#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
RASGEF1A	221002	broad.mit.edu	37	10	43693500	43693500	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:43693500C>T	ENST00000395809.1	-	10	3682	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	RASGEF1A_ENST00000374459.1_Silent_p.L400L|RASGEF1A_ENST00000395810.1_Silent_p.L392L|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	392	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGATTTTGTGCAGGAAGTAGA	0.552											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1174-1176)ctG>ctA		RasGEF domain family, member 1A							231.0	211.0	218.0					10																	43693500		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43693500C>T	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1176G>A	10.37:g.43693500C>T			Somatic	OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	RASGEF1A_ENST00000395810.1_Silent_p.L392L|RASGEF1A_ENST00000374459.1_Silent_p.L400L	p.L392L			WXS	Illumina GAIIx	Phase_I	Q8N9B8	RGF1A_HUMAN			10	3682	-			392			Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.1176G>A	CCDS7202.2																																																																																				0.552	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		4	125	0	0	0	1	0	4	125				
UNC79	57578	broad.mit.edu	37	14	93944025	93944025	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:93944025C>A	ENST00000393151.2	+	4	570	c.570C>A	c.(568-570)caC>caA	p.H190Q	UNC79_ENST00000553484.1_Missense_Mutation_p.H190Q|UNC79_ENST00000555664.1_Missense_Mutation_p.H190Q|UNC79_ENST00000256339.4_Missense_Mutation_p.H13Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	190					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATTTCTGCACAAGGATATCA	0.338																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(568-570)caC>caA		unc-79 homolog (C. elegans)							276.0	234.0	248.0					14																	93944025		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93944025C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.570C>A	14.37:g.93944025C>A	ENSP00000376858:p.His190Gln		Somatic				UNC79_ENST00000555664.1_Missense_Mutation_p.H190Q|UNC79_ENST00000256339.4_Missense_Mutation_p.H13Q|UNC79_ENST00000393151.2_Missense_Mutation_p.H190Q	p.H190Q			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			4	724	+			190					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.570C>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.097272	0.76870	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20332	2.08;2.13;2.12;2.12	5.56	4.66	0.58398	.	0.076565	0.51477	D	0.000095	T	0.38665	0.1049	L	0.47190	1.495	0.54753	D	0.999983	D;D	0.76494	0.999;0.96	D;D	0.80764	0.994;0.962	T	0.10941	-1.0608	10	0.87932	D	0	-19.4086	13.8272	0.63357	0.0:0.9271:0.0:0.0729	.	190;190	C9JQL1;Q9P2D8	.;UNC79_HUMAN	Q	13;190;190;190;190	ENSP00000256339:H13Q;ENSP00000450868:H190Q;ENSP00000451360:H190Q;ENSP00000376858:H190Q	ENSP00000256339:H13Q	H	+	3	2	KIAA1409	93013778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.098000	0.50259	2.616000	0.88540	0.650000	0.86243	CAC		0.338	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		13	578	1	0	0.00498961	1	0.00510841	13	578				
ATAD5	79915	broad.mit.edu	37	17	29161396	29161396	+	Silent	SNP	G	G	T	rs114289357	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:29161396G>T	ENST00000321990.4	+	2	675	c.297G>T	c.(295-297)acG>acT	p.T99T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	99					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGACTGTACGACACCTTTGG	0.343																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(295-297)acG>acT		ATPase family, AAA domain containing 5							89.0	93.0	91.0					17																	29161396		2203	4299	6502	SO:0001819	synonymous_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161396G>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.297G>T	17.37:g.29161396G>T			Somatic				CTD-2349P21.11_ENST00000580873.1_RNA	p.T99T	NM_024857.3	NP_079133.3	WXS	Illumina GAIIx	Phase_I	Q96QE3	ATAD5_HUMAN			2	675	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	99					Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	c.297G>T	CCDS11260.1																																																																																				0.343	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		31	86	1	0	6.05902e-23	1	6.70502e-23	31	86				
DHX58	79132	broad.mit.edu	37	17	40253820	40253820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40253820G>A	ENST00000251642.3	-	14	2218	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	666	Repressor domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCACAATGCTGCAGGAAGTCA	0.617											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1996-1998)Cag>Tag		DEXH (Asp-Glu-X-His) box polypeptide 58							83.0	78.0	80.0					17																	40253820		2203	4300	6503	SO:0001587	stop_gained	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40253820G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1996C>T	17.37:g.40253820G>A	ENSP00000251642:p.Gln666*		Somatic	OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	892		p.Q666*	NM_024119.2	NP_077024.2	WXS	Illumina GAIIx	Phase_I	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2218	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	666					Q9HAM6	Nonsense_Mutation	SNP	ENST00000251642.3	37	c.1996C>T	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	38	7.173258	0.98114	.	.	ENSG00000108771	ENST00000251642	.	.	.	5.15	4.16	0.48862	.	0.404905	0.24191	N	0.040706	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.9853	0.64331	0.0:0.309:0.691:0.0	.	.	.	.	X	666	.	ENSP00000251642:Q666X	Q	-	1	0	DHX58	37507346	0.959000	0.32827	0.923000	0.36655	0.942000	0.58702	1.793000	0.38764	1.135000	0.42183	0.561000	0.74099	CAG		0.617	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		6	190	0	0	0	1	0	6	190				
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.e13-2		solute carrier family 43 (amino acid system L transporter), member 1							137.0	127.0	131.0					11																	57256464		2201	4296	6497	SO:0001630	splice_region_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256464T>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1336-2A>T	11.37:g.57256464T>A			Somatic				SLC43A1_ENST00000528450.1_Splice_Site		NM_003627.5	NP_003618.1	WXS	Illumina GAIIx	Phase_I	O75387	LAT3_HUMAN			13	1691	-									Splice_Site	SNP	ENST00000278426.3	37		CCDS7958.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983519	0.35036	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000525764	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4082	0.60926	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC43A1	57013040	1.000000	0.71417	0.943000	0.38184	0.132000	0.20833	7.249000	0.78278	1.819000	0.53055	0.528000	0.53228	.		0.532	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627	Intron	6	119	0	0	0	1	0	6	119				
SPATA31D1	389763	broad.mit.edu	37	9	84607638	84607638	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:84607638C>G	ENST00000344803.2	+	4	2300	c.2253C>G	c.(2251-2253)agC>agG	p.S751R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	751					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCGCATCAAGCTTCCCTAGAA	0.448																																						ENST00000344803.2																			0											c.(2251-2253)agC>agG		SPATA31 subfamily D, member 1							47.0	43.0	44.0					9																	84607638		1819	4070	5889	SO:0001583	missense	389763							g.chr9:84607638C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2253C>G	9.37:g.84607638C>G	ENSP00000341988:p.Ser751Arg		Somatic					p.S751R	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	2300	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2253C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	3.997	-0.003364	0.07773	.	.	ENSG00000214929	ENST00000344803	T	0.05382	3.45	2.57	-5.14	0.02875	.	1.226680	0.05845	N	0.619980	T	0.03871	0.0109	N	0.25890	0.77	0.09310	N	1	B	0.15719	0.014	B	0.20955	0.032	T	0.46034	-0.9220	10	0.13470	T	0.59	-0.3208	4.7379	0.12997	0.1654:0.5361:0.0:0.2984	.	751	Q6ZQQ2	F75D1_HUMAN	R	751	ENSP00000341988:S751R	ENSP00000341988:S751R	S	+	3	2	FAM75D1	83797458	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.110000	0.01334	-1.438000	0.01965	-1.336000	0.01259	AGC		0.448	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	71	0	0	0	1	0	15	71				
MUC17	140453	broad.mit.edu	37	7	100678746	100678746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:100678746C>T	ENST00000306151.4	+	3	4113	c.4049C>T	c.(4048-4050)gCc>gTc	p.A1350V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1350	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTGGTGGCCAGTTCTGCA	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4048-4050)gCc>gTc		mucin 17, cell surface associated							228.0	226.0	227.0					7																	100678746		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678746C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4049C>T	7.37:g.100678746C>T	ENSP00000302716:p.Ala1350Val		Somatic					p.A1350V	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	4113	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1350			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4049C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.616075	0.00828	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.754	-1.51	0.08664	.	.	.	.	.	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46816	-0.9164	9	0.25106	T	0.35	.	1.9067	0.03278	0.308:0.4516:0.0:0.2404	.	1350	Q685J3	MUC17_HUMAN	V	1350	ENSP00000302716:A1350V	ENSP00000302716:A1350V	A	+	2	0	MUC17	100465466	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.000000	0.12993	-1.955000	0.01023	-3.554000	0.00030	GCC		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	343	0	0	0	1	0	7	343				
