	-	-	G	rs113650718	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:118006513_118006514insG	ENST00000310754.4	-	1	222_223	c.36_37insC	c.(34-39)cccgttfs	p.V13fs		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	13					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCTGAGAACGGGGGGGTTCT	0.619																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(34-39)ccttctfs		translocation associated membrane protein 1-like 1																																				SO:0001589	frameshift_variant	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006513_118006514insG	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.37dupC	4.37:g.118006520_118006520dupG	ENSP00000309402:p.Val13fs		Somatic					p.S13fs	NM_152402.2	NP_689615.2	WXS	Illumina GAIIx	Phase_I	Q8N609	TR1L1_HUMAN			1	222_223	-			13					Q8N2L7	Frame_Shift_Ins	INS	ENST00000310754.4	37	c.36_37insC	CCDS3707.1																																																																																				0.619	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		9	187						9	187	---	---	---	---
QRFPR	84109	broad.mit.edu	37	4	122301461	122301462	+	Splice_Site	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:122301461_122301462insC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CGCGACTCTTACCCCCCAGCCA	0.54																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.e1+1		pyroglutamylated RFamide peptide receptor																																				SO:0001630	splice_region_variant	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122301461_122301462insC	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.340+1->G	4.37:g.122301467_122301467dupC			Somatic				QRFPR_ENST00000334383.5_Splice_Site		NM_198179.2	NP_937822.2	WXS	Illumina GAIIx	Phase_I	Q96P65	QRFPR_HUMAN			1	752	-									Splice_Site	INS	ENST00000394427.2	37		CCDS3719.1																																																																																				0.540	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	Intron	7	283						7	283	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	p.I1272fs	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	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		7	771						7	771	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:155526058_155526059insC	ENST00000336098.3	-	9	1327_1328	c.1289_1290insG	c.(1288-1290)ggafs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000404648.3_Frame_Shift_Ins_p.G430fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.45																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)ggcfs		fibrinogen gamma chain	Sucralfate(DB00364)																																			SO:0001589	frameshift_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526058_155526059insC		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1290dupG	4.37:g.155526064_155526064dupC	ENSP00000336829:p.Gly430fs		Somatic				FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	p.G430fs	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			9	1528_1529	-	all_hematologic(180;0.215)	Renal(120;0.0458)	430			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Ins	INS	ENST00000336098.3	37	c.1289_1290insG	CCDS3788.1																																																																																				0.450	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		11	564						11	564	---	---	---	---
SH3RF1	57630	broad.mit.edu	37	4	170057550	170057551	+	Frame_Shift_Ins	INS	-	-	G	rs371090000		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:170057550_170057551insG	ENST00000284637.9	-	5	1327_1328	c.986_987insC	c.(985-987)cctfs	p.P329fs	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	329					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGAT	0.569																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(985-987)cgtfs		SH3 domain containing ring finger 1																																				SO:0001589	frameshift_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170057550_170057551insG	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.987dupC	4.37:g.170057556_170057556dupG	ENSP00000284637:p.Pro329fs		Somatic				SH3RF1_ENST00000508685.1_5'UTR	p.R329fs	NM_020870.3	NP_065921.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	5	1327_1328	-		Prostate(90;0.00267)|Renal(120;0.0183)	329					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Frame_Shift_Ins	INS	ENST00000284637.9	37	c.986_987insC	CCDS34099.1																																																																																				0.569	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		8	277						8	277	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr4:186997804_186997805insG	ENST00000296795.3	+	2	135_136	c.31_32insG	c.(31-33)tggfs	p.W11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(31-33)gggfs		toll-like receptor 3																																				SO:0001589	frameshift_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:186997804_186997805insG	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.38dupG	4.37:g.186997811_186997811dupG	ENSP00000296795:p.Trp11fs		Somatic					p.G11fs	NM_003265.2	NP_003256.1	WXS	Illumina GAIIx	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	2	135_136	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	11					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Frame_Shift_Ins	INS	ENST00000296795.3	37	c.31_32insG	CCDS3846.1																																																																																				0.446	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			12	300						12	300	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	p.P307fs	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	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		9	537						9	537	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)ggcfs	p.G1225fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G564fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564																																						ENST00000513610.1																			1	Insertion - Frameshift(1)	p.S1226fs*25(1)	pancreas(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3673-3675)gtcfs		myosin X				37,3583		4,29,1777						2.5	1.0			84	28,7806		3,22,3892	no	frameshift	MYO10	NM_012334.2		7,51,5669	A1A1,A1R,RR		0.3574,1.0221,0.5675				65,11389				SO:0001589	frameshift_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694605_16694606insC	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3675dupG	5.37:g.16694613_16694613dupC	ENSP00000421280:p.Gly1225fs		Somatic				MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	p.V1225fs	NM_012334.2	NP_036466.2	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			27	4128_4129	-			1225			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	ENST00000513610.1	37	c.3674_3675insG	CCDS54834.1																																																																																				0.564	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		30	241						30	241	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs	p.G101fs			WXS	Illumina GAIIx	Phase_I	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			8	236						8	236	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)gggccafs	p.P325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.P325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.P335fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.P325fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.54																																						ENST00000351578.6																			4	Substitution - Missense(4)	p.P325A(3)|p.P335A(1)	kidney(4)	endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(970-975)ggcatgfs		FYN binding protein																																				SO:0001589	frameshift_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202090_39202091insC	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.973dupG	5.37:g.39202097_39202097dupC	ENSP00000316460:p.Pro325fs		Somatic				FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs	p.M325fs	NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	1162_1163	-	all_lung(31;0.000343)		325					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Frame_Shift_Ins	INS	ENST00000351578.6	37	c.972_973insG	CCDS47200.1																																																																																				0.540	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		17	200						17	200	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)caafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.Q595fs|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		p.Q595K(1)		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)				CCCTCCTCGTTGGGGGGCAGGA	0.5																																						ENST00000263413.3																			1	Substitution - Missense(1)	p.Q595K(1)	lung(1)	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						c.(1783-1785)acgfs		complement component 6																																				SO:0001589	frameshift_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159256_41159257insG	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.1784dupC	5.37:g.41159262_41159262dupG	ENSP00000263413:p.Gln595fs		Somatic				C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	p.T595fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			12	2047_2048	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	595			TSP type-1 3.			Frame_Shift_Ins	INS	ENST00000263413.3	37	c.1783_1784insC	CCDS3936.1																																																																																				0.500	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			7	304						7	304	---	---	---	---
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C	rs372345940		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggagcfs	p.S277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.S277fs|C6_ENST00000475349.1_5'UTR	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		Somatic				C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	p.L277fs	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	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			8	237						8	237	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	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		18	450						18	450	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.*294fs	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	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	158						13	158	---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83360606	83360607	+	Frame_Shift_Ins	INS	-	-	G	rs192448414	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:83360606_83360607insG	ENST00000296591.5	-	8	1282_1283	c.864_865insC	c.(862-867)cccatafs	p.I289fs	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.I279fs	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	289	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(862-867)cctaaafs		EGF-like repeats and discoidin I-like domains 3																																				SO:0001589	frameshift_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83360606_83360607insG	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.865dupC	5.37:g.83360612_83360612dupG	ENSP00000296591:p.Ile289fs		Somatic				EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.K279fs	p.K289fs	NM_005711.3	NP_005702.3	WXS	Illumina GAIIx	Phase_I	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	8	1282_1283	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	289			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Frame_Shift_Ins	INS	ENST00000296591.5	37	c.864_865insC	CCDS4062.1																																																																																				0.391	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		10	387						10	387	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G	rs569568718	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)cccaaafs	p.K880fs	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.K259fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.K880fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.K357fs|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.K897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.K307fs|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2635-2640)ccaagtfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A																																				SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782764_115782765insG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2638dupC	5.37:g.115782770_115782770dupG	ENSP00000345512:p.Lys880fs		Somatic				SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs	p.S880fs	NM_020796.3	NP_065847.1	WXS	Illumina GAIIx	Phase_I	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3424_3425	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	880					Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	c.2637_2638insC	CCDS47256.1																																																																																				0.604	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		8	513						8	513	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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		7	743						7	743	---	---	---	---
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G	rs570026912|rs371126144		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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_ENST00000433282.2_Frame_Shift_Ins_p.R125fs|SLC25A48_ENST00000274513.5_Frame_Shift_Ins_p.R179fs			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		Somatic				SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Intron	p.G179fs			WXS	Illumina GAIIx	Phase_I	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		7	297						7	297	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803131	137803132	+	Frame_Shift_Ins	INS	-	-	C	rs148475837		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:137803131_137803132insC	ENST00000239938.4	+	2	1265_1266	c.993_994insC	c.(994-996)cccfs	p.P332fs		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	332					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACGA	0.649																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(991-996)acccccfs		early growth response 1																																				SO:0001589	frameshift_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803131_137803132insC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1000dupC	5.37:g.137803138_137803138dupC	ENSP00000239938:p.Pro332fs		Somatic					p.TP331fs	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1265_1266	+			331						Frame_Shift_Ins	INS	ENST00000239938.4	37	c.993_994insC	CCDS4206.1																																																																																				0.649	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		8	119						8	119	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.PG255fs	NM_032289.2	NP_115665.1	WXS	Illumina GAIIx	Phase_I	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		13	229						13	229	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)gggaggfs	p.R763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.R665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.R425fs	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		Somatic				ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	p.D763fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	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		9	641						9	641	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141051692	141051693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:141051692_141051693insC	ENST00000239440.4	-	10	1626_1627	c.1561_1562insG	c.(1561-1563)gtgfs	p.V521fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.V443fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.V183fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	521	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						GCAGATGACCACCCCCAAATTG	0.609																																						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.(1561-1563)ggtfs		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.chr5:141051692_141051693insC	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.1562dupG	5.37:g.141051697_141051697dupC	ENSP00000239440:p.Val521fs		Somatic				ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.G183fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.G443fs	p.G521fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			10	1626_1627	-			521			Arf-GAP.		B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.1561_1562insG	CCDS4266.1																																																																																				0.609	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	1495						8	1495	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|CTB-99A3.1_ENST00000512730.1_RNA			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.5																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1189-1191)gaafs		protein phosphatase 2, regulatory subunit B, beta																																				SO:0001589	frameshift_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969651_145969652insC	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1191dupG	5.37:g.145969657_145969657dupC	ENSP00000377935:p.Gly397fs		Somatic				PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs	p.E397fs			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1760_1761	-			397					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Frame_Shift_Ins	INS	ENST00000394413.3	37	c.1190_1191insG	CCDS4284.1																																																																																				0.500	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		10	732						10	732	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)accfs	p.T526fs	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1576-1578)cctfs		serine/threonine kinase 10				2,4262		0,2,2130						4.6	1.0		dbSNP_131	210	0,8254		0,0,4127	no	frameshift	STK10	NM_005990.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171517344_171517345insT	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1577dupA	5.37:g.171517351_171517351dupT	ENSP00000176763:p.Thr526fs		Somatic					p.P526fs	NM_005990.3	NP_005981.3	WXS	Illumina GAIIx	Phase_I	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1919_1920	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	526					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Ins	INS	ENST00000176763.5	37	c.1576_1577insA	CCDS34290.1																																																																																				0.515	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		11	813						11	813	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs		Somatic				KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	p.D274fs	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		7	502						7	502	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs		Somatic				PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron	p.LP103fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		8	190						8	190	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(751-753)gggfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206134_13206135insG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.759dupG	6.37:g.13206141_13206141dupG	ENSP00000368655:p.Val251fs		Somatic				PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		14	185						14	185	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000480039.1_Intron	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		Somatic				C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	WXS	Illumina GAIIx	Phase_I	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			12	273						12	273	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P308fs	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	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			17	218						17	218	---	---	---	---