BIN2	51411	broad.mit.edu	37	12	51693389	51693389	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:51693389A>T	ENST00000267012.4	-	6	578		c.e6+1		BIN2_ENST00000604560.1_Splice_Site|BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000544402.1_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_ENST00000544402.1_Splice_Site|BIN2_ENST00000604560.1_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	8	492	0	0	0	1	0	8	492				
XDH	7498	broad.mit.edu	37	2	31621492	31621492	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:31621492A>G	ENST00000379416.3	-	5	428	c.380T>C	c.(379-381)cTg>cCg	p.L127P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	127					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)	ATTCCGGAGCAGTGTGTACAT	0.547																																					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.(379-381)cTg>cCg		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)						137.0	131.0	133.0					2																	31621492		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.chr2:31621492A>G	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.380T>C	2.37:g.31621492A>G	ENSP00000368727:p.Leu127Pro		Somatic					p.L127P	NM_000379.3	NP_000370.2	WXS	Illumina GAIIx	Phase_I	P47989	XDH_HUMAN			5	428	-	Acute lymphoblastic leukemia(172;0.155)		127					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.380T>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251750	0.80135	.	.	ENSG00000158125	ENST00000379416	T	0.55052	0.54	6.16	6.16	0.99307	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	D	0.84547	0.5496	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90922	0.4784	10	0.87932	D	0	.	15.7887	0.78332	1.0:0.0:0.0:0.0	.	127	P47989	XDH_HUMAN	P	127	ENSP00000368727:L127P	ENSP00000368727:L127P	L	-	2	0	XDH	31474996	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	8.802000	0.91910	2.367000	0.80283	0.528000	0.53228	CTG		0.547	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		4	401	0	0	0	1	0	4	401				
PSD4	23550	broad.mit.edu	37	2	113942608	113942608	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:113942608C>A	ENST00000245796.6	+	3	1326	c.1131C>A	c.(1129-1131)gtC>gtA	p.V377V	PSD4_ENST00000441564.3_Silent_p.V377V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	377					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						caggatgtgtcggatctgatc	0.537																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1129-1131)gtC>gtA		pleckstrin and Sec7 domain containing 4							248.0	217.0	227.0					2																	113942608		2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942608C>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1131C>A	2.37:g.113942608C>A			Somatic				PSD4_ENST00000441564.2_Silent_p.V377V	p.V377V	NM_012455.2	NP_036587.2	WXS	Illumina GAIIx	Phase_I	Q8NDX1	PSD4_HUMAN			3	1326	+			377					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.1131C>A	CCDS33276.1																																																																																				0.537	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		53	1033	1	0	4.86159e-25	1	5.39978e-25	53	1033				
OBSCN	84033	broad.mit.edu	37	1	228459673	228459673	+	Intron	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:228459673C>T	ENST00000422127.1	+	18	5181				RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q1913*|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Q385*|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCAAGGATCAGCCGGTGCA	0.602																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(5737-5739)Cag>Tag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							58.0	52.0	54.0					1																	228459673		876	1990	2866	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228459673C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1798C>T	1.37:g.228459673C>T			Somatic				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Q385*|RP5-1139B12.2_ENST00000602517.1_RNA	p.Q1913*	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			20	5811	+		Prostate(94;0.0405)	896			Ig-like 19.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.5737C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887037	0.72410	.	.	ENSG00000154358	ENST00000359599	.	.	.	4.62	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	8.4101	0.32638	0.1286:0.4867:0.3847:0.0	.	.	.	.	X	385	.	ENSP00000352613:Q385X	Q	+	1	0	OBSCN	226526296	0.067000	0.21026	1.000000	0.80357	0.313000	0.28021	-0.112000	0.10791	1.066000	0.40716	0.511000	0.50034	CAG		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	14	0	0	0	1	0	5	14				
OR6C75	390323	broad.mit.edu	37	12	55758992	55758992	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:55758992A>T	ENST00000343399.3	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	33						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(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTGTTACCTACATGTTAAGT	0.413																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(97-99)tAc>tTc		olfactory receptor, family 6, subfamily C, member 75							147.0	144.0	145.0					12																	55758992		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55758992A>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.98A>T	12.37:g.55758992A>T	ENSP00000368987:p.Tyr33Phe		Somatic					p.Y33F	NM_001005497.1	NP_001005497.1	WXS	Illumina GAIIx	Phase_I	A6NL08	O6C75_HUMAN			1	98	+			33						Missense_Mutation	SNP	ENST00000343399.3	37	c.98A>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457208	0.63401	.	.	ENSG00000187857	ENST00000343399	T	0.04406	3.63	5.27	5.27	0.74061	.	0.000000	0.38897	U	0.001539	T	0.18299	0.0439	M	0.69358	2.11	0.27860	N	0.94044	D	0.76494	0.999	D	0.67900	0.954	T	0.01169	-1.1430	10	0.87932	D	0	.	14.1608	0.65446	1.0:0.0:0.0:0.0	.	33	A6NL08	O6C75_HUMAN	F	33	ENSP00000368987:Y33F	ENSP00000368987:Y33F	Y	+	2	0	OR6C75	54045259	1.000000	0.71417	0.990000	0.47175	0.654000	0.38779	5.828000	0.69307	2.210000	0.71456	0.529000	0.55759	TAC		0.413	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			6	724	0	0	0	1	0	6	724				
PLA1A	51365	broad.mit.edu	37	3	119336869	119336869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:119336869A>T	ENST00000273371.4	+	7	830	c.758A>T	c.(757-759)tAt>tTt	p.Y253F	PLA1A_ENST00000488919.1_Missense_Mutation_p.Y80F|PLA1A_ENST00000494440.1_Missense_Mutation_p.Y237F|PLA1A_ENST00000495992.1_Missense_Mutation_p.Y237F	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	253					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTTCAGGTTATAGTTATCTG	0.428																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(757-759)tAt>tTt		phospholipase A1 member A							182.0	185.0	184.0					3																	119336869		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336869A>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.758A>T	3.37:g.119336869A>T	ENSP00000273371:p.Tyr253Phe		Somatic				PLA1A_ENST00000495992.1_Missense_Mutation_p.Y237F|PLA1A_ENST00000494440.1_Missense_Mutation_p.Y237F|PLA1A_ENST00000488919.1_Missense_Mutation_p.Y80F	p.Y253F	NM_015900.3	NP_056984.1	WXS	Illumina GAIIx	Phase_I	Q53H76	PLA1A_HUMAN			7	830	+			253					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.758A>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945020	0.53079	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.26	5.26	0.73747	Lipase, N-terminal (1);	0.120389	0.64402	D	0.000016	D	0.90998	0.7169	L	0.33189	0.99	0.46279	D	0.998968	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.87465	0.2410	10	0.10111	T	0.7	-20.3531	13.41	0.60938	1.0:0.0:0.0:0.0	.	237;253	Q53H76-3;Q53H76	.;PLA1A_HUMAN	F	253;80;237;237;119	ENSP00000273371:Y253F;ENSP00000420625:Y80F;ENSP00000417326:Y237F;ENSP00000418793:Y237F;ENSP00000417295:Y119F	ENSP00000273371:Y253F	Y	+	2	0	PLA1A	120819559	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.034000	0.76511	1.996000	0.58369	0.454000	0.30748	TAT		0.428	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			6	548	0	0	0	1	0	6	548				
TMEM180	79847	broad.mit.edu	37	10	104231152	104231152	+	Splice_Site	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:104231152A>G	ENST00000238936.4	+	6	1064	c.827A>G	c.(826-828)cAg>cGg	p.Q276R	TMEM180_ENST00000366277.2_Splice_Site_p.Q5R|TMEM180_ENST00000369931.3_Splice_Site_p.Q125R	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	276						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GACCTGGTGCAGGTATGGGGA	0.627																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.e6+1		transmembrane protein 180							74.0	69.0	70.0					10																	104231152		2203	4300	6503	SO:0001630	splice_region_variant	79847					integral to membrane		g.chr10:104231152A>G	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.828+1A>G	10.37:g.104231152A>G			Somatic				TMEM180_ENST00000369931.3_Splice_Site_p.Q125_splice|TMEM180_ENST00000366277.2_Splice_Site_p.Q5_splice	p.Q276_splice	NM_024789.3	NP_079065.2	WXS	Illumina GAIIx	Phase_I	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1064	+		Colorectal(252;0.122)	276					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Splice_Site	SNP	ENST00000238936.4	37	c.828_splice	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	A	31	5.100994	0.94245	.	.	ENSG00000138111	ENST00000366277;ENST00000447593;ENST00000238936;ENST00000369931;ENST00000369930	T	0.81415	-1.49	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90038	0.6889	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.998;0.997;0.986	D	0.89102	0.3490	10	0.25106	T	0.35	.	14.8081	0.69974	1.0:0.0:0.0:0.0	.	125;276;125	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	R	5;125;276;125;5	ENSP00000238936:Q276R	ENSP00000238936:Q276R	Q	+	2	0	TMEM180	104221142	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.553000	0.90686	2.096000	0.63516	0.459000	0.35465	CAG		0.627	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789	Missense_Mutation	26	88	0	0	0	1	0	26	88				
MPND	84954	broad.mit.edu	37	19	4352949	4352949	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:4352949A>G	ENST00000262966.8	+	4	654	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MPND_ENST00000359935.4_Missense_Mutation_p.D196G|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000599840.1_Missense_Mutation_p.D196G	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	196							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		gaggaggaggaCGTTCTGGCA	0.657																																						ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(586-588)gAc>gGc		MPN domain containing							31.0	34.0	33.0					19																	4352949		2005	4165	6170	SO:0001583	missense	84954						peptidase activity	g.chr19:4352949A>G		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.587A>G	19.37:g.4352949A>G	ENSP00000262966:p.Asp196Gly		Somatic				MPND_ENST00000262966.8_Missense_Mutation_p.D196G|MPND_ENST00000359935.4_Missense_Mutation_p.D196G|AC007292.4_ENST00000594776.1_RNA	p.D196G			WXS	Illumina GAIIx	Phase_I	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	4	622	+			196					Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.587A>G	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	a	6.109	0.388446	0.11581	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	.	.	.	3.55	3.55	0.40652	.	0.961025	0.08673	N	0.910633	T	0.22627	0.0546	N	0.04880	-0.145	0.31673	N	0.64414	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.17228	-1.0376	9	0.27082	T	0.32	-11.2763	8.7919	0.34857	1.0:0.0:0.0:0.0	.	196;196;196	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	G	196	.	ENSP00000262966:D196G	D	+	2	0	MPND	4303949	0.749000	0.28305	0.918000	0.36340	0.690000	0.40134	1.043000	0.30316	1.860000	0.53959	0.393000	0.25936	GAC		0.657	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		25	36	0	0	0	1	0	25	36				
LRRK2	120892	broad.mit.edu	37	12	40668383	40668383	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:40668383A>T	ENST00000298910.7	+	15	1714		c.e15-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTGATTTTAGTTCATTGGA	0.308																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.e15-1		leucine-rich repeat kinase 2							107.0	111.0	109.0					12																	40668383		2203	4300	6503	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40668383A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1657-1A>T	12.37:g.40668383A>T			Somatic				LRRK2_ENST00000343742.2_Splice_Site		NM_198578.3	NP_940980.3	WXS	Illumina GAIIx	Phase_I	Q5S007	LRRK2_HUMAN			15	1714	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)						A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37		CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361359	0.61403	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	38954650	1.000000	0.71417	0.988000	0.46212	0.583000	0.36354	7.672000	0.83956	2.326000	0.78906	0.533000	0.62120	.		0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Intron	6	253	0	0	0	1	0	6	253				
DGCR8	54487	broad.mit.edu	37	22	20080431	20080431	+	Splice_Site	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:20080431G>C	ENST00000351989.3	+	8	2134		c.e8+1		DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit						gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AATAAAGCTGGTAACGTGCTT	0.527																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.e8+1		DGCR8 microprocessor complex subunit							122.0	114.0	117.0					22																	20080431		2203	4300	6503	SO:0001630	splice_region_variant	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20080431G>C	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1705+1G>C	22.37:g.20080431G>C			Somatic				DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron		NM_022720.6	NP_073557.3	WXS	Illumina GAIIx	Phase_I	Q8WYQ5	DGCR8_HUMAN			8	2134	+	Colorectal(54;0.0993)							B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Splice_Site	SNP	ENST00000351989.3	37		CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321662	0.81580	.	.	ENSG00000128191	ENST00000351989	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7385	0.91765	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGCR8	18460431	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.476000	0.97823	2.741000	0.93983	0.655000	0.94253	.		0.527	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		Intron	47	175	0	0	0	1	0	47	175				
ALLC	55821	broad.mit.edu	37	2	3727534	3727534	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:3727534C>T	ENST00000252505.3	+	5	410	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	102					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.T83M(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCTTACTTCACGGGAGATTAC	0.532										HNSCC(21;0.051)																												ENST00000252505.3																			2	Substitution - Missense(2)	p.T83M(2)	large_intestine(1)|kidney(1)	breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(247-249)aCg>aTg		allantoicase							137.0	144.0	142.0					2																	3727534		2075	4214	6289	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727534C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.248C>T	2.37:g.3727534C>T	ENSP00000252505:p.Thr83Met	HNSCC(21;0.051)	Somatic					p.T83M	NM_018436.3	NP_060906.3	WXS	Illumina GAIIx	Phase_I	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	410	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	102					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.248C>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	8.179	0.793502	0.16327	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	-3.07	0.05363	Allantoicase domain (1);Galactose-binding domain-like (1);	0.782013	0.12462	N	0.466774	T	0.31389	0.0795	M	0.64260	1.97	0.09310	N	1	P	0.52170	0.951	P	0.44696	0.458	T	0.18713	-1.0328	9	0.59425	D	0.04	-6.5612	4.4518	0.11624	0.2443:0.378:0.0:0.3777	.	102	Q8N6M5	ALLC_HUMAN	M	83	.	ENSP00000252505:T83M	T	+	2	0	ALLC	3705409	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.173000	0.09854	-0.616000	0.05671	-1.268000	0.01426	ACG		0.532	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			94	212	0	0	0	1	0	94	212				
NR2C1	7181	broad.mit.edu	37	12	95416181	95416181	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:95416181T>A	ENST00000333003.5	-	14	1968		c.e14-2			NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1						gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGGATAACCTAAAAAAAGAA	0.328																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.e14-2		nuclear receptor subfamily 2, group C, member 1							117.0	129.0	125.0					12																	95416181		2203	4300	6503	SO:0001630	splice_region_variant	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95416181T>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1638-2A>T	12.37:g.95416181T>A			Somatic						NM_003297.3	NP_003288.2	WXS	Illumina GAIIx	Phase_I	P13056	NR2C1_HUMAN			14	1968	-								A8K5K4|Q15625|Q15626	Splice_Site	SNP	ENST00000333003.5	37		CCDS9051.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.431502	0.25813	.	.	ENSG00000120798	ENST00000333003	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9023	0.58133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR2C1	93940312	1.000000	0.71417	0.939000	0.37840	0.308000	0.27856	8.040000	0.89188	2.095000	0.63458	0.378000	0.23410	.		0.328	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	Intron	5	250	0	0	0	1	0	5	250				
ANAPC4	29945	broad.mit.edu	37	4	25419775	25419775	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:25419775A>T	ENST00000315368.3	+	29	2341		c.e29-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTTTTTTAGTTAAGCTCA	0.328																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.e29-1		anaphase promoting complex subunit 4							130.0	141.0	138.0					4																	25419775		2202	4299	6501	SO:0001630	splice_region_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25419775A>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2200-1A>T	4.37:g.25419775A>T			Somatic				ANAPC4_ENST00000510092.1_Splice_Site		NM_013367.2	NP_037499.2	WXS	Illumina GAIIx	Phase_I	Q9UJX5	APC4_HUMAN			29	2341	+		Breast(46;0.0503)						A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37		CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023355	0.75390	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4325	0.67259	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	25028873	1.000000	0.71417	0.927000	0.36925	0.959000	0.62525	7.431000	0.80335	2.191000	0.70037	0.523000	0.50628	.		0.328	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron	6	153	0	0	0	1	0	6	153				