LINC00271	100131814	broad.mit.edu	37	6	135853877	135853878	+	lincRNA	DEL	AA	AA	-	rs577071336|rs13218668		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr6:135853877_135853878delAA	ENST00000421378.2	+	0	147					NR_026805.1		P0C7V0	CF217_HUMAN	long intergenic non-protein coding RNA 271																		gaggaaaaagaagaggaagagg	0.5																																						ENST00000421378.2																			0																																																			100131814							g.chr6:135853877_135853878delAA			6q23.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000231028	ENSG00000231028		"""Long non-coding RNAs"""	32526	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 217"", ""non-protein coding RNA 271"""	C6orf217, NCRNA00271			Standard	NR_026805		Approved		uc010kgm.2	P0C7V0	OTTHUMG00000015632		6.37:g.135853877_135853878delAA			Somatic						NR_026805.1		WXS	Illumina GAIIx	Phase_I					0	147	+									RNA	DEL	ENST00000421378.2	37																																																																																						0.500	LINC00271-003	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000443467.1	NR_026805		5	3						5	3	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)tggfs	p.W360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.W360fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1078-1080)gggfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404085_2404086insG	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1085dupG	7.37:g.2404092_2404092dupG	ENSP00000354125:p.Trp360fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	p.G360fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1134_1135	+		Ovarian(82;0.0253)	360			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1078_1079insG	CCDS5332.1																																																																																				0.475	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			9	181						9	181	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24870394	24870395	+	Frame_Shift_Ins	INS	-	-	A	rs35793413		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:24870394_24870395insA	ENST00000313367.2	-	16	2327_2328	c.1876_1877insT	c.(1876-1878)tcafs	p.S626fs	OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.S590fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.S595fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.S559fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.S559fs|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		Somatic				OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs	p.R626fs	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	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			13	709						13	709	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(376-378)accfs		FK506 binding protein 9, 63 kDa																																				SO:0001589	frameshift_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33014803_33014804insC	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.384dupC	7.37:g.33014810_33014810dupC	ENSP00000242209:p.Ile126fs		Somatic				AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR	p.T126fs	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		3	546_547	+			126			PPIase FKBP-type 1.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Frame_Shift_Ins	INS	ENST00000242209.4	37	c.377_378insC	CCDS5439.1																																																																																				0.446	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		9	244						9	244	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)atcfs	p.I139fs	EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.I37fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.I78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.I259fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.51																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(415-417)cggfs		ependymin related 1																																				SO:0001589	frameshift_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988587_37988588insT	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.416dupT	7.37:g.37988588_37988588dupT	ENSP00000199448:p.Ile139fs		Somatic				EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs	p.R139fs	NM_017549.4	NP_060019.2	WXS	Illumina GAIIx	Phase_I	Q9UM22	EPDR1_HUMAN			2	794_795	+			139					A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Ins	INS	ENST00000199448.4	37	c.415_416insT	CCDS5454.2																																																																																				0.510	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		8	447						8	447	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:40899961_40899962insC	ENST00000335693.4	+	14	1244_1245	c.1221_1222insC	c.(1222-1224)cccfs	p.P408fs	C7orf10_ENST00000309930.5_Frame_Shift_Ins_p.P434fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.P360fs|C7orf10_ENST00000464028.1_3'UTR	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		Somatic				C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	p.PP433fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	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			11	467						11	467	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(574-576)cccfs	p.P192fs	GRM3_ENST00000536043.1_Frame_Shift_Ins_p.P64fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.P190fs|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.P192fs|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	192					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAGGACCGTGCCCCCCGACTT	0.564																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(571-576)gtccccfs		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001589	frameshift_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415681_86415682insC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.579dupC	7.37:g.86415687_86415687dupC	ENSP00000355316:p.Pro192fs		Somatic				GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs	p.VP191fs	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			3	1672_1673	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		191					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Frame_Shift_Ins	INS	ENST00000361669.2	37	c.573_574insC	CCDS5600.1																																																																																				0.564	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			10	219						10	219	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			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		Somatic				AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs	p.R3747fs			WXS	Illumina GAIIx	Phase_I	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		21	396						21	396	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T	rs375737733		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)accfs	p.T487fs	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.T367fs	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		Somatic				ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs	p.Q487fs	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	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		12	2635						12	2635	---	---	---	---
FBXO24	26261	broad.mit.edu	37	7	100187685	100187686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100187685_100187686insC	ENST00000241071.6	+	2	447_448	c.125_126insC	c.(124-129)ttccccfs	p.FP42fs	FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.FP30fs|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.FP42fs|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.FP80fs|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	42	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCCAGTTGTTCCCCCCAGAGC	0.569																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(124-126)tccfs		F-box protein 24																																				SO:0001589	frameshift_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187685_100187686insC	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.131dupC	7.37:g.100187691_100187691dupC	ENSP00000241071:p.Phe42fs		Somatic				FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR	p.S42fs	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			2	447_448	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		42			F-box.		A4D2D4|B4DX91|B4DY42|Q9H0G1	Frame_Shift_Ins	INS	ENST00000241071.6	37	c.125_126insC	CCDS5698.1																																																																																				0.569	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			9	341						9	341	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.S389fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	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		10	269						10	269	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100345611	100345611	+	RNA	DEL	A	A	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:100345611delA	ENST00000348028.3	+	0	1188				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			caagactctgaaaaaaaaaaa	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345611delA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345611delA			Somatic				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1171	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2775)gcaaaafs	p.AK924fs		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	924						endoplasmic reticulum (GO:0005783)											CTGGATACTGCAAAAAAACATG	0.351																																						ENST00000310396.5																			0											c.(2770-2772)gaafs		cadherin-like and PC-esterase domain containing 1																																				SO:0001589	frameshift_variant	79974							g.chr7:120911387_120911388insA		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2778dupA	7.37:g.120911394_120911394dupA	ENSP00000309772:p.Ala924fs		Somatic					p.E924fs	NM_024913.4	NP_079189.4	WXS	Illumina GAIIx	Phase_I					22	3238_3239	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Frame_Shift_Ins	INS	ENST00000310396.5	37	c.2771_2772insA	CCDS34739.1																																																																																				0.351	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		8	406						8	406	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs	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		Somatic				CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	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	1308						9	1308	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic								WXS	Illumina GAIIx	Phase_I					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		9	505						9	505	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)cccgatfs	p.D525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.D246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1570-1575)ccatgtfs		XK, Kell blood group complex subunit-related family, member 6																																				SO:0001589	frameshift_variant	286046					integral to membrane		g.chr8:10755815_10755816insG	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1573dupC	8.37:g.10755821_10755821dupG	ENSP00000416707:p.Asp525fs		Somatic				XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	p.C525fs	NM_173683.3	NP_775954.2	WXS	Illumina GAIIx	Phase_I	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1598_1599	-			525					Q8TBA0	Frame_Shift_Ins	INS	ENST00000416569.2	37	c.1572_1573insC	CCDS5978.2																																																																																				0.609	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		8	171						8	171	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs		Somatic				PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs	p.Q957fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		8	610						8	610	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)tccfs	p.S801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801					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)		TGCTGTCTTGTCCCCCCCACCC	0.525																																						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.(2401-2403)cccfs		potassium channel, subfamily U, member 1																																				SO:0001589	frameshift_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768517_36768518insC	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.2408dupC	8.37:g.36768524_36768524dupC	ENSP00000382770:p.Ser801fs		Somatic					p.P801fs	NM_001031836.2	NP_001027006.2	WXS	Illumina GAIIx	Phase_I	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2438_2439	+			801						Frame_Shift_Ins	INS	ENST00000399881.3	37	c.2401_2402insC	CCDS55220.1																																																																																				0.525	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		7	308						7	308	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P13fs	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	WXS	Illumina GAIIx	Phase_I	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		9	246						9	246	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733777	81733778	+	Frame_Shift_Ins	INS	-	-	T	rs372378549		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:81733777_81733778insT	ENST00000327835.3	-	2	283_284	c.52_53insA	c.(52-54)atgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTGATGAGACATTTTTTTACCA	0.421																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(52-54)gtcfs		zinc finger protein 704																																				SO:0001589	frameshift_variant	619279					intracellular	zinc ion binding	g.chr8:81733777_81733778insT	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.53dupA	8.37:g.81733784_81733784dupT	ENSP00000331462:p.Met18fs		Somatic					p.V18fs	NM_001033723.2	NP_001028895.1	WXS	Illumina GAIIx	Phase_I	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	283_284	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		18					B2RNE6|B9EGW6	Frame_Shift_Ins	INS	ENST00000327835.3	37	c.52_53insA	CCDS34913.1																																																																																				0.421	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		7	798						7	798	---	---	---	---
CCNE2	9134	broad.mit.edu	37	8	95906294	95906295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:95906294_95906295insG	ENST00000520509.1	-	3	319_320	c.67_68insC	c.(67-69)caafs	p.Q23fs	CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.Q23fs|CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.Q23fs|CCNE2_ENST00000523476.1_5'Flank|NDUFAF6_ENST00000396113.1_5'Flank			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTGGGCTTCTTGGGGGGATTCC	0.455																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(67-69)agafs		cyclin E2																																				SO:0001589	frameshift_variant	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95906294_95906295insG	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.68dupC	8.37:g.95906300_95906300dupG	ENSP00000429089:p.Gln23fs		Somatic				CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs	p.R23fs			WXS	Illumina GAIIx	Phase_I	O96020	CCNE2_HUMAN			3	319_320	-	Breast(36;8.75e-07)		23					O95439	Frame_Shift_Ins	INS	ENST00000520509.1	37	c.67_68insC	CCDS6264.1																																																																																				0.455	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		8	238						8	238	---	---	---	---
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1				microRNA 1208																		ACCACTGTGGTGGGGGGGAGTG	0.564																																						ENST00000408334.1																			0																																																			100302281							g.chr8:129162432_129162433insG			8q24.21	2011-09-12		2008-12-18	ENSG00000221261	ENSG00000221261		"""ncRNAs / Micro RNAs"""	35274	non-coding RNA	RNA, micro				MIRN1208			Standard	NR_031613		Approved	hsa-mir-1208	uc022bbk.1				8.37:g.129162439_129162439dupG			Somatic						NR_031613.1		WXS	Illumina GAIIx	Phase_I					0	71_72	+									RNA	INS	ENST00000408334.1	37																																																																																						0.564	MIR1208-201	KNOWN	basic	miRNA	miRNA		NR_031613		8	195						8	195	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:14823286_14823287insG	ENST00000380880.3	-	13	2991_2992	c.2208_2209insC	c.(2206-2211)cccatgfs	p.M737fs	FREM1_ENST00000380881.4_Frame_Shift_Ins_p.M738fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.M737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2214)cctgcafs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823286_14823287insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2209dupC	9.37:g.14823292_14823292dupG	ENSP00000370262:p.Met737fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs	p.A738fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3026_3027	-			737					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.2211_2212insC	CCDS47952.1																																																																																				0.441	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		7	679						7	679	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2227-2229)gggfs	p.G743fs	TEK_ENST00000406359.4_Frame_Shift_Ins_p.G700fs|TEK_ENST00000519097.1_Frame_Shift_Ins_p.G596fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	743					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CGGACCTCGGAGGGGGGAAGAT	0.51																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2224-2229)ggggggfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27204925_27204926insG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2232dupG	9.37:g.27204931_27204931dupG	ENSP00000369375:p.Gly743fs		Somatic				TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	p.GG742fs	NM_000459.3	NP_000450.2	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	14	2668_2669	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	742					A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.2226_2227insG	CCDS6519.1																																																																																				0.510	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			7	435						7	435	---	---	---	---
FAM219A	203259	broad.mit.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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_ENST00000379089.1_Frame_Shift_Ins_p.K163fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs|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		Somatic				FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs	p.V165fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	WXS	Illumina GAIIx	Phase_I	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		9	75						9	75	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35092522	35092523	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:35092522_35092523insC	ENST00000378617.3	-	7	1755_1756	c.1361_1362insG	c.(1360-1362)ggtfs	p.G454fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.G454fs|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	454					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCAT	0.594																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1360-1362)gacfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092522_35092523insC	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1362dupG	9.37:g.35092528_35092528dupC	ENSP00000367880:p.Gly454fs		Somatic				PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.D454fs	p.D454fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1755_1756	-			454					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.1361_1362insG	CCDS6575.1																																																																																				0.594	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		7	355						7	355	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35809952	35809953	+	IGR	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:35809952_35809953insC	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Frame_Shift_Ins_p.R473fs|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Frame_Shift_Ins_p.R481fs|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGAGTCATTCTCCCCCCTCCAC	0.505																																						ENST00000484764.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1414-1419)gggaatfs		sperm associated antigen 8																																				SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35809952_35809953insC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35809958_35809958dupC			Somatic				SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Frame_Shift_Ins_p.N481fs	p.N473fs			WXS	Illumina GAIIx	Phase_I	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1456_1457	-	all_epithelial(49;0.161)		0					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Frame_Shift_Ins	INS	ENST00000342694.2	37	c.1416_1417insG	CCDS6590.1																																																																																				0.505	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			7	376						7	376	---	---	---	---