TRDMT1	1787	broad.mit.edu	37	10	17195548	17195548	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:17195548G>C	ENST00000377799.3	-	10	1080	c.1033C>G	c.(1033-1035)Cct>Gct	p.P345A	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.P299A|TRDMT1_ENST00000457442.2_Missense_Mutation_p.P264A|TRDMT1_ENST00000412821.3_Missense_Mutation_p.P321A|TRDMT1_ENST00000488990.1_Missense_Mutation_p.P222A	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	345	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	ATTTCTTTAGGAGTGAAATAT	0.338																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(1033-1035)Cct>Gct		tRNA aspartic acid methyltransferase 1							152.0	143.0	146.0					10																	17195548		2203	4300	6503	SO:0001583	missense	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17195548G>C	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.1033C>G	10.37:g.17195548G>C	ENSP00000367030:p.Pro345Ala		Somatic				TRDMT1_ENST00000488990.1_Missense_Mutation_p.P222A|TRDMT1_ENST00000457442.2_Missense_Mutation_p.P264A|TRDMT1_ENST00000412821.3_Missense_Mutation_p.P321A|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.P299A|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000377766.5_3'UTR	p.P345A	NM_004412.5	NP_004403.1	WXS	Illumina GAIIx	Phase_I	O14717	TRDMT_HUMAN			10	1080	-			345					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	c.1033C>G	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294610	0.81025	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.991;0.996;0.997	D;D;D;P;P;P	0.87578	0.998;0.935;0.974;0.833;0.893;0.894	T	0.81716	-0.0806	10	0.44086	T	0.13	-20.3298	20.0205	0.97499	0.0:0.0:1.0:0.0	.	222;274;264;299;321;345	B7Z8H2;B7Z1Y7;E7EMI8;O14717-3;O14717-2;O14717	.;.;.;.;.;TRDMT_HUMAN	A	345;321;299;264;222	ENSP00000367030:P345A;ENSP00000409354:P321A;ENSP00000324328:P299A;ENSP00000412256:P264A;ENSP00000419625:P222A	ENSP00000324328:P299A	P	-	1	0	TRDMT1	17235554	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.444000	0.90323	2.801000	0.96364	0.650000	0.86243	CCT		0.338	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		7	30	0	0	0	1	0	7	30				
C1S	716	broad.mit.edu	37	12	7174353	7174353	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7174353G>A	ENST00000406697.1	+	12	1626	c.998G>A	c.(997-999)gGt>gAt	p.G333D	C1S_ENST00000402681.3_Missense_Mutation_p.G166D|C1S_ENST00000360817.5_Missense_Mutation_p.G333D|C1S_ENST00000328916.3_Missense_Mutation_p.G333D			P09871	C1S_HUMAN	complement component 1, s subcomponent	333	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	GGACGTGTTGGTGCAACATCT	0.383																																					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.(997-999)gGt>gAt		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)						150.0	137.0	141.0					12																	7174353		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.chr12:7174353G>A		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.998G>A	12.37:g.7174353G>A	ENSP00000385035:p.Gly333Asp		Somatic				C1S_ENST00000402681.3_Missense_Mutation_p.G166D|C1S_ENST00000360817.5_Missense_Mutation_p.G333D|C1S_ENST00000328916.3_Missense_Mutation_p.G333D	p.G333D			WXS	Illumina GAIIx	Phase_I	P09871	C1S_HUMAN			12	1626	+			333			Sushi 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.998G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	8.046	0.765039	0.15914	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.74	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (3);	0.342239	0.21537	N	0.072959	T	0.69024	0.3065	L	0.51422	1.61	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.52931	-0.8509	10	0.12766	T	0.61	.	10.5159	0.44889	0.0885:0.0:0.9115:0.0	.	333	P09871	C1S_HUMAN	D	333;333;333;321;166	ENSP00000385035:G333D;ENSP00000328173:G333D;ENSP00000354057:G333D;ENSP00000384171:G166D	ENSP00000328173:G333D	G	+	2	0	C1S	7044614	0.010000	0.17322	0.034000	0.17996	0.324000	0.28378	1.642000	0.37207	1.433000	0.47394	0.561000	0.74099	GGT		0.383	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		87	299	0	0	0	1	0	87	299				
SMC1B	27127	broad.mit.edu	37	22	45745648	45745648	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:45745648A>C	ENST00000357450.4	-	23	3455	c.3456T>G	c.(3454-3456)gaT>gaG	p.D1152E	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1152	Ala/Asp-rich (DA-box).				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCCACTTCATCTAAAACAA	0.338																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3454-3456)gaT>gaG		structural maintenance of chromosomes 1B							86.0	82.0	83.0					22																	45745648		1855	4097	5952	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45745648A>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3456T>G	22.37:g.45745648A>C	ENSP00000350036:p.Asp1152Glu		Somatic				SMC1B_ENST00000404354.3_Intron	p.D1152E	NM_148674.3	NP_683515.3	WXS	Illumina GAIIx	Phase_I	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	23	3455	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1152			Ala/Asp-rich (DA-box).		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.3456T>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.721163	0.89205	.	.	ENSG00000077935	ENST00000357450	T	0.50277	0.75	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000026	T	0.74550	0.3731	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81430	-0.0936	10	0.87932	D	0	.	14.3957	0.67010	1.0:0.0:0.0:0.0	.	1152	Q8NDV3-3	.	E	1152	ENSP00000350036:D1152E	ENSP00000350036:D1152E	D	-	3	2	SMC1B	44124312	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.118000	0.57884	1.876000	0.54355	0.377000	0.23210	GAT		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		11	93	0	0	0	1	0	11	93				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	161	0	0	0	1	0	3	161				
GNPTAB	79158	broad.mit.edu	37	12	102158980	102158980	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:102158980G>C	ENST00000299314.7	-	13	1977	c.1715C>G	c.(1714-1716)gCc>gGc	p.A572G	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	572					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTCTTTTGGCTACTTCTGC	0.398																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1714-1716)gCc>gGc		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							185.0	173.0	177.0					12																	102158980		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158980G>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1715C>G	12.37:g.102158980G>C	ENSP00000299314:p.Ala572Gly		Somatic					p.A572G	NM_024312.4	NP_077288.2	WXS	Illumina GAIIx	Phase_I	Q3T906	GNPTA_HUMAN			13	1977	-			572					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1715C>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248999	0.80024	.	.	ENSG00000111670	ENST00000299314	D	0.96685	-4.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	L	0.34521	1.04	0.80722	D	1	P	0.36144	0.539	B	0.34722	0.188	D	0.91372	0.5120	10	0.18710	T	0.47	-20.6029	20.422	0.99049	0.0:0.0:1.0:0.0	.	572	Q3T906	GNPTA_HUMAN	G	572	ENSP00000299314:A572G	ENSP00000299314:A572G	A	-	2	0	GNPTAB	100683111	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.230000	0.95299	2.832000	0.97577	0.655000	0.94253	GCC		0.398	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			4	411	0	0	0	1	0	4	411				
STXBP1	6812	broad.mit.edu	37	9	130420652	130420652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:130420652A>T	ENST00000373299.1	+	4	284		c.e4-1		STXBP1_ENST00000373302.3_Splice_Site	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTTGTTGTCTAGTTGTGGAAG	0.458																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.e4-1		syntaxin binding protein 1							201.0	201.0	201.0					9																	130420652		2203	4300	6503	SO:0001630	splice_region_variant	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130420652A>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.170-1A>T	9.37:g.130420652A>T			Somatic				STXBP1_ENST00000373299.1_Splice_Site		NM_003165.3	NP_003156.1	WXS	Illumina GAIIx	Phase_I	P61764	STXB1_HUMAN			4	308	+								B1AM97|Q28208|Q62759|Q64320|Q96TG8	Splice_Site	SNP	ENST00000373299.1	37		CCDS35146.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353654	0.82243	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	.	.	.	5.65	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7011	0.40187	0.9181:0.0:0.0819:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STXBP1	129460473	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.260000	0.95568	0.982000	0.38575	0.528000	0.53228	.		0.458	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	Intron	5	250	0	0	0	1	0	5	250				
MIA	8190	broad.mit.edu	37	19	41281737	41281737	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:41281737G>A	ENST00000263369.3	+	2	374	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	RAB4B-EGLN2_ENST00000594136.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.V70M|MIA_ENST00000594436.1_Missense_Mutation_p.V70M|RAB4B_ENST00000594800.1_5'Flank|MIA_ENST00000597784.1_Missense_Mutation_p.V70M	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		GGGCCAAGTGGTGTATGTCTT	0.592																																						ENST00000600729.1																			0											c.(208-210)Gtg>Atg									65.0	65.0	65.0					19																	41281737		2203	4300	6503	SO:0001583	missense	100529262							g.chr19:41281737G>A	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.208G>A	19.37:g.41281737G>A	ENSP00000263369:p.Val70Met		Somatic				MIA_ENST00000263369.3_Missense_Mutation_p.V70M|MIA_ENST00000594436.1_Missense_Mutation_p.V70M|MIA_ENST00000597784.1_Missense_Mutation_p.V70M	p.V70M			WXS	Illumina GAIIx	Phase_I					3	630	+								Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.208G>A	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620769	0.66787	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.20200	2.09	5.1	4.07	0.47477	Src homology-3 domain (3);Variant SH3 (1);	0.227117	0.30392	U	0.009738	T	0.41396	0.1157	M	0.83483	2.645	0.30924	N	0.727653	P	0.50943	0.94	P	0.59889	0.865	T	0.50136	-0.8863	10	0.87932	D	0	0.4303	7.8492	0.29444	0.0879:0.1653:0.7468:0.0	.	70	Q16674	MIA_HUMAN	M	70	ENSP00000263369:V70M	ENSP00000263369:V70M	V	+	1	0	RAB4B	45973577	0.972000	0.33761	0.132000	0.22025	0.983000	0.72400	1.678000	0.37586	2.345000	0.79718	0.561000	0.74099	GTG		0.592	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			3	92	0	0	0	1	0	3	92				
ZNF749	388567	broad.mit.edu	37	19	57955948	57955948	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:57955948A>C	ENST00000334181.4	+	3	1682	c.1432A>C	c.(1432-1434)Att>Ctt	p.I478L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GAGGATTGACATTAGGCCAAG	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1432-1434)Att>Ctt		zinc finger protein 749							85.0	79.0	81.0					19																	57955948		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955948A>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1432A>C	19.37:g.57955948A>C	ENSP00000333980:p.Ile478Leu		Somatic				AC004076.9_ENST00000596831.1_Intron	p.I478L	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1682	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	478						Missense_Mutation	SNP	ENST00000334181.4	37	c.1432A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	8.220	0.802169	0.16397	.	.	ENSG00000186230	ENST00000334181	T	0.14266	2.52	1.3	0.242	0.15498	.	.	.	.	.	T	0.06050	0.0157	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35101	-0.9802	9	0.87932	D	0	.	4.549	0.12103	0.7947:0.0:0.2053:0.0	.	478	O43361	ZN749_HUMAN	L	478	ENSP00000333980:I478L	ENSP00000333980:I478L	I	+	1	0	ZNF749	62647760	0.466000	0.25823	0.000000	0.03702	0.001000	0.01503	1.749000	0.38319	0.016000	0.14998	0.377000	0.23210	ATT		0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	373	0	0	0	1	0	4	373				
SEC16B	89866	broad.mit.edu	37	1	177909747	177909747	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:177909747C>T	ENST00000308284.6	-	17	2214	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	709					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCACTCACCTCCAGCTGCCTC	0.557																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(2125-2127)Gag>Aag		SEC16 homolog B (S. cerevisiae)							39.0	50.0	47.0					1																	177909747		2172	4262	6434	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177909747C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2125G>A	1.37:g.177909747C>T	ENSP00000308339:p.Glu709Lys		Somatic				RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	p.E709K	NM_033127.2	NP_149118.2	WXS	Illumina GAIIx	Phase_I	Q96JE7	SC16B_HUMAN			17	2214	-			709					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2125G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115605	0.37339	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.14266	2.52	5.64	-3.99	0.04069	.	1.125260	0.06514	N	0.738601	T	0.08358	0.0208	N	0.16478	0.41	0.22479	N	0.999063	B;B;B;B	0.15719	0.014;0.004;0.002;0.004	B;B;B;B	0.19666	0.026;0.014;0.016;0.008	T	0.44832	-0.9302	10	0.07325	T	0.83	-5.2183	15.1807	0.72956	0.0:0.2583:0.6655:0.0762	.	264;710;709;406	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	K	709;393;424	ENSP00000308339:E709K	ENSP00000239472:E424K	E	-	1	0	AL359075.1	176176370	0.014000	0.17966	0.475000	0.27278	0.132000	0.20833	-0.406000	0.07187	-0.556000	0.06134	-0.938000	0.02693	GAG		0.557	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		7	65	0	0	0	1	0	7	65				
USP34	9736	broad.mit.edu	37	2	61413601	61413601	+	IGR	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:61413601C>G	ENST00000398571.2	-	0	11357				AHSA2_ENST00000357022.2_Missense_Mutation_p.I71M|AHSA2_ENST00000410073.1_Missense_Mutation_p.I80M|AHSA2_ENST00000394457.3_Missense_Mutation_p.I71M|AHSA2_ENST00000489653.1_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGAAGATCATCATGAAATGGA	0.363																																						ENST00000394457.2																			0				breast(1)|lung(3)|prostate(1)	5						c.(211-213)atC>atG		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							101.0	105.0	104.0					2																	61413601		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61413601C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61413601C>G			Somatic				AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.I80M|AHSA2_ENST00000357022.2_Missense_Mutation_p.I71M	p.I71M	NM_152392.3	NP_689605.1	WXS	Illumina GAIIx	Phase_I	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		5	1956	+			233					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.213C>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247606	0.39697	.	.	ENSG00000173209	ENST00000357022;ENST00000394457;ENST00000430934;ENST00000410073	.	.	.	5.92	4.95	0.65309	.	0.382752	0.25132	N	0.032897	T	0.31482	0.0798	L	0.29908	0.895	0.22489	N	0.999054	B	0.34103	0.437	B	0.35353	0.201	T	0.31166	-0.9953	9	0.72032	D	0.01	.	9.5772	0.39465	0.0:0.8739:0.0:0.1261	.	233	Q719I0	AHSA2_HUMAN	M	71;71;234;80	.	ENSP00000349525:I71M	I	+	3	3	AHSA2	61267105	1.000000	0.71417	0.999000	0.59377	0.694000	0.40290	1.470000	0.35354	2.818000	0.97014	0.655000	0.94253	ATC		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			37	74	0	0	0	1	0	37	74				
DPM1	8813	broad.mit.edu	37	20	49576416	49576416	+	5'Flank	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:49576416A>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.D346V	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGACTGCTGGATTCTGGGGCA	0.542																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1036-1038)gAt>gTt		molybdenum cofactor synthesis 3							177.0	176.0	176.0					20																	49576416		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576416A>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576416A>T	Exception_encountered		Somatic					p.D346V	NM_014484.3	NP_055299.1	WXS	Illumina GAIIx	Phase_I	O95396	MOCS3_HUMAN			1	1054	+			346					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.1037A>T	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.543903	0.45280	.	.	ENSG00000124217	ENST00000244051	T	0.29917	1.55	5.01	5.01	0.66863	Rhodanese-like (2);Molybdenum cofactor biosynthesis, MoeB (1);	0.051267	0.85682	D	0.000000	T	0.43875	0.1267	M	0.85542	2.76	0.80722	D	1	B	0.33135	0.399	B	0.39465	0.3	T	0.44112	-0.9349	9	.	.	.	-17.9186	13.4412	0.61114	1.0:0.0:0.0:0.0	.	346	O95396	MOCS3_HUMAN	V	346	ENSP00000244051:D346V	.	D	+	2	0	MOCS3	49009823	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	4.775000	0.62346	2.110000	0.64415	0.459000	0.35465	GAT		0.542	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		141	286	0	0	0	1	0	141	286				
KIAA1551	55196	broad.mit.edu	37	12	32137779	32137779	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:32137779T>G	ENST00000312561.4	+	4	4304	c.3890T>G	c.(3889-3891)tTg>tGg	p.L1297W	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1297																	AGAAAAAAATTGAGGTTTCAC	0.358																																						ENST00000312561.4																			0											c.(3889-3891)tTg>tGg		KIAA1551							51.0	52.0	52.0					12																	32137779		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32137779T>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3890T>G	12.37:g.32137779T>G	ENSP00000310338:p.Leu1297Trp		Somatic				KIAA1551_ENST00000535596.1_Intron	p.L1297W	NM_018169.3	NP_060639.3	WXS	Illumina GAIIx	Phase_I					4	4304	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3890T>G	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613156	0.46631	.	.	ENSG00000174718	ENST00000312561	T	0.15834	2.39	5.21	1.33	0.21861	.	1.081500	0.07286	N	0.871642	T	0.14700	0.0355	L	0.29908	0.895	0.09310	N	1	P	0.49862	0.929	P	0.45577	0.486	T	0.22173	-1.0224	9	.	.	.	.	5.5617	0.17148	0.0:0.1424:0.1491:0.7085	.	1297	Q9HCM1	CL035_HUMAN	W	1297	ENSP00000310338:L1297W	.	L	+	2	0	C12orf35	32029046	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.332000	0.19751	-0.017000	0.14103	0.460000	0.39030	TTG		0.358	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		11	32	0	0	0	1	0	11	32				
PPP6R3	55291	broad.mit.edu	37	11	68355413	68355413	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:68355413A>G	ENST00000393800.2	+	16	1905	c.1651A>G	c.(1651-1653)Atg>Gtg	p.M551V	PPP6R3_ENST00000265637.4_Intron|PPP6R3_ENST00000524845.1_Missense_Mutation_p.M522V|PPP6R3_ENST00000393799.2_Missense_Mutation_p.M551V|PPP6R3_ENST00000393801.3_Missense_Mutation_p.M551V|PPP6R3_ENST00000527403.2_Splice_Site_p.M516V|PPP6R3_ENST00000534534.1_Missense_Mutation_p.M319V|PPP6R3_ENST00000529710.1_Missense_Mutation_p.M471V|PPP6R3_ENST00000524904.1_Splice_Site_p.M545V|PPP6R3_ENST00000265636.5_Missense_Mutation_p.M471V	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	551					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATTATCAGATGCAACAAAT	0.383																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1651-1653)Atg>Gtg		protein phosphatase 6, regulatory subunit 3							218.0	193.0	201.0					11																	68355413		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68355413A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1651A>G	11.37:g.68355413A>G	ENSP00000377389:p.Met551Val		Somatic				PPP6R3_ENST00000524845.1_Missense_Mutation_p.M522V|PPP6R3_ENST00000393801.3_Missense_Mutation_p.M551V|PPP6R3_ENST00000534534.1_Missense_Mutation_p.M319V|PPP6R3_ENST00000393800.2_Missense_Mutation_p.M551V|PPP6R3_ENST00000529710.1_Missense_Mutation_p.M471V|PPP6R3_ENST00000265637.4_Intron|PPP6R3_ENST00000527403.2_Splice_Site_p.M516_splice|PPP6R3_ENST00000524904.1_Splice_Site_p.M545_splice|PPP6R3_ENST00000265636.5_Missense_Mutation_p.M471V	p.M551V			WXS	Illumina GAIIx	Phase_I	Q5H9R7	PP6R3_HUMAN			16	1918	+			551					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1651A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537311	0.65085	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T	0.24908	1.91;1.91;1.9;1.85;1.91;1.91;1.83;1.83;1.96;1.84	5.97	5.97	0.96955	.	0.039520	0.85682	D	0.000000	T	0.36908	0.0984	L	0.33485	1.01	0.58432	D	0.999998	D;D;B;B;B;B;D;B	0.63880	0.989;0.969;0.178;0.178;0.328;0.22;0.993;0.178	D;D;B;B;B;B;D;B	0.73708	0.958;0.914;0.108;0.108;0.155;0.074;0.981;0.076	T	0.06625	-1.0816	10	0.07990	T	0.79	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	234;319;471;522;545;551;551;471	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	V	551;551;319;522;545;551;471;471;516;258	ENSP00000377388:M551V;ENSP00000377389:M551V;ENSP00000434429:M319V;ENSP00000431415:M522V;ENSP00000433058:M545V;ENSP00000377390:M551V;ENSP00000265636:M471V;ENSP00000437329:M471V;ENSP00000433565:M516V;ENSP00000436209:M258V	ENSP00000265636:M471V	M	+	1	0	PPP6R3	68111989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.228000	0.95250	2.281000	0.76405	0.533000	0.62120	ATG		0.383	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		72	276	0	0	0	1	0	72	276				