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)cccaatfs	p.N151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401																																						ENST00000374865.4																			1	Substitution - coding silent(1)	p.P150P(1)	prostate(1)	large_intestine(1)|lung(2)|prostate(2)	5						c.(448-453)ccatttfs		mitochondrial ribosomal protein L50																																				SO:0001589	frameshift_variant	54534					mitochondrion|ribosome		g.chr9:104152774_104152775insG	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.451dupC	9.37:g.104152780_104152780dupG	ENSP00000363999:p.Asn151fs		Somatic				MRPL50_ENST00000539624.1_Intron	p.F151fs	NM_019051.2	NP_061924.1	WXS	Illumina GAIIx	Phase_I	Q8N5N7	RM50_HUMAN			2	471_472	-		Acute lymphoblastic leukemia(62;0.0559)	151					B7Z358|Q5T7E0|Q9NX15	Frame_Shift_Ins	INS	ENST00000374865.4	37	c.450_451insC	CCDS6753.1																																																																																				0.401	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		13	288						13	288	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.R1548fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15. {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						GACTGATGCCCGGGGGGGTCGC	0.475																																						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.(5731-5733)ggcfs		tenascin C																																				SO:0001589	frameshift_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117797538_117797539insG		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.5732dupC	9.37:g.117797545_117797545dupG	ENSP00000265131:p.Arg1911fs		Somatic				TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs	p.G1911fs	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			22	6142_6143	-			1911			Fibronectin type-III 15.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Ins	INS	ENST00000350763.4	37	c.5731_5732insC	CCDS6811.1																																																																																				0.475	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		13	676						13	676	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				PAPPA_ENST00000534838.1_Intron	p.P678fs	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	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		16	695						16	695	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15262984	15262985	+	Frame_Shift_Ins	INS	-	-	G	rs554506784		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:15262984_15262985insG	ENST00000378116.4	-	6	835_836	c.829_830insC	c.(829-831)cagfs	p.Q277fs	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	277						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTACCCCAACTGGGGGGCAATG	0.564																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(829-831)gttfs		family with sequence similarity 171, member A1																																				SO:0001589	frameshift_variant	221061					integral to membrane		g.chr10:15262984_15262985insG	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.830dupC	10.37:g.15262990_15262990dupG	ENSP00000367356:p.Gln277fs		Somatic				FAM171A1_ENST00000477161.1_5'UTR	p.V277fs	NM_001010924.1	NP_001010924.1	WXS	Illumina GAIIx	Phase_I	Q5VUB5	F1711_HUMAN			6	835_836	-			277					D3DRT9|Q32M49|Q8N4I0	Frame_Shift_Ins	INS	ENST00000378116.4	37	c.829_830insC	CCDS31154.1																																																																																				0.564	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		7	283						7	283	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G	rs577492421		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)cagfs	p.Q3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.45																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(10285-10287)gaafs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16877089_16877090insG	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10286dupC	10.37:g.16877095_16877095dupG	ENSP00000367064:p.Gln3429fs		Somatic					p.E3429fs	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			64	10350_10351	-			3429			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.10285_10286insC	CCDS7113.1																																																																																				0.450	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		8	535						8	535	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:24832466_24832467insC	ENST00000376454.3	+	19	4297_4298	c.4267_4268insC	c.(4267-4269)accfs	p.T1423fs	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.T1106fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1423					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						AAAAGAGATGACCCCCCGACAA	0.495																																						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.(3316-3318)cccfs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832466_24832467insC	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.4273dupC	10.37:g.24832472_24832472dupC	ENSP00000365637:p.Thr1423fs		Somatic				KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000396446.1_Intron	p.P1106fs			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			14	3576_3577	+			1423					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	c.3316_3317insC	CCDS31165.1																																																																																				0.495	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	367						8	367	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:31809832_31809833insG	ENST00000320985.10	+	7	1679_1680	c.1569_1570insG	c.(1570-1572)gggfs	p.G524fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.G525fs|ZEB1_ENST00000446923.2_Frame_Shift_Ins_p.G508fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.G457fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.G504fs			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	524					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77	GRCh37	CD075582	ZEB1	D	rs35708848	c.(1519-1524)gaggggfs		zinc finger E-box binding homeobox 1																																				SO:0001589	frameshift_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809832_31809833insG	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1576dupG	10.37:g.31809839_31809839dupG	ENSP00000319248:p.Gly524fs		Somatic				ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	p.EG507fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			7	1912_1913	+		Prostate(175;0.0156)	523					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Frame_Shift_Ins	INS	ENST00000320985.10	37	c.1521_1522insG	CCDS7169.1																																																																																				0.371	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		10	280						10	280	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)ggafs	p.G349fs	ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.G349fs|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1045-1047)gaafs		zinc finger protein 248																																				SO:0001589	frameshift_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121236_38121237insC	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1047dupG	10.37:g.38121242_38121242dupC	ENSP00000379208:p.Gly349fs		Somatic				ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	p.E349fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	WXS	Illumina GAIIx	Phase_I	Q8NDW4	ZN248_HUMAN			6	1596_1597	-			349					Q8NDV8|Q9UMP3	Frame_Shift_Ins	INS	ENST00000395867.3	37	c.1046_1047insG	CCDS7194.1																																																																																				0.401	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		9	509						9	509	---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:51586311_51586312insC	ENST00000443446.1	+	9	1968_1969	c.1739_1740insC	c.(1738-1743)ttccccfs	p.FP580fs	NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.S535fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.FP580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.FP414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.FP480fs|NCOA4_ENST00000452682.1_Frame_Shift_Ins_p.FP596fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.FP580fs	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(1786-1788)tccfs		nuclear receptor coactivator 4																																				SO:0001589	frameshift_variant	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51586311_51586312insC	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1745dupC	10.37:g.51586317_51586317dupC	ENSP00000390713:p.Phe580fs		Somatic				NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs	p.S596fs	NM_001145260.1	NP_001138732.1	WXS	Illumina GAIIx	Phase_I	Q13772	NCOA4_HUMAN			10	2039_2040	+			580					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Frame_Shift_Ins	INS	ENST00000443446.1	37	c.1787_1788insC	CCDS7237.1																																																																																				0.416	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		10	602						10	602	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG			Somatic						NR_038275.1		WXS	Illumina GAIIx	Phase_I					0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			12	435						12	435	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_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			Somatic				SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	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	28	665						28	665	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)cttfs	p.L421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.48																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1261-1263)tttfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98164994_98164995insG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1262dupC	10.37:g.98165000_98165000dupG	ENSP00000350630:p.Leu421fs		Somatic				TLL2_ENST00000469598.1_5'UTR	p.F421fs	NM_012465.3	NP_036597.1	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1486_1487	-		Colorectal(252;0.0846)	421			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.1261_1262insC	CCDS7449.1																																																																																				0.480	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			7	606						7	606	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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		18	532						18	532	---	---	---	---
IKZF5	64376	broad.mit.edu	37	10	124754014	124754015	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr10:124754014_124754015insC	ENST00000368886.5	-	5	861_862	c.541_542insG	c.(541-543)gttfs	p.V181fs	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	181					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(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTTCTGTAAAACCCCCCACATT	0.426																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(541-543)tttfs		IKAROS family zinc finger 5 (Pegasus)																																				SO:0001589	frameshift_variant	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124754014_124754015insC	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.542dupG	10.37:g.124754020_124754020dupC	ENSP00000357881:p.Val181fs		Somatic				PSTK_ENST00000497219.1_Intron	p.F181fs	NM_001271840.1	NP_001258769.1	WXS	Illumina GAIIx	Phase_I	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	5	861_862	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	181					B3KVH7|D3DRE7|Q9H2T0	Frame_Shift_Ins	INS	ENST00000368886.5	37	c.541_542insG	CCDS41574.1																																																																																				0.426	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		7	307						7	307	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic								WXS	Illumina GAIIx	Phase_I					0	114	-									RNA	INS	ENST00000456581.1	37																																																																																						0.530	LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1			7	183						7	183	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	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		Somatic				HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P147fs	NM_001005162.2	NP_001005162.2	WXS	Illumina GAIIx	Phase_I	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		15	1003						15	1003	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	500						10	500	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs		Somatic					p.E235fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	198						10	198	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)ggcfs	p.G968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.G968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.G311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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						TGAACATGGAGCCCCCCAGCTT	0.48																																						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.(2902-2904)gtcfs		DENN/MADD domain containing 5A																																				SO:0001589	frameshift_variant	23258							g.chr11:9167316_9167317insC	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.2904dupG	11.37:g.9167322_9167322dupC	ENSP00000328524:p.Gly968fs		Somatic				DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	p.V968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	WXS	Illumina GAIIx	Phase_I	Q6IQ26	DEN5A_HUMAN			17	3223_3224	-			968			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Ins	INS	ENST00000328194.3	37	c.2903_2904insG	CCDS31423.1																																																																																				0.480	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		8	866						8	866	---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13398236	13398237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:13398236_13398237insC	ENST00000403290.1	+	16	1730_1731	c.1375_1376insC	c.(1375-1377)tccfs	p.S459fs	ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.S458fs|ARNTL_ENST00000389708.3_Frame_Shift_Ins_p.P491fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.S415fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.S458fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.S341fs|ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.S416fs|ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.S457fs			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	459					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)		GCTCACAGCATCCCCCCACAGC	0.584																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(1468-1473)caccccfs		aryl hydrocarbon receptor nuclear translocator-like																																				SO:0001589	frameshift_variant	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.chr11:13398236_13398237insC	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.1381dupC	11.37:g.13398242_13398242dupC	ENSP00000384517:p.Ser459fs		Somatic				ARNTL_ENST00000403482.3_Frame_Shift_Ins_p.P457fs|ARNTL_ENST00000403290.1_Frame_Shift_Ins_p.P459fs|ARNTL_ENST00000403510.3_Frame_Shift_Ins_p.P415fs|ARNTL_ENST00000396441.3_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000361003.4_Frame_Shift_Ins_p.P341fs|ARNTL_ENST00000389707.4_Frame_Shift_Ins_p.P458fs|ARNTL_ENST00000401424.1_Frame_Shift_Ins_p.P416fs	p.HP490fs			WXS	Illumina GAIIx	Phase_I	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	16	1825_1826	+			0					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Frame_Shift_Ins	INS	ENST00000403290.1	37	c.1470_1471insC																																																																																					0.584	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		9	470						9	470	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30032939	30032940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:30032939_30032940insC	ENST00000328224.6	-	2	2519_2520	c.1286_1287insG	c.(1285-1287)ggtfs	p.G429fs	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GACCATTGCCACCCCCCTGTTG	0.5																																						ENST00000328224.6																			1	Deletion - Frameshift(1)	p.G429fs*53(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1285-1287)gggfs		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001589	frameshift_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032939_30032940insC	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1287dupG	11.37:g.30032945_30032945dupC	ENSP00000328511:p.Gly429fs		Somatic					p.G429fs	NM_002233.3	NP_002224.1	WXS	Illumina GAIIx	Phase_I	P22459	KCNA4_HUMAN			2	2519_2520	-			429						Frame_Shift_Ins	INS	ENST00000328224.6	37	c.1286_1287insG	CCDS41629.1																																																																																				0.500	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	474						7	474	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)gaafs	p.E202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.E219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2			APAF1 interacting protein											kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.45																																						ENST00000395787.3																			0				kidney(2)|lung(1)|skin(1)	4						c.(604-606)aacfs		APAF1 interacting protein																																				SO:0001589	frameshift_variant	51074				apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity	g.chr11:34904908_34904909insC	AF132963	CCDS7895.1	11p13	2014-05-12				ENSG00000149089	4.2.1.109		17581	protein-coding gene	gene with protein product	"""methylthioribulose-1-phosphate dehydratase"""	612491				10810093, 15262985, 24367089	Standard	NM_015957		Approved	CGI-29, Mmrp19, APIP2	uc001mvs.2	Q96GX9		ENST00000395787.3:c.605dupG	11.37:g.34904914_34904914dupC	ENSP00000379133:p.Glu202fs		Somatic				APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	p.N202fs	NM_015957.2	NP_057041.2	WXS	Illumina GAIIx	Phase_I	Q96GX9	MTNB_HUMAN	STAD - Stomach adenocarcinoma(6;0.000425)		6	818_819	-	all_epithelial(35;0.161)	all_hematologic(20;0.107)	202						Frame_Shift_Ins	INS	ENST00000395787.3	37	c.604_605insG	CCDS7895.1																																																																																				0.450	APIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389864.1	NM_015957		8	543						8	543	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs	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		Somatic				PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000534803.1_5'UTR	p.D101fs	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	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		42	891						42	891	---	---	---	---
C11orf49	79096	broad.mit.edu	37	11	47074000	47074001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:47074000_47074001insC	ENST00000278460.7	+	3	270_271	c.211_212insC	c.(211-213)accfs	p.T71fs	C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000395460.2_Frame_Shift_Ins_p.T71fs|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	71						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAAT	0.441																																						ENST00000395460.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.(211-213)cccfs		chromosome 11 open reading frame 49			,,,	1,4263		0,1,2131					,,,	6.0	1.0			144	0,8254		0,0,4127	no	frameshift,frameshift,frameshift,frameshift	C11orf49	NM_024113.3,NM_001003678.1,NM_001003677.1,NM_001003676.1	,,,	0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	79096							g.chr11:47074000_47074001insC	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.217dupC	11.37:g.47074006_47074006dupC	ENSP00000278460:p.Thr71fs		Somatic				C11orf49_ENST00000278460.7_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378615.3_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000378618.2_Frame_Shift_Ins_p.P71fs|C11orf49_ENST00000527268.1_3'UTR	p.P71fs	NM_001003676.1	NP_001003676.1	WXS	Illumina GAIIx	Phase_I	Q9H6J7	CK049_HUMAN			3	249_250	+			71					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Ins	INS	ENST00000278460.7	37	c.211_212insC	CCDS7925.1																																																																																				0.441	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113		8	460						8	460	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	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		8	827						8	827	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(478-480)gggfs		protein associated with topoisomerase II homolog 1 (yeast)																																				SO:0001589	frameshift_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59425145_59425146insG	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.479dupC	11.37:g.59425152_59425152dupG	ENSP00000300146:p.Gln160fs		Somatic					p.G160fs	NM_152716.2	NP_689929.2	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			5	562_563	-			160	Q -> H (in Ref. 2; BAG54601).		Pro-rich.|Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Ins	INS	ENST00000300146.9	37	c.478_479insC	CCDS44613.1																																																																																				0.455	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		12	222						12	222	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	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			Somatic				DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron		NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	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	465						11	465	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G	rs548830763		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:61183884_61183885insG	ENST00000394888.4	-	6	829_830	c.657_658insC	c.(655-660)cccagtfs	p.S220fs	CPSF7_ENST00000340437.4_Frame_Shift_Ins_p.S263fs|CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.S211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.S211fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(784-789)ccgtgtfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183884_61183885insG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.658dupC	11.37:g.61183890_61183890dupG	ENSP00000378352:p.Ser220fs		Somatic				CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs	p.C263fs	NM_024811.3	NP_079087.3	WXS	Illumina GAIIx	Phase_I	Q8N684	CPSF7_HUMAN			6	866_867	-			220			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Ins	INS	ENST00000394888.4	37	c.786_787insC	CCDS44619.1																																																																																				0.594	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	594						8	594	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000278893.7_Intron|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			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		Somatic				BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs	p.D325fs			WXS	Illumina GAIIx	Phase_I	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		11	150						11	150	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs202225573|rs142447712		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:66272154_66272155insC	ENST00000360510.2	+	17	2015_2016	c.1950_1951insC	c.(1951-1953)cccfs	p.P651fs	DPP3_ENST00000531863.1_Frame_Shift_Ins_p.P671fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.P651fs|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.P670fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.P621fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.P651fs			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		Somatic				DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|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	WXS	Illumina GAIIx	Phase_I	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			9	206						9	206	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	p.R93fs	NM_005125.1	NP_005116.1	WXS	Illumina GAIIx	Phase_I	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		7	109						7	109	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000351960.6_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		Somatic				NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	WXS	Illumina GAIIx	Phase_I	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			7	332						7	332	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Intron	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:85435355_85435356insG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.P715fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.P1239fs	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.48																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3715-3717)cgafs		synaptotagmin-like 2																																				SO:0001627	intron_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85435355_85435356insG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3353->C	11.37:g.85435362_85435362dupG			Somatic				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000389960.4_Intron	p.R1239fs	NM_206928.2	NP_996811.1	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	1	3715_3716	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	400					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	ENST00000528231.1	37	c.3716_3717insC	CCDS53688.1																																																																																				0.480	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		9	205						9	205	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:88258517_88258518insG	ENST00000305447.4	-	8	2834_2835	c.2685_2686insC	c.