TMEM182	130827	broad.mit.edu	37	2	103380788	103380788	+	Splice_Site	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:103380788C>T	ENST00000412401.2	+	3	438	c.233C>T	c.(232-234)aCc>aTc	p.T78I	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_5'UTR|TMEM182_ENST00000409173.1_Splice_Site_p.T35I	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	78						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTCTTCCTAGCCAATCAGCCA	0.468																																						ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.e3-1		transmembrane protein 182							154.0	116.0	129.0					2																	103380788		2203	4300	6503	SO:0001630	splice_region_variant	130827					integral to membrane		g.chr2:103380788C>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.233-1C>T	2.37:g.103380788C>T			Somatic				TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Splice_Site_p.T35_splice|TMEM182_ENST00000409528.1_5'UTR	p.T78_splice	NM_144632.3	NP_653233.3	WXS	Illumina GAIIx	Phase_I	Q6ZP80	TM182_HUMAN			3	438	+			78					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Splice_Site	SNP	ENST00000412401.2	37	c.232_splice	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476443	0.63737	.	.	ENSG00000170417	ENST00000454536;ENST00000409173;ENST00000412401	T;T	0.50277	0.77;0.75	5.83	3.84	0.44239	.	0.249014	0.47093	N	0.000260	T	0.44871	0.1314	M	0.65498	2.005	0.48236	D	0.999618	B;B	0.18741	0.012;0.03	B;B	0.19946	0.027;0.027	T	0.28427	-1.0044	9	.	.	.	.	11.3465	0.49563	0.0:0.8034:0.1239:0.0727	.	78;35	Q6ZP80;B8ZZ71	TM182_HUMAN;.	I	35;35;78	ENSP00000387184:T35I;ENSP00000394178:T78I	.	T	+	2	0	TMEM182	102747220	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	2.204000	0.42761	0.660000	0.30964	0.655000	0.94253	ACC		0.468	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632	Missense_Mutation	72	238	0	0	0	1	0	72	238				
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e6-1		solute carrier family 26 (anion exchanger), member 4							211.0	198.0	202.0					7																	107315388		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107315388A>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.601-1A>T	7.37:g.107315388A>T			Somatic						NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			6	824	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37		CCDS5746.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797617	0.70567	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7942	0.78398	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107102624	1.000000	0.71417	0.995000	0.50966	0.749000	0.42624	8.456000	0.90359	2.135000	0.66039	0.528000	0.53228	.		0.398	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Intron	5	332	0	0	0	1	0	5	332				
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C	rs199712484		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.S83R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.S83R(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(247-249)agC>agG		keratin associated protein 4-11																																				SO:0001583	missense	653240					keratin filament		g.chr17:39274319G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.249C>G	17.37:g.39274319G>C	ENSP00000375232:p.Ser83Arg		Somatic					p.S83R	NM_033059.3	NP_149048.2	WXS	Illumina GAIIx	Phase_I	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	287	-		Breast(137;0.000496)	83			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.249C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.769671	0.31320	.	.	ENSG00000212721	ENST00000391413	T	0.00686	5.85	4.12	0.987	0.19790	.	8.728350	0.01373	U	0.012645	T	0.01835	0.0058	M	0.85710	2.77	0.20489	N	0.999895	B	0.21381	0.055	B	0.12156	0.007	T	0.50676	-0.8800	10	0.66056	D	0.02	.	3.7776	0.08667	0.3083:0.1839:0.5078:0.0	.	83	Q9BYQ6	KR411_HUMAN	R	83	ENSP00000375232:S83R	ENSP00000375232:S83R	S	-	3	2	KRTAP4-11	36527845	0.052000	0.20516	0.390000	0.26220	0.120000	0.20174	0.102000	0.15272	0.075000	0.16796	0.511000	0.50034	AGC		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	42	0	0	0	1	0	5	42				
SMARCD2	6603	broad.mit.edu	37	17	61914807	61914807	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:61914807C>T	ENST00000448276.2	-	2	660	c.395G>A	c.(394-396)cGc>cAc	p.R132H	RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R84H|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R57H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	132					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTACCCCCGGCGCTGGGCAGG	0.587																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(394-396)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							53.0	58.0	56.0					17																	61914807		1943	4155	6098	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61914807C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.395G>A	17.37:g.61914807C>T	ENSP00000392617:p.Arg132His		Somatic				SMARCD2_ENST00000323347.10_Missense_Mutation_p.R84H|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R57H	p.R132H	NM_001098426.1	NP_001091896.1	WXS	Illumina GAIIx	Phase_I	Q92925	SMRD2_HUMAN			2	660	-			132					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.395G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	14.56	2.571208	0.45798	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.47528	0.84;0.86	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.63880	0.98;0.981;0.993	P;P;P	0.52217	0.482;0.563;0.693	T	0.51188	-0.8737	10	0.41790	T	0.15	-0.1465	16.4164	0.83743	0.0:1.0:0.0:0.0	.	84;95;132	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	H	132;74;95;84	ENSP00000392617:R132H;ENSP00000318451:R84H	ENSP00000225742:R74H	R	-	2	0	SMARCD2	59268539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.550000	0.53691	2.749000	0.94314	0.491000	0.48974	CGC		0.587	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		4	190	0	0	0	1	0	4	190				
RNF14	9604	broad.mit.edu	37	5	141363016	141363016	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141363016T>C	ENST00000394520.2	+	7	1444	c.1135T>C	c.(1135-1137)Tat>Cat	p.Y379H	RNF14_ENST00000394514.2_Missense_Mutation_p.Y253H|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000540015.1_Missense_Mutation_p.Y76H|RNF14_ENST00000356143.1_Missense_Mutation_p.Y379H|RNF14_ENST00000394519.1_Missense_Mutation_p.Y379H|RNF14_ENST00000394515.3_Missense_Mutation_p.Y203H|RNF14_ENST00000347642.3_Missense_Mutation_p.Y379H	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	379	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GGATCAAAGGTATGGTAAGAG	0.393																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1135-1137)Tat>Cat		ring finger protein 14							85.0	85.0	85.0					5																	141363016		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141363016T>C	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1135T>C	5.37:g.141363016T>C	ENSP00000378028:p.Tyr379His		Somatic				RNF14_ENST00000347642.3_Missense_Mutation_p.Y379H|RNF14_ENST00000394515.3_Missense_Mutation_p.Y203H|RNF14_ENST00000394514.2_Missense_Mutation_p.Y253H|RNF14_ENST00000356143.1_Missense_Mutation_p.Y379H|RNF14_ENST00000540015.1_Missense_Mutation_p.Y76H|RNF14_ENST00000394519.1_Missense_Mutation_p.Y379H	p.Y379H	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	WXS	Illumina GAIIx	Phase_I	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	7	1444	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	379			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.1135T>C	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468512	0.84533	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	D;D;D;D;D;D;D;D	0.91843	-2.53;-2.53;-2.53;-2.92;-2.53;-1.87;-2.1;-2.53	6.01	4.82	0.62117	.	0.051775	0.85682	D	0.000000	D	0.95918	0.8671	M	0.84683	2.71	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95258	0.8366	10	0.46703	T	0.11	.	12.4371	0.55604	0.1259:0.0:0.0:0.8741	.	76;203;379	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	H	379;379;379;76;253;76;203;379	ENSP00000348462:Y379H;ENSP00000378028:Y379H;ENSP00000324956:Y379H;ENSP00000442490:Y76H;ENSP00000378022:Y253H;ENSP00000426832:Y76H;ENSP00000378023:Y203H;ENSP00000378027:Y379H	ENSP00000324956:Y379H	Y	+	1	0	RNF14	141343200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.081000	0.71309	1.052000	0.40392	0.528000	0.53228	TAT		0.393	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		9	55	0	0	0	1	0	9	55				