(2683-2688)cccaaafs	p.K896fs	GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000455756.2_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Frame_Shift_Ins_p.K896fs	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATACTCCCTTTGGGGGTGAAAC	0.485																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2683-2688)ccaaggfs		glutamate receptor, metabotropic 5	Acamprosate(DB00659)																																			SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88258517_88258518insG	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2686dupC	11.37:g.88258522_88258522dupG	ENSP00000306138:p.Lys896fs		Somatic				GRM5_ENST00000455756.2_Intron|GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs|GRM5_ENST00000305432.5_Intron	p.R896fs			WXS	Illumina GAIIx	Phase_I	P41594	GRM5_HUMAN			9	3052_3053	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	896					Q6J164	Frame_Shift_Ins	INS	ENST00000305447.4	37	c.2685_2686insC	CCDS44694.1																																																																																				0.485	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		7	1319						7	1319	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1411-1413)cccfs		radixin																																				SO:0001589	frameshift_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104136_110104137insG	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1413dupC	11.37:g.110104143_110104143dupG	ENSP00000342830:p.Pro471fs		Somatic				RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron	p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina GAIIx	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1731_1732	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	471			Glu-rich.|Poly-Pro.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Frame_Shift_Ins	INS	ENST00000343115.4	37	c.1412_1413insC	CCDS8343.1																																																																																				0.431	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		14	351						14	351	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	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		8	784						8	784	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	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		8	849						8	849	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294593	124294594	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:124294593_124294594insG	ENST00000356130.3	-	1	195_196	c.174_175insC	c.(172-177)cccatgfs	p.M59fs		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAAAGTACATGGGGGTGTGAA	0.411																																						ENST00000356130.3																			1	Substitution - coding silent(1)	p.P58P(1)	lung(1)	endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(172-177)cctgtafs		olfactory receptor, family 8, subfamily B, member 4																																				SO:0001589	frameshift_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294593_124294594insG	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.175dupC	11.37:g.124294598_124294598dupG	ENSP00000348449:p.Met59fs		Somatic					p.V59fs	NM_001005196.1	NP_001005196.1	WXS	Illumina GAIIx	Phase_I	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	195_196	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	59					B2RNF8|Q6IFQ7	Frame_Shift_Ins	INS	ENST00000356130.3	37	c.174_175insC	CCDS31710.1																																																																																				0.411	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		8	1545						8	1545	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G	rs567657119		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)cagfs	p.Q147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.Q147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(439-441)gtafs		immunoglobulin superfamily, member 9B																																				SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133807826_133807827insG	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.440dupC	11.37:g.133807833_133807833dupG	ENSP00000317980:p.Gln147fs		Somatic				IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs	p.V147fs			WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	4	669_670	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	147			Ig-like 2.		G5EA26	Frame_Shift_Ins	INS	ENST00000321016.8	37	c.439_440insC																																																																																					0.574	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		9	116						9	116	---	---	---	---
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(739-741)gggfs	p.G247fs	NCAPD3_ENST00000526787.2_5'Flank|JAM3_ENST00000529443.2_Frame_Shift_Ins_p.G292fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.G196fs			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		Somatic				JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs	p.MG246fs			WXS	Illumina GAIIx	Phase_I	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		13	277						13	277	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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		18	498						18	498	---	---	---	---
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1209)ctggggfs	p.LG402fs		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	402					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)	CTGATTGTGCTGGGGGGCGTCG	0.629																																						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.(1204-1206)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.chr12:6927635_6927636insG	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.1211dupG	12.37:g.6927641_6927641dupG	ENSP00000011653:p.Leu402fs		Somatic					p.R402fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	WXS	Illumina GAIIx	Phase_I	P01730	CD4_HUMAN			8	1463_1464	+		Myeloproliferative disorder(1001;0.0122)	402					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.1205_1206insG	CCDS8562.1																																																																																				0.629	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	349						7	349	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs	p.P684fs			WXS	Illumina GAIIx	Phase_I	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	461						7	461	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs	p.D68fs			WXS	Illumina GAIIx	Phase_I	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			25	791						25	791	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.H34fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	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			13	198						13	198	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	-	G	rs374370282|rs369599312		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:53819644_53819645insG	ENST00000257863.4	+	6	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.R265fs|AMHR2_ENST00000379791.3_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		Somatic				AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs	p.G265fs	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	WXS	Illumina GAIIx	Phase_I	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		11	86						11	86	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	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			12	1917						12	1917	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56222209	56222210	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56222209_56222210insG	ENST00000357606.3	-	3	522_523	c.233_234insC	c.(232-234)ccafs	p.P78fs	TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.P78fs|DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.P78fs|RP11-762I7.5_ENST00000546837.1_5'Flank			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		Somatic				DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs	p.R78fs			WXS	Illumina GAIIx	Phase_I	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	388						7	388	---	---	---	---
PA2G4	5036	broad.mit.edu	37	12	56504194	56504194	+	Frame_Shift_Del	DEL	A	A	-	rs34197050		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56504194delA	ENST00000303305.6	+	8	1060	c.641delA	c.(640-642)gaafs	p.E214fs	PA2G4_ENST00000552766.1_Frame_Shift_Del_p.E214fs|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	214					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)			AAGGACCATGAAAAAGCTGAA	0.443																																						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.(640-642)gafs		proliferation-associated 2G4, 38kDa							77.0	74.0	75.0					12																	56504194		2203	4300	6503	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.chr12:56504194delA	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.641delA	12.37:g.56504194delA	ENSP00000302886:p.Glu214fs		Somatic				PA2G4_ENST00000552766.1_Frame_Shift_Del_p.E214fs|RP11-603J24.17_ENST00000548595.1_RNA	p.E214fs	NM_006191.2	NP_006182.2	WXS	Illumina GAIIx	Phase_I	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		8	1060	+			214					O43846|Q9UM59	Frame_Shift_Del	DEL	ENST00000303305.6	37	c.641delA	CCDS8902.1																																																																																				0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		53	117						53	117	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					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						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	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.chr12:56742816_56742817insG	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.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		17	308						17	308	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G	rs192511809	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)ccafs	p.P299fs	NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P299fs|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	299	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.49			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(895-897)cgafs		nascent polypeptide-associated complex alpha subunit																																				SO:0001589	frameshift_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57114417_57114418insG	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.897dupC	12.37:g.57114424_57114424dupG	ENSP00000403817:p.Pro299fs		Somatic				NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000552540.1_Intron	p.R299fs	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1177_1178	-			0						Frame_Shift_Ins	INS	ENST00000454682.1	37	c.896_897insC																																																																																					0.490	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		7	91						7	91	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		34	669						34	669	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2461-2463)gggfs	p.G821fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.G732fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	821					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2458-2463)agggggfs		kinesin family member 5A																																				SO:0001589	frameshift_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972047_57972048insG	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2466dupG	12.37:g.57972053_57972053dupG	ENSP00000408979:p.Gly821fs		Somatic				KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	p.RG820fs	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2734_2735	+			820					A6H8M5|Q4LE26	Frame_Shift_Ins	INS	ENST00000455537.2	37	c.2460_2461insG	CCDS8945.1																																																																																				0.505	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		9	1029						9	1029	---	---	---	---
E2F7	144455	broad.mit.edu	37	12	77419716	77419717	+	Frame_Shift_Ins	INS	-	-	G	rs36042830		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:77419716_77419717insG	ENST00000322886.7	-	12	2421_2422	c.2186_2187insC	c.(2185-2187)cctfs	p.P729fs	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	729					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGCCCACAGTAGGGGGGGTTTG	0.465																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2185-2187)cacfs		E2F transcription factor 7				7,4255		0,7,2124						-2.7	0.0		dbSNP_126	36	4,8250		0,4,4123	no	frameshift	E2F7	NM_203394.2		0,11,6247	A1A1,A1R,RR		0.0485,0.1642,0.0879				11,12505				SO:0001589	frameshift_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77419716_77419717insG	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2187dupC	12.37:g.77419723_77419723dupG	ENSP00000323246:p.Pro729fs		Somatic				E2F7_ENST00000416496.2_Intron	p.H729fs	NM_203394.2	NP_976328.2	WXS	Illumina GAIIx	Phase_I	Q96AV8	E2F7_HUMAN			12	2421_2422	-			729					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Ins	INS	ENST00000322886.7	37	c.2186_2187insC	CCDS9016.1																																																																																				0.465	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		7	95						7	95	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						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						ACTGCTTTACGCCCCCCGCAGC	0.495										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.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	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.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	216						7	216	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3214-3216)cgtfs		UHRF1 binding protein 1-like																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs		Somatic				UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	p.R1072fs	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	3427_3428	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		9	209						9	209	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104171648	104171649	+	Frame_Shift_Ins	INS	-	-	G	rs534800414		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:104171648_104171649insG	ENST00000392876.3	-	14	1645_1646	c.1605_1606insC	c.(1603-1608)cccaccfs	p.T536fs		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	536						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTCCGAAGGTGGGGGGCCTTT	0.594																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1603-1608)ccccttfs		5'-nucleotidase domain containing 3																																				SO:0001589	frameshift_variant	51559						hydrolase activity|metal ion binding	g.chr12:104171648_104171649insG	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1606dupC	12.37:g.104171654_104171654dupG	ENSP00000376615:p.Thr536fs		Somatic					p.L536fs	NM_001031701.2	NP_001026871.1	WXS	Illumina GAIIx	Phase_I	Q86UY8	NT5D3_HUMAN			14	1645_1646	-			536					Q9NUM7|Q9P2T2|Q9P2T3	Frame_Shift_Ins	INS	ENST00000392876.3	37	c.1605_1606insC	CCDS41824.1																																																																																				0.594	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		7	199						7	199	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112130538	112130539	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:112130538_112130539insC	ENST00000313698.4	+	2	180_181	c.25_26insC	c.(25-27)tccfs	p.S9fs	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.S9fs|ACAD10_ENST00000455480.2_Frame_Shift_Ins_p.S9fs	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	9						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S9F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CTGTTTCCAGTCCCCCCGTCTC	0.619																																						ENST00000455480.2																			1	Substitution - Missense(1)	p.S9F(1)	skin(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(25-27)cccfs		acyl-CoA dehydrogenase family, member 10																																				SO:0001589	frameshift_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112130538_112130539insC	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.31dupC	12.37:g.112130544_112130544dupC	ENSP00000325137:p.Ser9fs		Somatic				ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Frame_Shift_Ins_p.P9fs|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Frame_Shift_Ins_p.P9fs	p.P9fs	NM_001136538.1	NP_001130010.1	WXS	Illumina GAIIx	Phase_I	Q6JQN1	ACD10_HUMAN			2	202_203	+			9					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Frame_Shift_Ins	INS	ENST00000313698.4	37	c.25_26insC	CCDS31903.1																																																																																				0.619	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		7	490						7	490	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:113565942_113565943insC	ENST00000261729.5	-	4	478_479	c.163_164insG	c.(163-165)gagfs	p.E55fs	RASAL1_ENST00000546530.1_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.E55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.E55fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)ggafs		RAS protein activator like 1 (GAP1 like)																																				SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565942_113565943insC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.164dupG	12.37:g.113565948_113565948dupC	ENSP00000261729:p.Glu55fs		Somatic				RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs	p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	WXS	Illumina GAIIx	Phase_I	O95294	RASL1_HUMAN			4	448_449	-			55			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Ins	INS	ENST00000261729.5	37	c.163_164insG	CCDS9165.1																																																																																				0.614	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		10	971						10	971	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG			Somatic				SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron				WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	8	713						8	713	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	234						7	234	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.V116fs	NM_002442.3	NP_002433.1	WXS	Illumina GAIIx	Phase_I	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		22	301						22	301	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	WXS	Illumina GAIIx	Phase_I	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		7	242						7	242	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:25262563_25262564insG	ENST00000381946.3	+	4	502_503	c.335_336insG	c.(334-339)gtggggfs	p.VG112fs	ATP12A_ENST00000218548.6_Frame_Shift_Ins_p.VG112fs			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAGCAGATGGTGGGGGGGTTCT	0.584																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - coding silent(1)	p.V112V(1)	lung(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(334-336)gggfs		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)		,	1,4263		0,1,2131					,	5.0	1.0		dbSNP_126	234	5,8249		0,5,4122	no	frameshift,frameshift	ATP12A	NM_001676.5,NM_001185085.1	,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,	,		6,12512				SO:0001589	frameshift_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262563_25262564insG	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.342dupG	13.37:g.25262570_25262570dupG	ENSP00000371372:p.Val112fs		Somatic				ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina GAIIx	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	668_669	+		Lung SC(185;0.0225)|Breast(139;0.077)	112					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Frame_Shift_Ins	INS	ENST00000381946.3	37	c.335_336insG	CCDS31948.1																																																																																				0.584	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		73	1905						73	1905	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29041261	29041262	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:29041261_29041262insC	ENST00000282397.4	-	3	417_418	c.166_167insG	c.(166-168)gaafs	p.E56fs	FLT1_ENST00000541932.1_Frame_Shift_Ins_p.E56fs|FLT1_ENST00000539099.1_Frame_Shift_Ins_p.E56fs	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	56	Ig-like C2-type 1.				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)	ATGGGCTGCTTCCCCCCTGCAA	0.455																																						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.(166-168)agcfs		fms-related tyrosine kinase 1	Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	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.chr13:29041261_29041262insC	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.167dupG	13.37:g.29041267_29041267dupC	ENSP00000282397:p.Glu56fs		Somatic				FLT1_ENST00000541932.1_Frame_Shift_Ins_p.S56fs|FLT1_ENST00000539099.1_Frame_Shift_Ins_p.S56fs	p.S56fs	NM_002019.4	NP_002010.2	WXS	Illumina GAIIx	Phase_I	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)	3	417_418	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	56			Ig-like C2-type 1.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Frame_Shift_Ins	INS	ENST00000282397.4	37	c.166_167insG	CCDS9330.1																																																																																				0.455	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			11	359						11	359	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)cccaaafs	p.K122fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	122						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(361-366)ccaaagfs		mitochondrial ribosomal protein S31																																				SO:0001589	frameshift_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340958_41340959insG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.364dupC	13.37:g.41340964_41340964dupG	ENSP00000315397:p.Lys122fs		Somatic					p.PK121fs	NM_005830.3	NP_005821.2	WXS	Illumina GAIIx	Phase_I	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	399_400	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	121					B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Ins	INS	ENST00000323563.6	37	c.363_364insC	CCDS9372.1																																																																																				0.366	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			12	248						12	248	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1324-1329)gggagafs		kelch repeat and BTB (POZ) domain containing 6																																				SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41705321_41705322insC	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Somatic				KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	p.R443fs	NM_152903.4	NP_690867.3	WXS	Illumina GAIIx	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1560_1561	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	443					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	ENST00000379485.1	37	c.1326_1327insG	CCDS9376.1																																																																																				0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		13	283						13	283	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:76375005_76375006insG	ENST00000341547.4	+	8	2064_2065	c.804_805insG	c.(805-807)gggfs	p.G269fs	LMO7_ENST00000377534.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Frame_Shift_Ins_p.G269fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.G178fs|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	269					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.45																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(802-807)agggggfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76375005_76375006insG	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.810dupG	13.37:g.76375011_76375011dupG	ENSP00000342112:p.Gly269fs		Somatic				RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs	p.RG268fs			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	8	2064_2065	+		Breast(118;0.0992)	268					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Ins	INS	ENST00000341547.4	37	c.804_805insG	CCDS9454.1																																																																																				0.450	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358		7	806						7	806	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:77641916_77641917insG	ENST00000544440.2	-	71	12157_12158	c.12140_12141insC	c.(12139-12141)ccafs	p.P4047fs	MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.P4085fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.P4047fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12253-12255)cgcfs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77641916_77641917insG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12141dupC	13.37:g.77641922_77641922dupG	ENSP00000444596:p.Pro4047fs		Somatic				MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs	p.R4085fs	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	12520_12521	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4047						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.12254_12255insC																																																																																					0.436	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	482						7	482	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327657	88327658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:88327657_88327658insC	ENST00000325089.6	+	2	233_234	c.14_15insC	c.(13-18)tgccccfs	p.CP5fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	5					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACACTTGCTGCCCCCCAGTAA	0.436																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(13-15)tccfs		SLIT and NTRK-like family, member 5																																				SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88327657_88327658insC	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.20dupC	13.37:g.88327663_88327663dupC	ENSP00000366283:p.Cys5fs		Somatic				SLITRK5_ENST00000400028.3_Intron	p.S5fs	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	233_234	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		5					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Ins	INS	ENST00000325089.6	37	c.14_15insC	CCDS9465.1																																																																																				0.436	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	272						7	272	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113487269	113487270	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr13:113487269_113487270insG	ENST00000487903.1	+	14	1579_1580	c.1491_1492insG	c.(1492-1494)gggfs	p.G498fs	ATP11A_ENST00000375630.2_Frame_Shift_Ins_p.G498fs|ATP11A_ENST00000375645.3_Frame_Shift_Ins_p.G498fs|ATP11A_ENST00000283558.8_Frame_Shift_Ins_p.G498fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	498					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)				AATCGCCGGACGGGGGGAAATC	0.619																																						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.(1489-1494)gaggggfs		ATPase, class VI, type 11A																																				SO:0001589	frameshift_variant	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.chr13:113487269_113487270insG	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.1497dupG	13.37:g.113487275_113487275dupG	ENSP00000420387:p.Gly498fs		Somatic				ATP11A_ENST00000283558.8_Frame_Shift_Ins_p.EG497fs|ATP11A_ENST00000375630.2_Frame_Shift_Ins_p.EG497fs|ATP11A_ENST00000375645.3_Frame_Shift_Ins_p.EG497fs	p.EG497fs			WXS	Illumina GAIIx	Phase_I	P98196	AT11A_HUMAN			14	1579_1580	+	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)	497					Q5VXT2	Frame_Shift_Ins	INS	ENST00000487903.1	37	c.1491_1492insG	CCDS32011.1																																																																																				0.619	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		7	349						7	349	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			9	1349						9	1349	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.E1043fs	NM_007192.3	NP_009123.1	WXS	Illumina GAIIx	Phase_I	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			14	598						14	598	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)ccafs	p.P529fs	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.P392fs|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.53																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1585-1587)cggfs		spalt-like transcription factor 2																																				SO:0001589	frameshift_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992275_21992276insG	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1587dupC	14.37:g.21992282_21992282dupG	ENSP00000333537:p.Pro529fs		Somatic				SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	p.R529fs	NM_005407.1	NP_005398.1	WXS	Illumina GAIIx	Phase_I	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1880_1881	-	all_cancers(95;0.000662)		529					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Frame_Shift_Ins	INS	ENST00000327430.3	37	c.1586_1587insC	CCDS32045.1																																																																																				0.530	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	165						8	165	---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)cagfs	p.Q437fs	RBM23_ENST00000555209.1_Frame_Shift_Ins_p.Q187fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.Q421fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.Q403fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.Q267fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505																																						ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(1309-1311)gacfs		RNA binding motif protein 23																																				SO:0001589	frameshift_variant	55147				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23371029_23371030insG	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1310dupC	14.37:g.23371035_23371035dupG	ENSP00000352956:p.Gln437fs		Somatic				RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs	p.D437fs	NM_001077351.1	NP_001070819.1	WXS	Illumina GAIIx	Phase_I	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	13	1504_1505	-	all_cancers(95;4.69e-05)		437					D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Frame_Shift_Ins	INS	ENST00000359890.3	37	c.1309_1310insC	CCDS41921.1																																																																																				0.505	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			11	979						11	979	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G	rs386775580		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)gctfs	p.A447fs	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.A407fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.A447fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.A389fs	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		Somatic				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	WXS	Illumina GAIIx	Phase_I	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		9	371						9	371	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36226074	36226075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:36226074_36226075insG	ENST00000389698.3	-	7	977_978	c.587_588insC	c.(586-588)ccafs	p.P196fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.P196fs|SNORA31_ENST00000517250.1_RNA|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.P196fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	196					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGATTGTGGGGGGACAAG	0.317																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(586-588)ccafs		Ral GTPase activating protein, alpha subunit 1 (catalytic)																																				SO:0001589	frameshift_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36226074_36226075insG	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.588dupC	14.37:g.36226080_36226080dupG	ENSP00000374348:p.Pro196fs		Somatic				RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.P196fs	p.P196fs			WXS	Illumina GAIIx	Phase_I	Q6GYQ0	RGPA1_HUMAN			7	977_978	-			196					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Ins	INS	ENST00000389698.3	37	c.587_588insC	CCDS32065.1																																																																																				0.317	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		9	365						9	365	---	---	---	---
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189|rs200952659		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)cggfs	p.R119fs	ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.R42fs|ABHD12B_ENST00000554241.1_3'UTR|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.R12fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.49																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(355-357)gggfs		abhydrolase domain containing 12B																																				SO:0001589	frameshift_variant	145447						hydrolase activity	g.chr14:51347189_51347190insG	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.361dupG	14.37:g.51347195_51347195dupG	ENSP00000336693:p.Arg119fs		Somatic				ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs	p.G119fs	NM_001206673.1	NP_001193602.1	WXS	Illumina GAIIx	Phase_I	Q7Z5M8	AB12B_HUMAN			4	370_371	+	all_epithelial(31;0.00481)|Breast(41;0.148)		119					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Frame_Shift_Ins	INS	ENST00000337334.2	37	c.355_356insG	CCDS55916.1																																																																																				0.490	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			14	407						14	407	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_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		Somatic				GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					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		12	182						12	182	---	---	---	---
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs139927975|rs113800876|rs367947132	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic								WXS	Illumina GAIIx	Phase_I					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		57	175						57	175	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31362390	31362391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:31362390_31362391insG	ENST00000256552.6	-	4	269_270	c.122_123insC	c.(121-123)cctfs	p.P41fs	TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000542188.1_Frame_Shift_Ins_p.P58fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACTTGGCAGAGGGGGGATATG	0.505																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(172-174)cctfs		transient receptor potential cation channel, subfamily M, member 1																																				SO:0001589	frameshift_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31362390_31362391insG	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.123dupC	15.37:g.31362396_31362396dupG	ENSP00000256552:p.Pro41fs		Somatic				TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.P41fs	p.P58fs	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	486_487	-		all_lung(180;1.92e-11)	19						Frame_Shift_Ins	INS	ENST00000256552.6	37	c.173_174insC	CCDS58346.1																																																																																				0.505	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		10	1142						10	1142	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C	rs370418172		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1863)tgccccfs	p.CP620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCCTGCCCTGCCCCCCACGCT	0.569																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1858-1860)tccfs		thrombospondin 1	Becaplermin(DB00102)																																			SO:0001589	frameshift_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881488_39881489insC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1865dupC	15.37:g.39881494_39881494dupC	ENSP00000260356:p.Cys620fs		Somatic					p.S620fs	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2024_2025	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	620			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Frame_Shift_Ins	INS	ENST00000260356.5	37	c.1859_1860insC	CCDS32194.1																																																																																				0.569	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		8	430						8	430	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42731523	42731524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:42731523_42731524insC	ENST00000263805.4	-	8	4508_4509	c.4182_4183insG	c.(4180-4185)gggaaafs	p.K1395fs	ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.K580fs|ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.K623fs	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1395					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTTGTTACTTTCCCCCCTTTAA	0.465																																						ENST00000263805.4																			0											c.(4180-4185)ggaagtfs		zinc finger protein 106																																				SO:0001589	frameshift_variant	64397							g.chr15:42731523_42731524insC	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4183dupG	15.37:g.42731529_42731529dupC	ENSP00000263805:p.Lys1395fs		Somatic				ZNF106_ENST00000565611.1_Frame_Shift_Ins_p.S580fs|ZNF106_ENST00000565380.1_Frame_Shift_Ins_p.S623fs	p.S1395fs	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					8	4508_4509	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Ins	INS	ENST00000263805.4	37	c.4182_4183insG	CCDS32208.1																																																																																				0.465	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		13	747						13	747	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P1149fs	NM_173814.4	NP_776175.2	WXS	Illumina GAIIx	Phase_I	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	128						7	128	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4222-4224)cccfs	p.P1408fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1408						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.47											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4219-4224)ccccccfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64973566_64973567insC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4227dupC	15.37:g.64973572_64973572dupC	ENSP00000316527:p.Pro1408fs		Somatic	OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1080		p.PP1407fs	NM_015042.1	NP_055857.1	WXS	Illumina GAIIx	Phase_I	O15014	ZN609_HUMAN			8	4349_4350	+			1407					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.4221_4222insC	CCDS32270.1																																																																																				0.470	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		8	537						8	537	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccacafs	p.T872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2611-2616)cccagafs		immunoglobulin superfamily, DCC subclass, member 4																																				SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65681239_65681240insG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2614dupC	15.37:g.65681246_65681246dupG	ENSP00000319623:p.Thr872fs		Somatic					p.R872fs	NM_020962.1	NP_066013.1	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			15	2822_2823	-			872			Fibronectin type-III 5.		Q9HCE4	Frame_Shift_Ins	INS	ENST00000352385.2	37	c.2613_2614insC	CCDS10206.1																																																																																				0.663	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		8	83						8	83	---	---	---	---
SCAMP5	192683	broad.mit.edu	37	15	75311153	75311154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:75311153_75311154insG	ENST00000361900.6	+	8	744_745	c.537_538insG	c.(538-540)gggfs	p.G180fs	SCAMP5_ENST00000545456.1_Frame_Shift_Ins_p.G109fs|SCAMP5_ENST00000425597.3_Frame_Shift_Ins_p.G180fs|SCAMP5_ENST00000562212.1_Frame_Shift_Ins_p.G188fs|SCAMP5_ENST00000568081.1_Frame_Shift_Ins_p.G113fs	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	180					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACCGGGGAAGTGGGGGGAGTTT	0.53																																						ENST00000361900.6																			0				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(535-540)agggggfs		secretory carrier membrane protein 5																																				SO:0001589	frameshift_variant	192683				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75311153_75311154insG	AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.543dupG	15.37:g.75311159_75311159dupG	ENSP00000355387:p.Gly180fs		Somatic				SCAMP5_ENST00000568081.1_Frame_Shift_Ins_p.RG112fs|SCAMP5_ENST00000545456.1_Frame_Shift_Ins_p.RG108fs|SCAMP5_ENST00000425597.3_Frame_Shift_Ins_p.RG179fs|SCAMP5_ENST00000562212.1_Frame_Shift_Ins_p.RG187fs	p.RG179fs	NM_001178111.1	NP_001171582.1	WXS	Illumina GAIIx	Phase_I	Q8TAC9	SCAM5_HUMAN			8	744_745	+			179					B3KPJ7|B7Z762|D3DW71|Q8N3M4	Frame_Shift_Ins	INS	ENST00000361900.6	37	c.537_538insG	CCDS45306.1																																																																																				0.530	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2	NM_138967		7	256						7	256	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		7	316						7	316	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101938609	101938610	+	Splice_Site	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr15:101938609_101938610insT	ENST00000348070.1	-	8	991_992	c.992_993insA	c.(991-993)aag>aaAg	p.K331fs	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Splice_Site_p.K166fs|PCSK6_ENST00000358417.3_Splice_Site_p.K331fs|PCSK6_ENST00000344273.2_Splice_Site_p.K331fs|PCSK6_ENST00000398181.2_Splice_Site_p.K331fs	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	332	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGCC	0.554																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e8+1		proprotein convertase subtilisin/kexin type 6																																				SO:0001630	splice_region_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938609_101938610insT		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.993+1->A	15.37:g.101938614_101938614dupT			Somatic				PCSK6_ENST00000398181.2_Splice_Site_p.R331_splice|PCSK6_ENST00000331826.7_Splice_Site_p.R166_splice|PCSK6_ENST00000344273.2_Splice_Site_p.R331_splice|PCSK6_ENST00000358417.3_Splice_Site_p.R331_splice|PCSK6_ENST00000561177.1_5'UTR	p.R331_splice	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	WXS	Illumina GAIIx	Phase_I	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	991_992	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		332			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Splice_Site	INS	ENST00000348070.1	37	c.993_splice																																																																																					0.554	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	Frame_Shift_Ins	10	584						10	584	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	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			11	813						11	813	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000575558.1_3'UTR	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		Somatic				ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	p.LP402fs	NM_001010845.2	NP_001010845.1	WXS	Illumina GAIIx	Phase_I	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		8	311						8	311	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976647	20976648	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:20976647_20976648insG	ENST00000261383.3	-	53	8557_8558	c.8558_8559insC	c.