ATP7B	540	broad.mit.edu	37	13	52548680	52548680	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:52548680G>A	ENST00000242839.4	-	2	832	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	ATP7B_ENST00000344297.5_Missense_Mutation_p.R226W|ATP7B_ENST00000400366.3_Missense_Mutation_p.R226W|ATP7B_ENST00000542656.1_Missense_Mutation_p.R194W|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.R226W|ATP7B_ENST00000400370.3_Missense_Mutation_p.R226W|ATP7B_ENST00000418097.2_Missense_Mutation_p.R226W	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	226					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTTTGTAACCGCTCAATATCA	0.468									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(676-678)Cgg>Tgg		ATPase, Cu++ transporting, beta polypeptide							118.0	117.0	118.0					13																	52548680		1893	4131	6024	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548680G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.676C>T	13.37:g.52548680G>A	ENSP00000242839:p.Arg226Trp		Somatic				ATP7B_ENST00000400366.3_Missense_Mutation_p.R226W|ATP7B_ENST00000542656.1_Missense_Mutation_p.R194W|ATP7B_ENST00000448424.2_Missense_Mutation_p.R226W|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.R226W|ATP7B_ENST00000400370.3_Missense_Mutation_p.R226W|ATP7B_ENST00000418097.2_Missense_Mutation_p.R226W	p.R226W	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	832	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	226					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.676C>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972906	0.53614	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.97553	-4.02;-4.07;-4.15;-3.99;-4.43;-4.04;-2.19	5.78	4.91	0.64330	.	0.404357	0.27754	N	0.017992	D	0.97961	0.9329	M	0.78456	2.415	0.09310	N	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.999	D;D;P;D;D;D;D;D	0.91635	0.997;0.995;0.834;0.994;0.999;0.982;0.988;0.976	D	0.93867	0.7159	10	0.87932	D	0	-8.0054	9.2875	0.37766	0.069:0.0:0.6635:0.2675	.	194;226;226;226;226;226;226;226	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	W	226;226;226;226;226;226;194	ENSP00000242839:R226W;ENSP00000383217:R226W;ENSP00000342559:R226W;ENSP00000416738:R226W;ENSP00000383221:R226W;ENSP00000393343:R226W;ENSP00000443128:R194W	ENSP00000242839:R226W	R	-	1	2	ATP7B	51446681	0.027000	0.19231	0.002000	0.10522	0.751000	0.42716	2.064000	0.41432	1.396000	0.46663	0.555000	0.69702	CGG		0.468	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		4	333	0	0	0	1	0	4	333				
SMG6	23293	broad.mit.edu	37	17	2195926	2195926	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:2195926T>A	ENST00000263073.6	-	6	2309		c.e6-2		SMG6_ENST00000544865.1_Splice_Site	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 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)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGTACCAACTAGAACAGAAA	0.428																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e6-2		SMG6 nonsense mediated mRNA decay factor							84.0	89.0	88.0					17																	2195926		2203	4300	6503	SO:0001630	splice_region_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2195926T>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2259-2A>T	17.37:g.2195926T>A			Somatic				SMG6_ENST00000263073.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86US8	EST1A_HUMAN			6	2676	-								B7Z874|O94837|Q86VH6|Q9UF60	Splice_Site	SNP	ENST00000263073.6	37		CCDS11016.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283628	0.80803	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3284	0.74186	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMG6	2142676	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.890000	0.87313	2.036000	0.60181	0.372000	0.22366	.		0.428	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		Intron	12	370	0	0	0	1	0	12	370				
SPECC1	92521	broad.mit.edu	37	17	20000054	20000054	+	Silent	SNP	C	C	T	rs199639674		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:20000054C>T	ENST00000261503.5	+	2	141	c.90C>T	c.(88-90)tcC>tcT	p.S30S	SPECC1_ENST00000395527.4_Silent_p.S30S|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Silent_p.S30S	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	30					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGCCTCTTCCGGCATGAAGA	0.602																																						ENST00000395529.3																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(88-90)tcC>tcT		sperm antigen with calponin homology and coiled-coil domains 1							72.0	78.0	76.0					17																	20000054		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20000054C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.90C>T	17.37:g.20000054C>T			Somatic				SPECC1_ENST00000395527.4_Silent_p.S30S|SPECC1_ENST00000261503.5_Silent_p.S30S|SPECC1_ENST00000472876.1_Intron	p.S30S	NM_152904.4	NP_690868.3	WXS	Illumina GAIIx	Phase_I	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	142	+			30					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.90C>T	CCDS32590.1																																																																																				0.602	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		48	220	0	0	0	1	0	48	220				
TUBA4A	7277	broad.mit.edu	37	2	220116343	220116343	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:220116343G>A	ENST00000248437.4	-	3	492	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Missense_Mutation_p.H92Y|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	107					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|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)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ATGGTATAGTGACCACGGGCA	0.537																																						ENST00000392088.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(274-276)Cac>Tac		tubulin, alpha 4a							129.0	110.0	117.0					2																	220116343		2203	4300	6503	SO:0001583	missense	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:220116343G>A	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.319C>T	2.37:g.220116343G>A	ENSP00000248437:p.His107Tyr		Somatic				TUBA4A_ENST00000248437.4_Missense_Mutation_p.H107Y|TUBA4A_ENST00000498660.1_5'UTR	p.H92Y	NM_001278552.1	NP_001265481.1	WXS	Illumina GAIIx	Phase_I	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	829	-		Renal(207;0.0474)	107					A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	c.274C>T	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783546	0.70222	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.71581	2.175	0.80722	D	1	D	0.53312	0.959	D	0.65874	0.939	T	0.82910	-0.0223	10	0.87932	D	0	.	18.6248	0.91333	0.0:0.0:1.0:0.0	.	107	P68366	TBA4A_HUMAN	Y	107;92;92;130;92;109	ENSP00000248437:H107Y;ENSP00000375938:H92Y;ENSP00000408194:H92Y;ENSP00000416992:H130Y;ENSP00000396061:H92Y;ENSP00000404740:H109Y	ENSP00000248437:H107Y	H	-	1	0	TUBA4A	219824587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.545000	0.98095	2.639000	0.89480	0.655000	0.94253	CAC		0.537	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000		6	321	0	0	0	1	0	6	321				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_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_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_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	9	115	0	0	0	1	0	9	115				
USP15	9958	broad.mit.edu	37	12	62749239	62749239	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:62749239A>C	ENST00000280377.5	+	8	956	c.898A>C	c.(898-900)Atg>Ctg	p.M300L	USP15_ENST00000353364.3_Missense_Mutation_p.M271L|USP15_ENST00000393654.3_Missense_Mutation_p.M275L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	300	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TACGTGTTTCATGAACTCAGC	0.373																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(898-900)Atg>Ctg		ubiquitin specific peptidase 15							101.0	94.0	97.0					12																	62749239		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62749239A>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.898A>C	12.37:g.62749239A>C	ENSP00000280377:p.Met300Leu		Somatic				USP15_ENST00000353364.3_Missense_Mutation_p.M271L|USP15_ENST00000393654.3_Missense_Mutation_p.M275L	p.M300L	NM_001252078.1	NP_001239007.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	8	956	+			300					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.898A>C	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701957	0.88924	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.34072	1.38;1.38;1.38	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.171029	0.64402	D	0.000007	T	0.54431	0.1858	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.998	T	0.51044	-0.8755	9	.	.	.	-11.536	15.7844	0.78291	1.0:0.0:0.0:0.0	.	300;271	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	L	271;300;275	ENSP00000258123:M271L;ENSP00000280377:M300L;ENSP00000377264:M275L	.	M	+	1	0	USP15	61035506	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.434000	0.90294	2.141000	0.66446	0.455000	0.32223	ATG		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		38	113	0	0	0	1	0	38	113				
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																						ENST00000375050.4																			3	Substitution - Missense(3)	p.Y262F(3)	lung(3)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(784-786)tAt>tTt		pre-B-cell leukemia homeobox 2																																				SO:0001583	missense	5089						transcription factor binding	g.chr6:32155509T>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe		Somatic					p.Y262F	NM_002586.4	NP_002577.2	WXS	Illumina GAIIx	Phase_I	P40425	PBX2_HUMAN			5	1055	-			262					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.785A>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	24	0	0	0	1	0	3	24				