(8557-8559)ccafs	p.P2853fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2853	Stalk. {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)		TCATGGTCAGTGGGGGGATGTT	0.46																																						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.(8557-8559)cctfs		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.chr16:20976647_20976648insG	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.8559dupC	16.37:g.20976653_20976653dupG	ENSP00000261383:p.Pro2853fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.P2853fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8557_8558	-			2853			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.8558_8559insC	CCDS10594.1																																																																																				0.460	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	521						8	521	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	p.A1401fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	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		16	568						16	568	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G	rs571509663		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CCTATAACAAAGGGGGGGGAAA	0.381																																						ENST00000546471.1																			0																																																			730092							g.chr16:21814059_21814060insG			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21814067_21814067dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.381	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		10	100						10	100	---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23226709	23226710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:23226709_23226710insC	ENST00000300061.2	+	13	2012_2013	c.1869_1870insC	c.(1870-1872)cccfs	p.P624fs	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	624					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)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCGGCACACCGCCCCCCAAATA	0.559																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1867-1872)ccccccfs		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)																																			SO:0001589	frameshift_variant	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226709_23226710insC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1875dupC	16.37:g.23226715_23226715dupC	ENSP00000300061:p.Pro624fs		Somatic					p.PP623fs	NM_001039.3	NP_001030.2	WXS	Illumina GAIIx	Phase_I	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	2012_2013	+			623					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Frame_Shift_Ins	INS	ENST00000300061.2	37	c.1869_1870insC	CCDS10608.1																																																																																				0.559	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		9	205						9	205	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25232874	25232875	+	Frame_Shift_Ins	INS	-	-	G	rs373506859|rs141164855	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				AQP8_ENST00000566125.1_Frame_Shift_Ins_p.LG113fs	p.LG119fs	NM_001169.2	NP_001160.2	WXS	Illumina GAIIx	Phase_I	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	179						7	179	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3733-3735)gggfs	p.G1245fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1245	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3730-3735)gcggggfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30733909_30733910insG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3738dupG	16.37:g.30733915_30733915dupG	ENSP00000262518:p.Gly1245fs		Somatic				SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	p.AG1244fs	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		23	4117_4118	+			1244			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.3732_3733insG	CCDS10689.2																																																																																				0.614	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	772						7	772	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31308913	31308914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:31308913_31308914insC	ENST00000287497.8	+	13	1510_1511	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs	ITGAM_ENST00000544665.3_Frame_Shift_Ins_p.A479fs			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	479					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTCATCGGGGCCCCCCATTAC	0.673																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1435-1437)cccfs		integrin, alpha M (complement component 3 receptor 3 subunit)																																				SO:0001589	frameshift_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308913_31308914insC	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1441dupC	16.37:g.31308919_31308919dupC	ENSP00000287497:p.Ala479fs		Somatic				ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs	p.P479fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			13	1506_1507	+			479					Q4VAK0|Q4VAK1|Q4VAK2	Frame_Shift_Ins	INS	ENST00000287497.8	37	c.1435_1436insC	CCDS45470.1																																																																																				0.673	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		7	344						7	344	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422475	31422476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:31422475_31422476insC	ENST00000389202.2	+	13	1484_1485	c.1435_1436insC	c.(1435-1437)gccfs	p.A479fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	479					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCATTGGGGCCCCCCATTAC	0.649																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1435-1437)cccfs		integrin, alpha D																																				SO:0001589	frameshift_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422475_31422476insC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1441dupC	16.37:g.31422481_31422481dupC	ENSP00000373854:p.Ala479fs		Somatic					p.P479fs	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1484_1485	+			479					Q15575|Q15576	Frame_Shift_Ins	INS	ENST00000389202.2	37	c.1435_1436insC	CCDS32438.1																																																																																				0.649	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		8	716						8	716	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(856-858)cccfs	p.P286fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	286					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(853-858)ctccccfs		naked cuticle homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667134_50667135insC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.862dupC	16.37:g.50667141_50667141dupC	ENSP00000268459:p.Pro286fs		Somatic					p.LP285fs	NM_033119.4	NP_149110.1	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1079_1080	+		all_cancers(37;0.229)	285					B2RC39|Q8WZ08	Frame_Shift_Ins	INS	ENST00000268459.3	37	c.855_856insC	CCDS10743.1																																																																																				0.599	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			8	101						8	101	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58581467	58581468	+	Splice_Site	DEL	CA	CA	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:58581467_58581468delCA	ENST00000317147.5	-	26	3972		c.e26+1		SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGATGAAACTCACAGTGTGTAA	0.356																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.e26+1		CCR4-NOT transcription complex, subunit 1																																				SO:0001630	splice_region_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581467_58581468delCA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3639+1TG>-	16.37:g.58581469_58581470delCA			Somatic				CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Splice_Site		NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	26	3972	-								Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	DEL	ENST00000317147.5	37		CCDS10799.1																																																																																				0.356	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Intron	33	68						33	68	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		Somatic				C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		13	306						13	306	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68021467	68021468	+	Frame_Shift_Ins	INS	-	-	G	rs1133090	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr16:68021467_68021468insG	ENST00000572888.1	-	10	2052_2053	c.1402_1403insC	c.(1402-1404)cacfs	p.H468fs	DPEP2_ENST00000412757.2_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	468			H -> D (in dbSNP:rs1133090).		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)		TGGGGCCATGTGGGGGGAGGAC	0.545																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1402-1404)catfs		dipeptidase 2																																				SO:0001589	frameshift_variant	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.chr16:68021467_68021468insG	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.1403dupC	16.37:g.68021473_68021473dupG	ENSP00000458977:p.His468fs		Somatic				DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs	p.H468fs			WXS	Illumina GAIIx	Phase_I	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	12	2067_2068	-		Ovarian(137;0.192)	468		H -> D (in dbSNP:rs1133090).			B2RCF8|Q6UX92|Q8TC95	Frame_Shift_Ins	INS	ENST00000572888.1	37	c.1402_1403insC	CCDS10857.1																																																																																				0.545	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		20	1123						20	1123	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.R2991fs	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	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			7	1050						7	1050	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs		Somatic					p.GP328fs	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		7	143						7	143	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs562474149|rs35554312	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cccatgfs	p.M625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.M652fs	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		Somatic				SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	p.V625fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	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		8	221						8	221	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.K1237fs	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	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		7	621						7	621	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron	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		Somatic				FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	p.D90fs	NM_001098832.1	NP_001092302.1	WXS	Illumina GAIIx	Phase_I	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		8	151						8	151	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567075	45567076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr18:45567075_45567076insC	ENST00000588982.1	-	3	904_905	c.403_404insG	c.(403-405)gagfs	p.E135fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.E135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.E135fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	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						gtcatcctcctcccccccgtcc	0.574																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(403-405)ggafs		zinc finger and BTB domain containing 7C																																				SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567075_45567076insC	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.404dupG	18.37:g.45567082_45567082dupC	ENSP00000468782:p.Glu135fs		Somatic				ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.G135fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.G135fs	p.G135fs			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			3	904_905	-			135			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Ins	INS	ENST00000588982.1	37	c.403_404insG	CCDS32830.1																																																																																				0.574	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		11	117						11	117	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaaagfs	p.K523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.52											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1564-1569)ggaggafs		alpha-kinase 2																																				SO:0001589	frameshift_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246441_56246442insC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1566_1567insG	18.37:g.56246441_56246442insC	ENSP00000354991:p.Lys523fs		Somatic	OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.G523fs	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			4	1779_1780	-			523					Q6ZUX0|Q8NAT5|Q96L95	Frame_Shift_Ins	INS	ENST00000361673.3	37	c.1566_1567insG	CCDS11966.2																																																																																				0.520	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		12	585						12	585	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)ggtfs	p.G141fs	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ACCCCGTGCCACCCCCCAGCGA	0.649																																						ENST00000264071.2																			0											c.(421-423)gggfs		tubulin, beta 4A class IVa																																				SO:0001589	frameshift_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496087_6496088insC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.423dupG	19.37:g.6496093_6496093dupC	ENSP00000264071:p.Gly141fs		Somatic				TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR	p.G141fs			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	793_794	-			141					B3KQP4|Q969E5	Frame_Shift_Ins	INS	ENST00000264071.2	37	c.422_423insG	CCDS12168.1																																																																																				0.649	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		9	226						9	226	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	p.D215fs	NM_005490.2	NP_005481.2	WXS	Illumina GAIIx	Phase_I	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		30	484						30	484	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7807934	7807935	+	Frame_Shift_Ins	INS	-	-	G	rs374114895		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:7807934_7807935insG	ENST00000315599.7	-	7	1227_1228	c.1205_1206insC	c.(1204-1206)cctfs	p.P402fs	CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	402					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)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACGCAGGAGGGGGGTTTGG	0.5																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1204-1206)cccfs		CD209 molecule																																				SO:0001589	frameshift_variant	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.chr19:7807934_7807935insG	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.1206dupC	19.37:g.7807940_7807940dupG	ENSP00000315477:p.Pro402fs		Somatic				CD209_ENST00000301357.8_Frame_Shift_Ins_p.P266fs|CD209_ENST00000601951.1_Frame_Shift_Ins_p.P378fs|CD209_ENST00000593821.1_Frame_Shift_Ins_p.P266fs|CD209_ENST00000593660.1_Frame_Shift_Ins_p.P332fs|CD209_ENST00000354397.6_Frame_Shift_Ins_p.P396fs|CD209_ENST00000394161.5_Frame_Shift_Ins_p.P166fs|CD209_ENST00000394173.4_Frame_Shift_Ins_p.P241fs|CD209_ENST00000315591.8_Frame_Shift_Ins_p.P378fs|CD209_ENST00000204801.8_Frame_Shift_Ins_p.P358fs|CD209_ENST00000602261.1_Frame_Shift_Ins_p.P310fs	p.P402fs	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			7	1227_1228	-			402					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Frame_Shift_Ins	INS	ENST00000315599.7	37	c.1205_1206insC	CCDS12186.1																																																																																				0.500	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		8	777						8	777	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.S7713fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	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		10	519						10	519	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204185	10204186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				ANGPTL6_ENST00000592641.1_Frame_Shift_Ins_p.A354fs|ANGPTL6_ENST00000589181.1_Frame_Shift_Ins_p.A314fs	p.A354fs	NM_031917.2	NP_114123.2	WXS	Illumina GAIIx	Phase_I	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	61						7	61	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs	p.T130fs			WXS	Illumina GAIIx	Phase_I	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		9	207						9	207	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic	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	WXS	Illumina GAIIx	Phase_I	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			10	651						10	651	---	---	---	---
ASF1B	55723	broad.mit.edu	37	19	14232287	14232288	+	Intron	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:14232287_14232288insC	ENST00000263382.3	-	3	902				ASF1B_ENST00000474890.1_Frame_Shift_Ins_p.G153fs|ASF1B_ENST00000592798.1_Intron|CTB-55O6.10_ENST00000590715.1_RNA	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone						cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						ATGGCTGAACTCCCCCCAAGTA	0.47																																						ENST00000474890.1																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(457-459)ggtfs		anti-silencing function 1B histone chaperone																																				SO:0001627	intron_variant	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14232287_14232288insC	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.402+55->G	19.37:g.14232293_14232293dupC			Somatic				ASF1B_ENST00000263382.3_Intron|ASF1B_ENST00000592798.1_Intron	p.G153fs			WXS	Illumina GAIIx	Phase_I	Q9NVP2	ASF1B_HUMAN			3	575_576	-			0			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Frame_Shift_Ins	INS	ENST00000263382.3	37	c.458_459insG	CCDS12306.1																																																																																				0.470	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		7	112						7	112	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.V546fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	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		17	274						17	274	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.*520fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	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		19	523						19	523	---	---	---	---
CD22	933	broad.mit.edu	37	19	35832248	35832249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:35832248_35832249insC	ENST00000085219.5	+	8	1576_1577	c.1510_1511insC	c.(1510-1512)gccfs	p.A504fs	CD22_ENST00000536635.2_Frame_Shift_Ins_p.A416fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.A504fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.A384fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.A332fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.A327fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.A327fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	504					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTCCAGATGCCCCCCGAGAC	0.619																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1510-1512)cccfs		CD22 molecule	OspA lipoprotein(DB00045)																																			SO:0001589	frameshift_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832248_35832249insC	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1516dupC	19.37:g.35832254_35832254dupC	ENSP00000085219:p.Ala504fs		Somatic				CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs|CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs	p.P504fs	NM_001771.3	NP_001762.2	WXS	Illumina GAIIx	Phase_I	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1576_1577	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		504					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Ins	INS	ENST00000085219.5	37	c.1510_1511insC	CCDS12457.1																																																																																				0.619	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	182						7	182	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	p.P1884fs	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	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		11	215						11	215	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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																																						ENST00000406070.2																			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			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	527	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		17	1049						17	1049	---	---	---	---
XRCC1	7515	broad.mit.edu	37	19	44057791	44057792	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:44057791_44057792insG	ENST00000262887.5	-	5	1005_1006	c.458_459insC	c.(457-459)ccafs	p.P153fs	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Frame_Shift_Ins_p.P122fs			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	153					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CATCTTTGTCTGGGGGGCTATG	0.629								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(457-459)cgafs	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1																																				SO:0001589	frameshift_variant	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057791_44057792insG	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.459dupC	19.37:g.44057797_44057797dupG	ENSP00000262887:p.Pro153fs		Somatic				XRCC1_ENST00000543982.1_Frame_Shift_Ins_p.R122fs|L34079.3_ENST00000597119.1_RNA	p.R153fs			WXS	Illumina GAIIx	Phase_I	P18887	XRCC1_HUMAN			5	1005_1006	-		Prostate(69;0.0153)	153					Q6IBS4|Q9HCB1	Frame_Shift_Ins	INS	ENST00000262887.5	37	c.458_459insC	CCDS12624.1																																																																																				0.629	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		7	170						7	170	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs	p.P93fs			WXS	Illumina GAIIx	Phase_I	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		7	169						7	169	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|ZNF114_ENST00000597695.1_Intron			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		Somatic				CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	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		15	291						15	291	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49589711	49589712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:49589711_49589712insC	ENST00000598441.1	+	2	264_265	c.40_41insC	c.(40-42)gccfs	p.A14fs	SNRNP70_ENST00000221448.5_Frame_Shift_Ins_p.A14fs			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	14					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R16fs*2(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGCCCTCTTTGCCCCCCGTGAC	0.54																																						ENST00000221448.5																			1	Insertion - Frameshift(1)	p.R16fs*2(1)	skin(1)	cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(40-42)cccfs		small nuclear ribonucleoprotein 70kDa (U1)																																				SO:0001589	frameshift_variant	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49589711_49589712insC		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.46dupC	19.37:g.49589717_49589717dupC	ENSP00000472998:p.Ala14fs		Somatic				SNRNP70_ENST00000598441.1_Frame_Shift_Ins_p.P14fs	p.P14fs	NM_003089.4	NP_003080.2	WXS	Illumina GAIIx	Phase_I	P08621	RU17_HUMAN			2	236_237	+			14					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Frame_Shift_Ins	INS	ENST00000598441.1	37	c.40_41insC	CCDS12756.1																																																																																				0.540	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		7	596						7	596	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)ggafs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1723-1725)gggfs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243087_50243088insC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1725dupG	19.37:g.50243093_50243093dupC	ENSP00000246801:p.Gly575fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	p.G575fs	NM_021733.1	NP_068379.1	WXS	Illumina GAIIx	Phase_I	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1806_1807	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1724_1725insG	CCDS12780.1																																																																																				0.554	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		10	674						10	674	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs	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		Somatic				SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	p.Q681fs	NM_016148.2	NP_057232.2	WXS	Illumina GAIIx	Phase_I	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		8	429						8	429	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				ZNF175_ENST00000436511.2_Intron	p.WG284fs	NM_007147.2	NP_009078.1	WXS	Illumina GAIIx	Phase_I	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		14	678						14	678	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)gatfs	p.D459fs	ZNF577_ENST00000412216.1_5'Flank|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.D431fs|ZNF577_ENST00000485702.1_5'Flank|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.45																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1375-1377)ttcfs		zinc finger protein 649																																				SO:0001589	frameshift_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394013_52394014insC	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1376dupG	19.37:g.52394019_52394019dupC	ENSP00000347043:p.Asp459fs		Somatic				ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA	p.F459fs	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1659_1660	-		all_neural(266;0.0602)	459					A8MYJ5|B2RDC4|Q9H9N2	Frame_Shift_Ins	INS	ENST00000354957.3	37	c.1375_1376insG	CCDS12843.1																																																																																				0.450	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		7	686						7	686	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53644530	53644530	+	Frame_Shift_Del	DEL	T	T	-	rs570953227		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr19:53644530delT	ENST00000334197.7	-	5	1619	c.1551delA	c.(1549-1551)gaafs	p.E517fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.E518fs|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.E518fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	517					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)		CCTTGCCACATTCATTACATT	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.(1552-1554)gafs		zinc finger protein 347							145.0	143.0	144.0					19																	53644530		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644530delT	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.1551delA	19.37:g.53644530delT	ENSP00000334146:p.Glu517fs		Somatic				ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.E518fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.E517fs	p.E518fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1980	-			517					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.1554delA	CCDS33097.1																																																																																				0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		20	341						20	341	---	---	---	---
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C	rs371156741		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)gggcccfs	p.P424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.P373fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	424																	TGCCTGCAGGGCCCCCCCATTC	0.624																																						ENST00000360652.2																			0											c.(1267-1272)ggcctgfs		PC-esterase domain containing 1A																																				SO:0001589	frameshift_variant	64773							g.chr20:2816203_2816204insC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1270dupG	20.37:g.2816210_2816210dupC	ENSP00000353868:p.Pro424fs		Somatic				PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	p.L424fs	NM_022760.3	NP_073597.2	WXS	Illumina GAIIx	Phase_I					8	1771_1772	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Ins	INS	ENST00000360652.2	37	c.1269_1270insG	CCDS13035.1																																																																																				0.624	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		7	122						7	122	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650|rs6084654		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)cggfs	p.R301fs	SMOX_ENST00000379460.2_Frame_Shift_Ins_p.R301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	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		Somatic				SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs	p.G301fs	NM_175839.1	NP_787033.1	WXS	Illumina GAIIx	Phase_I	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		7	104						7	104	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.E81fs	NM_001899.2	NP_001890.1	WXS	Illumina GAIIx	Phase_I	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		18	306						18	306	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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 on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|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)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1351-1353)gggfs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384650_31384651insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		Somatic				DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	p.G451fs	NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			13	1673_1674	+			451			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1352_1353insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		9	207						9	207	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.T379fs|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		Somatic				RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs	p.P379fs			WXS	Illumina GAIIx	Phase_I	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		12	169						12	169	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.F103fs	NM_003064.2	NP_003055.1	WXS	Illumina GAIIx	Phase_I	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			16	306						16	306	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44680421	44680422	+	Frame_Shift_Ins	INS	-	-	G	rs138144890		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:44680421_44680422insG	ENST00000454036.2	+	18	2407_2408	c.2358_2359insG	c.(2359-2361)gggfs	p.G787fs	SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.G764fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	787					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGGGGGCCTCGGGGGGCTGCA	0.599																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2356-2361)ctggggfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680421_44680422insG	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2364dupG	20.37:g.44680427_44680427dupG	ENSP00000387694:p.Gly787fs		Somatic				SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.LG763fs	p.LG786fs	NM_001134771.1	NP_001128243.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			18	2434_2435	+		Myeloproliferative disorder(115;0.0122)	786					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.2358_2359insG	CCDS46610.1																																																																																				0.599	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	305						7	305	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|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		Somatic				SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	p.PP464fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	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			8	475						8	475	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47614920	47614921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:47614920_47614921insC	ENST00000371917.4	+	25	3310_3311	c.3310_3311insC	c.(3310-3312)tccfs	p.S1104fs	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1104					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGAACTGGCTTCCCCCCACCAT	0.505																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3310-3312)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47614920_47614921insC	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3316dupC	20.37:g.47614926_47614926dupC	ENSP00000360985:p.Ser1104fs		Somatic				ARFGEF2_ENST00000493140.1_3'UTR	p.P1104fs	NM_006420.2	NP_006411.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		25	3310_3311	+			1104					Q5TFT9|Q9NTS1	Frame_Shift_Ins	INS	ENST00000371917.4	37	c.3310_3311insC	CCDS13411.1																																																																																				0.505	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		8	473						8	473	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(535-537)cccfs		oxysterol binding protein-like 2			,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	9885				lipid transport		lipid binding	g.chr20:60854257_60854258insC	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		Somatic				OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	p.P179fs	NM_144498.1	NP_653081.1	WXS	Illumina GAIIx	Phase_I	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	738_739	+	Breast(26;7.76e-09)		179					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	ENST00000313733.3	37	c.536_537insC	CCDS13495.1																																																																																				0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		21	196						21	196	---	---	---	---
BMS1P20	96610	broad.mit.edu	37	22	22661173	22661174	+	RNA	INS	-	-	C	rs377142963|rs7410785	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic						NR_027293.1		WXS	Illumina GAIIx	Phase_I					0	265_266	+									RNA	INS	ENST00000426066.1	37																																																																																						0.406	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			26	144						26	144	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)ccafs	p.P143fs	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					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)		ACTGAGTCCCTGGGGGGAGCGA	0.455																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(427-429)cggfs		zinc finger protein 280A																																				SO:0001589	frameshift_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869526_22869527insG	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.429dupC	22.37:g.22869532_22869532dupG	ENSP00000302855:p.Pro143fs		Somatic					p.R143fs	NM_080740.3	NP_542778.1	WXS	Illumina GAIIx	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	680_681	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	143						Frame_Shift_Ins	INS	ENST00000302097.3	37	c.428_429insC	CCDS13800.1																																																																																				0.455	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		11	403						11	403	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	163					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			1	Deletion - Frameshift(1)	p.G163fs*20(1)	lung(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(487-489)ggafs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38895454_38895455insC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.489dupG	22.37:g.38895461_38895461dupC	ENSP00000380033:p.Gly163fs		Somatic				DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	p.G163fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	WXS	Illumina GAIIx	Phase_I	Q92841	DDX17_HUMAN			3	587_588	-	Melanoma(58;0.0286)		84			Helicase ATP-binding.		B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.488_489insG	CCDS46706.1																																																																																				0.381	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		12	252						12	252	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C	rs192926292		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2196)cgccccfs	p.RP731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.RP49fs|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.RP471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.RP99fs	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2191-2193)cccfs		meiosis inhibitor 1																																				SO:0001589	frameshift_variant	150365						binding	g.chr22:42159249_42159250insC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2198dupC	22.37:g.42159255_42159255dupC	ENSP00000384115:p.Arg731fs		Somatic	OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs	p.P731fs	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			19	2232_2233	+			731						Frame_Shift_Ins	INS	ENST00000401548.3	37	c.2192_2193insC	CCDS46718.1																																																																																				0.535	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		8	212						8	212	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic					p.P432fs	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	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		14	300						14	300	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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		Somatic				TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	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		18	513						18	513	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_5'UTR	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		Somatic				TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000355704.3_Intron	p.P30fs	NM_014346.2	NP_055161.1	WXS	Illumina GAIIx	Phase_I	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		32	867						32	867	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	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			Somatic				SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs	p.R142fs			WXS	Illumina GAIIx	Phase_I					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		16	337						16	337	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)ccgfs	p.P142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.P142fs	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		Somatic				SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	p.R142fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	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		8	402						8	402	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73960933	73960934	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	818f24cc-3da2-4e14-abfa-fde070a2c02f	g.chrX:73960933_73960934insT	ENST00000055682.6	-	3	4069_4070	c.3458_3459insA	c.(3457-3459)aacfs	p.N1153fs		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1153					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAGGCAAGGGTTTTTTTGGAG	0.401																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3457-3459)accfs		KIAA2022																																				SO:0001589	frameshift_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960933_73960934insT		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3459dupA	X.37:g.73960940_73960940dupT	ENSP00000055682:p.Asn1153fs		Somatic				KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.T1153fs	p.T1153fs			WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	4109_4110	-			1153					A7YY87|Q5JUX9|Q8IVE9	Frame_Shift_Ins	INS	ENST00000055682.6	37	c.3458_3459insA	CCDS35337.1																																																																																				0.401	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		7	216						7	216	---	---	---	---
TXNIP	10628	broad.mit.edu	37	1	145440062	145440064	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:145440062_145440064delAAG	ENST00000369317.4	+	4	830_832	c.496_498delAAG	c.(496-498)aagdel	p.K167del	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	167					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAAAAAGAAAAGAAAGTTTCCT	0.414																																						ENST00000369317.4																			1	Substitution - Missense(1)	p.K166R(1)	ovary(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(496-498)del		thioredoxin interacting protein																																				SO:0001651	inframe_deletion	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440062_145440064delAAG	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.496_498delAAG	1.37:g.145440062_145440064delAAG	ENSP00000358323:p.Lys167del		Somatic				TXNIP_ENST00000475171.1_Intron	p.K167del	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	Q9H3M7	TXNIP_HUMAN			4	830_832	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		167					B4E3D3|Q16226|Q6PML0|Q9BXG9	In_Frame_Del	DEL	ENST00000369317.4	37	c.496_498delAAG	CCDS913.1																																																																																				0.414	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		16	402						16	402	---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155148403	155148404	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:155148403_155148404insC	ENST00000334634.4	+	3	365_366	c.365_366insC	c.(364-369)caccccfs	p.HP122fs	TRIM46_ENST00000368382.1_Frame_Shift_Ins_p.HP99fs|TRIM46_ENST00000368383.3_Frame_Shift_Ins_p.HP122fs|TRIM46_ENST00000545012.1_5'UTR|KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000543729.1_Frame_Shift_Ins_p.HP129fs|KRTCAP2_ENST00000490672.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368385.4_Frame_Shift_Ins_p.HP122fs|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000392451.2_Frame_Shift_Ins_p.HP122fs	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	122						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTGCTTTGCACCCCCAAGTGA	0.614																																						ENST00000392451.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29						c.(364-366)cccfs		tripartite motif containing 46																																				SO:0001589	frameshift_variant	80128					intracellular	zinc ion binding	g.chr1:155148403_155148404insC		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.370dupC	1.37:g.155148408_155148408dupC	ENSP00000334657:p.His122fs		Somatic				TRIM46_ENST00000368383.3_Frame_Shift_Ins_p.P122fs|TRIM46_ENST00000545012.1_5'UTR|TRIM46_ENST00000368382.1_Frame_Shift_Ins_p.P99fs|TRIM46_ENST00000543729.1_Frame_Shift_Ins_p.P129fs|TRIM46_ENST00000368385.4_Frame_Shift_Ins_p.P122fs|TRIM46_ENST00000334634.4_Frame_Shift_Ins_p.P122fs|TRIM46_ENST00000468878.1_3'UTR	p.P122fs			WXS	Illumina GAIIx	Phase_I	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	448_449	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		122					A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Frame_Shift_Ins	INS	ENST00000334634.4	37	c.365_366insC	CCDS1097.1																																																																																				0.614	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		8	678						8	678	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179084038	179084039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:179084038_179084039insG	ENST00000502732.1	-	9	1738_1739	c.1535_1536insC	c.(1534-1536)cctfs	p.P512fs	ABL2_ENST00000408940.3_Frame_Shift_Ins_p.P476fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.P512fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.P491fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.P497fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.P491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.P497fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.P476fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.P491fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	512	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CATAAACCTTAGGGGGGCATCC	0.386			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1534-1536)caafs		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)																																			SO:0001589	frameshift_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084038_179084039insG	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1536dupC	1.37:g.179084044_179084044dupG	ENSP00000427562:p.Pro512fs		Somatic				ABL2_ENST00000512653.1_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.Q512fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.Q491fs	p.Q512fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			9	1738_1739	-			512			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Ins	INS	ENST00000502732.1	37	c.1535_1536insC	CCDS30947.1																																																																																				0.386	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		7	293						7	293	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-411)agccccfs	p.SP136fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.SP136fs|PROX1_ENST00000435016.1_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		Somatic				PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs	p.T136fs	NM_001270616.1	NP_001257545.1	WXS	Illumina GAIIx	Phase_I	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	657						11	657	---	---	---	---
ZKSCAN7	55888	broad.mit.edu	37	3	44612370	44612375	+	In_Frame_Del	DEL	CAGAAC	CAGAAC	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:44612370_44612375delCAGAAC	ENST00000273320.3	+	6	2197_2202	c.1768_1773delCAGAAC	c.(1768-1773)cagaacdel	p.QN590del	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.QN590del|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	590					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)										AGCCTTCAATCAGAACTCTCAACTCA	0.427																																						ENST00000273320.3																			0											c.(1768-1773)del		zinc finger with KRAB and SCAN domains 7																																				SO:0001651	inframe_deletion	55888							g.chr3:44612370_44612375delCAGAAC	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1768_1773delCAGAAC	3.37:g.44612370_44612375delCAGAAC	ENSP00000273320:p.Gln590_Asn591del		Somatic				ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_In_Frame_Del_p.QN590del	p.QN590del	NM_018651.2	NP_061121.2	WXS	Illumina GAIIx	Phase_I					6	2197_2202	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	In_Frame_Del	DEL	ENST00000273320.3	37	c.1768_1773delCAGAAC	CCDS2715.1																																																																																				0.427	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		8	421						8	421	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(988-990)cccfs	p.P330fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	330					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(985-990)ctccccfs		interleukin 17 receptor B																																				SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53898813_53898814insC	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.993dupC	3.37:g.53898819_53898819dupC	ENSP00000288167:p.Pro330fs		Somatic					p.LP329fs	NM_018725.3	NP_061195.2	WXS	Illumina GAIIx	Phase_I	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	11	996_997	+			329					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Ins	INS	ENST00000288167.3	37	c.987_988insC	CCDS2874.1																																																																																				0.406	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		8	609						8	609	---	---	---	---
SH3RF1	57630	broad.mit.edu	37	4	170057550	170057551	+	Frame_Shift_Ins	INS	-	-	G	rs371090000		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr4:170057550_170057551insG	ENST00000284637.9	-	5	1327_1328	c.986_987insC	c.(985-987)cctfs	p.P329fs	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	329					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGAT	0.569																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(985-987)cgtfs		SH3 domain containing ring finger 1																																				SO:0001589	frameshift_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170057550_170057551insG	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.987dupC	4.37:g.170057556_170057556dupG	ENSP00000284637:p.Pro329fs		Somatic				SH3RF1_ENST00000508685.1_5'UTR	p.R329fs	NM_020870.3	NP_065921.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	5	1327_1328	-		Prostate(90;0.00267)|Renal(120;0.0183)	329					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Frame_Shift_Ins	INS	ENST00000284637.9	37	c.986_987insC	CCDS34099.1																																																																																				0.569	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		8	277						8	277	---	---	---	---
LINC00271	100131814	broad.mit.edu	37	6	135836858	135836859	+	lincRNA	DEL	CT	CT	-	rs148324506		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr6:135836858_135836859delCT	ENST00000421378.2	+	0	147					NR_026805.1		P0C7V0	CF217_HUMAN	long intergenic non-protein coding RNA 271																		ctctctcttgctctctctctct	0.356																																						ENST00000421378.2																			0																																																			100131814							g.chr6:135836858_135836859delCT			6q23.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000231028	ENSG00000231028		"""Long non-coding RNAs"""	32526	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 217"", ""non-protein coding RNA 271"""	C6orf217, NCRNA00271			Standard	NR_026805		Approved		uc010kgm.2	P0C7V0	OTTHUMG00000015632		6.37:g.135836868_135836869delCT			Somatic						NR_026805.1		WXS	Illumina GAIIx	Phase_I					0	147	+									RNA	DEL	ENST00000421378.2	37																																																																																						0.356	LINC00271-003	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000443467.1	NR_026805		2	4						2	4	---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73609131	73609132	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr7:73609131_73609132insC	ENST00000265753.8	+	6	669_670	c.530_531insC	c.(529-534)ggccccfs	p.GP177fs	EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.GP157fs|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	177					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						CGGCGAACAGGCCCCCCCATGG	0.569																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(529-531)gccfs		eukaryotic translation initiation factor 4H																																				SO:0001589	frameshift_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609131_73609132insC		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.537dupC	7.37:g.73609138_73609138dupC	ENSP00000265753:p.Gly177fs		Somatic				EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Frame_Shift_Ins_p.A157fs	p.A177fs	NM_022170.1	NP_071496.1	WXS	Illumina GAIIx	Phase_I	Q15056	IF4H_HUMAN			6	669_670	+			177					A8K3R1|D3DXF6|D3DXF8	Frame_Shift_Ins	INS	ENST00000265753.8	37	c.530_531insC	CCDS5564.1																																																																																				0.569	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		8	90						8	90	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88258517	88258518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:88258517_88258518insG	ENST00000305447.4	-	8	2834_2835	c.2685_2686insC	c.(2683-2688)cccaaafs	p.K896fs	GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000455756.2_Intron|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000418177.2_Frame_Shift_Ins_p.K896fs	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	896					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATACTCCCTTTGGGGGTGAAAC	0.485																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2683-2688)ccaaggfs		glutamate receptor, metabotropic 5	Acamprosate(DB00659)																																			SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88258517_88258518insG	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2686dupC	11.37:g.88258522_88258522dupG	ENSP00000306138:p.Lys896fs		Somatic				GRM5_ENST00000393297.1_Splice_Site|GRM5_ENST00000455756.2_Intron|GRM5_ENST00000305432.5_Intron|GRM5_ENST00000305447.4_Frame_Shift_Ins_p.R896fs	p.R896fs			WXS	Illumina GAIIx	Phase_I	P41594	GRM5_HUMAN			9	3052_3053	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	896					Q6J164	Frame_Shift_Ins	INS	ENST00000305447.4	37	c.2685_2686insC	CCDS44694.1																																																																																				0.485	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		7	1319						7	1319	---	---	---	---
RP11-469N6.1	0	broad.mit.edu	37	11	134614688	134614689	+	lincRNA	DEL	GA	GA	-	rs58784206	byFrequency	TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr11:134614688_134614689delGA	ENST00000513405.1	+	0	947																											gagggaatgggagagagagaca	0.545														2486	0.496406	0.444	0.6037	5008	,	,		16456	0.8284		0.339	False		,,,				2504	0.3108					ENST00000513405.1																			0																																																			0							g.chr11:134614688_134614689delGA																													11.37:g.134614696_134614697delGA			Somatic								WXS	Illumina GAIIx	Phase_I					0	947	+									RNA	DEL	ENST00000513405.1	37																																																																																						0.545	RP11-469N6.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000382010.2			2	4						2	4	---	---	---	---
PA2G4	5036	broad.mit.edu	37	12	56504194	56504194	+	Frame_Shift_Del	DEL	A	A	-	rs34197050		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:56504194delA	ENST00000303305.6	+	8	1060	c.641delA	c.(640-642)gaafs	p.E214fs	PA2G4_ENST00000552766.1_Frame_Shift_Del_p.E214fs|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	214					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)			AAGGACCATGAAAAAGCTGAA	0.443																																						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.(640-642)gafs		proliferation-associated 2G4, 38kDa							77.0	74.0	75.0					12																	56504194		2203	4300	6503	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.chr12:56504194delA	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.641delA	12.37:g.56504194delA	ENSP00000302886:p.Glu214fs		Somatic				PA2G4_ENST00000552766.1_Frame_Shift_Del_p.E214fs|RP11-603J24.17_ENST00000548595.1_RNA	p.E214fs	NM_006191.2	NP_006182.2	WXS	Illumina GAIIx	Phase_I	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		8	1060	+			214					O43846|Q9UM59	Frame_Shift_Del	DEL	ENST00000303305.6	37	c.641delA	CCDS8902.1																																																																																				0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		53	117						53	117	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104171648	104171649	+	Frame_Shift_Ins	INS	-	-	G	rs534800414		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr12:104171648_104171649insG	ENST00000392876.3	-	14	1645_1646	c.1605_1606insC	c.(1603-1608)cccaccfs	p.T536fs		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	536						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTCCGAAGGTGGGGGGCCTTT	0.594																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(1603-1608)ccccttfs		5'-nucleotidase domain containing 3																																				SO:0001589	frameshift_variant	51559						hydrolase activity|metal ion binding	g.chr12:104171648_104171649insG	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1606dupC	12.37:g.104171654_104171654dupG	ENSP00000376615:p.Thr536fs		Somatic					p.L536fs	NM_001031701.2	NP_001026871.1	WXS	Illumina GAIIx	Phase_I	Q86UY8	NT5D3_HUMAN			14	1645_1646	-			536					Q9NUM7|Q9P2T2|Q9P2T3	Frame_Shift_Ins	INS	ENST00000392876.3	37	c.1605_1606insC	CCDS41824.1																																																																																				0.594	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		7	199						7	199	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)cccaaafs	p.K122fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	122						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(361-366)ccaaagfs		mitochondrial ribosomal protein S31																																				SO:0001589	frameshift_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340958_41340959insG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.364dupC	13.37:g.41340964_41340964dupG	ENSP00000315397:p.Lys122fs		Somatic					p.PK121fs	NM_005830.3	NP_005821.2	WXS	Illumina GAIIx	Phase_I	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	399_400	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	121					B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Ins	INS	ENST00000323563.6	37	c.363_364insC	CCDS9372.1																																																																																				0.366	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			12	248						12	248	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)gccfs	p.A57fs	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.46																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(169-171)cccfs		olfactory receptor, family 4, subfamily N, member 5																																				SO:0001589	frameshift_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612063_20612064insC		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.175dupC	14.37:g.20612069_20612069dupC	ENSP00000332110:p.Ala57fs		Somatic					p.P57fs	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	169_170	+	all_cancers(95;0.00108)		57					Q6IF11	Frame_Shift_Ins	INS	ENST00000333629.1	37	c.169_170insC	CCDS32031.1																																																																																				0.460	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			9	1349						9	1349	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G	rs370777308		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	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		Somatic					p.P1149fs	NM_173814.4	NP_776175.2	WXS	Illumina GAIIx	Phase_I	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	128						7	128	---	---	---	---
PML	5371	broad.mit.edu	37	15	74328247	74328248	+	Intron	INS	-	-	C			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:74328247_74328248insC	ENST00000268058.3	+	7	1806				PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Frame_Shift_Ins_p.P768fs|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Frame_Shift_Ins_p.P816fs|PML_ENST00000565898.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCCAGAAAGGCCCCCCATCAG	0.629			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(2443-2448)agccccfs		promyelocytic leukemia																																				SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74328247_74328248insC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1376->C	15.37:g.74328253_74328253dupC			Somatic				PML_ENST00000569965.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Frame_Shift_Ins_p.SP767fs|PML_ENST00000268058.3_Intron	p.SP815fs	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	WXS	Illumina GAIIx	Phase_I	P29590	PML_HUMAN			8	2541_2542	+			0					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Frame_Shift_Ins	INS	ENST00000268058.3	37	c.2445_2446insC	CCDS10255.1																																																																																				0.629	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		9	297						9	297	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101938609	101938610	+	Splice_Site	INS	-	-	T			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr15:101938609_101938610insT	ENST00000348070.1	-	8	991_992	c.992_993insA	c.(991-993)aag>aaAg	p.K331fs	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Splice_Site_p.K166fs|PCSK6_ENST00000358417.3_Splice_Site_p.K331fs|PCSK6_ENST00000344273.2_Splice_Site_p.K331fs|PCSK6_ENST00000398181.2_Splice_Site_p.K331fs	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	332	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGCC	0.554																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e8+1		proprotein convertase subtilisin/kexin type 6																																				SO:0001630	splice_region_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938609_101938610insT		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.993+1->A	15.37:g.101938614_101938614dupT			Somatic				PCSK6_ENST00000358417.3_Splice_Site_p.R331_splice|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Splice_Site_p.R331_splice|PCSK6_ENST00000398181.2_Splice_Site_p.R331_splice|PCSK6_ENST00000331826.7_Splice_Site_p.R166_splice	p.R331_splice	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	WXS	Illumina GAIIx	Phase_I	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	991_992	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		332			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Splice_Site	INS	ENST00000348070.1	37	c.993_splice																																																																																					0.554	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	Frame_Shift_Ins	10	584						10	584	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58581467	58581468	+	Splice_Site	DEL	CA	CA	-			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:58581467_58581468delCA	ENST00000317147.5	-	26	3972		c.e26+1		SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000569240.1_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGATGAAACTCACAGTGTGTAA	0.356																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.e26+1		CCR4-NOT transcription complex, subunit 1																																				SO:0001630	splice_region_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581467_58581468delCA	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3639+1TG>-	16.37:g.58581469_58581470delCA			Somatic				CNOT1_ENST00000441024.2_Splice_Site|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Splice_Site		NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	WXS	Illumina GAIIx	Phase_I	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	26	3972	-								Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Splice_Site	DEL	ENST00000317147.5	37		CCDS10799.1																																																																																				0.356	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Intron	33	68						33	68	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs		Somatic				ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA	p.Q591fs			WXS	Illumina GAIIx	Phase_I	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		8	396						8	396	---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53644530	53644530	+	Frame_Shift_Del	DEL	T	T	-	rs570953227		TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr19:53644530delT	ENST00000334197.7	-	5	1619	c.1551delA	c.(1549-1551)gaafs	p.E517fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Frame_Shift_Del_p.E518fs|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.E518fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	517					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)		CCTTGCCACATTCATTACATT	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.(1552-1554)gafs		zinc finger protein 347							145.0	143.0	144.0					19																	53644530		2203	4300	6503	SO:0001589	frameshift_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644530delT	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.1551delA	19.37:g.53644530delT	ENSP00000334146:p.Glu517fs		Somatic				ZNF347_ENST00000601469.2_Frame_Shift_Del_p.E518fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.E517fs	p.E518fs	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1980	-			517					B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	c.1554delA	CCDS33097.1																																																																																				0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		20	341						20	341	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889825	58889826	+	lincRNA	INS	-	-	CCAT			TCGA-AK-3447-01A-01W-0886-08	TCGA-AK-3447-10A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7960c9e-3294-439d-b9d1-8599897e5b7e	71c84ca6-cf65-477c-a5b3-b810e4c8ba73	g.chr20:58889825_58889826insCCAT	ENST00000432910.1	+	0	332					NR_046099.1																						catccatcctcccatcctccca	0.569																																						ENST00000432910.1																			0																																																			284757							g.chr20:58889825_58889826insCCAT																													20.37:g.58889826_58889829dupCCAT			Somatic						NR_046099.1		WXS	Illumina GAIIx	Phase_I					0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