OR6C3	254786	broad.mit.edu	37	12	55726091	55726091	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:55726091A>T	ENST00000379667.1	+	1	607	c.607A>T	c.(607-609)Act>Tct	p.T203S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	203					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						TGCTTTGGTTACTTTGCTGTT	0.373																																						ENST00000379667.1																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(607-609)Act>Tct		olfactory receptor, family 6, subfamily C, member 3							237.0	231.0	233.0					12																	55726091		2203	4300	6503	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726091A>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.607A>T	12.37:g.55726091A>T	ENSP00000368989:p.Thr203Ser		Somatic					p.T203S	NM_054104.1	NP_473445.1	WXS	Illumina GAIIx	Phase_I	Q9NZP0	OR6C3_HUMAN			1	607	+			203						Missense_Mutation	SNP	ENST00000379667.1	37	c.607A>T	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	A	4.837	0.155610	0.09236	.	.	ENSG00000205329	ENST00000379667	T	0.00069	8.77	5.13	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	0.919459	0.09077	N	0.851930	T	0.00178	0.0005	L	0.56280	1.765	0.09310	N	1	B	0.15141	0.012	B	0.28916	0.096	T	0.16276	-1.0408	10	0.87932	D	0	.	6.9582	0.24583	0.342:0.0:0.5139:0.1442	.	203	Q9NZP0	OR6C3_HUMAN	S	203	ENSP00000368989:T203S	ENSP00000368989:T203S	T	+	1	0	OR6C3	54012358	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.551000	0.06027	-0.343000	0.08351	-0.341000	0.08007	ACT		0.373	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			5	391	0	0	0	1	0	5	391				
OR4A5	81318	broad.mit.edu	37	11	51411955	51411955	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:51411955C>G	ENST00000319760.6	-	1	493	c.441G>C	c.(439-441)atG>atC	p.M147I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AACCTCCAATCATGGCCACCA	0.458																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(439-441)atG>atC		olfactory receptor, family 4, subfamily A, member 5							93.0	85.0	88.0					11																	51411955		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411955C>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.441G>C	11.37:g.51411955C>G	ENSP00000367664:p.Met147Ile		Somatic					p.M147I	NM_001005272.3	NP_001005272.3	WXS	Illumina GAIIx	Phase_I	Q8NH83	OR4A5_HUMAN			1	493	-		all_lung(304;0.236)	147					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.441G>C	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	3.695	-0.062693	0.07273	.	.	ENSG00000221840	ENST00000319760	T	0.35973	1.28	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.493390	0.17324	N	0.178400	T	0.15652	0.0377	N	0.03608	-0.345	0.21579	N	0.999631	B	0.11235	0.004	B	0.23018	0.043	T	0.16305	-1.0407	10	0.87932	D	0	.	5.73	0.18034	0.3184:0.6816:0.0:0.0	.	147	Q8NH83	OR4A5_HUMAN	I	147	ENSP00000367664:M147I	ENSP00000367664:M147I	M	-	3	0	OR4A5	51268531	0.000000	0.05858	0.029000	0.17559	0.009000	0.06853	0.080000	0.14802	1.394000	0.46624	0.162000	0.16502	ATG		0.458	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		3	215	0	0	0	1	0	3	215				
PDE1B	5153	broad.mit.edu	37	12	54964117	54964117	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:54964117G>A	ENST00000243052.3	+	6	1006	c.570G>A	c.(568-570)cgG>cgA	p.R190R	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.R170R|PDE1B_ENST00000538346.1_Silent_p.R149R	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	190					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGCTGACTCGGCATAACCTCA	0.512																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(568-570)cgG>cgA		phosphodiesterase 1B, calmodulin-dependent							181.0	150.0	161.0					12																	54964117		2203	4300	6503	SO:0001819	synonymous_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54964117G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.570G>A	12.37:g.54964117G>A			Somatic				PDE1B_ENST00000550620.1_Silent_p.R170R|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.R149R	p.R190R	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			6	1006	+			190					Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	c.570G>A	CCDS8882.1																																																																																				0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			5	753	0	0	0	1	0	5	753				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			645752							g.chr15:78208916C>G																													15.37:g.78208916C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	137	0	0	0	1	0	3	137				
ATP13A4	84239	broad.mit.edu	37	3	193156852	193156852	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:193156852T>A	ENST00000342695.4	-	22	2844	c.2522A>T	c.(2521-2523)tAc>tTc	p.Y841F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y822F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	841						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCTACAAAGTAACTAAGAGG	0.368																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2521-2523)tAc>tTc		ATPase type 13A4							211.0	179.0	190.0					3																	193156852		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193156852T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2522A>T	3.37:g.193156852T>A	ENSP00000339182:p.Tyr841Phe		Somatic				ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y822F	p.Y841F	NM_032279.2	NP_115655.2	WXS	Illumina GAIIx	Phase_I	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	22	2844	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		841					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2522A>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	28.7	4.947055	0.92593	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.58358	0.34;0.34	5.96	5.96	0.96718	HAD-like domain (2);	0.000000	0.64402	D	0.000002	T	0.76004	0.3927	M	0.86573	2.825	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.80634	-0.1295	10	0.87932	D	0	-28.2015	15.2725	0.73717	0.0:0.0:0.0:1.0	.	841	Q4VNC1	AT134_HUMAN	F	822;841	ENSP00000376238:Y822F;ENSP00000339182:Y841F	ENSP00000339182:Y841F	Y	-	2	0	ATP13A4	194639546	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.645000	0.83430	2.285000	0.76669	0.533000	0.62120	TAC		0.368	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		5	433	0	0	0	1	0	5	433				
SOCS5	9655	broad.mit.edu	37	2	46985656	46985656	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:46985656A>T	ENST00000306503.5	+	2	160		c.e2-1		SOCS5_ENST00000394861.2_Splice_Site	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5						cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTTTGTCTTTAGATTTTATAA	0.383																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.e2-1		suppressor of cytokine signaling 5							26.0	29.0	28.0					2																	46985656		2194	4296	6490	SO:0001630	splice_region_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46985656A>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.-12-1A>T	2.37:g.46985656A>T			Somatic				SOCS5_ENST00000394861.2_Splice_Site		NM_014011.4	NP_054730.1	WXS	Illumina GAIIx	Phase_I	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	160	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						Q53SD4|Q8IYZ4	Splice_Site	SNP	ENST00000306503.5	37		CCDS1830.1																																																																																				0.383	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		Intron	3	37	0	0	0	1	0	3	37				
NR3C2	4306	broad.mit.edu	37	4	149181205	149181205	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:149181205C>A	ENST00000358102.3	-	3	2184	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	NR3C2_ENST00000344721.4_Missense_Mutation_p.D608Y|NR3C2_ENST00000355292.3_Missense_Mutation_p.D608Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.D608Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.D608Y	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	608					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GAAGCCTCATCCCCACACACC	0.423																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1822-1824)Gat>Tat		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						138.0	129.0	132.0					4																	149181205		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181205C>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1822G>T	4.37:g.149181205C>A	ENSP00000350815:p.Asp608Tyr		Somatic				NR3C2_ENST00000342437.4_Missense_Mutation_p.D608Y|NR3C2_ENST00000344721.4_Missense_Mutation_p.D608Y|NR3C2_ENST00000358102.3_Missense_Mutation_p.D608Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.D608Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.D608Y	p.D608Y			WXS	Illumina GAIIx	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2184	-	all_hematologic(180;0.151)		608					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1822G>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867820	0.91587	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99357	1.0916	9	.	.	.	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	608;608	B0ZBF5;B0ZBF6	.;.	Y	608	ENSP00000341390:D608Y;ENSP00000347441:D608Y;ENSP00000350815:D608Y;ENSP00000423510:D608Y;ENSP00000343907:D608Y;ENSP00000421481:D608Y	.	D	-	1	0	NR3C2	149400655	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.723000	0.93209	0.591000	0.81541	GAT		0.423	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			11	214	1	0	0.000308642	1	0.000321458	11	214				
RAB24	53917	broad.mit.edu	37	5	176728957	176728957	+	Nonsense_Mutation	SNP	G	G	T	rs528710798		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:176728957G>T	ENST00000303251.6	-	7	935	c.516C>A	c.(514-516)taC>taA	p.Y172*	RAB24_ENST00000393611.2_Nonsense_Mutation_p.Y172*|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Nonsense_Mutation_p.Y143*	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	172					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACACTGACGTAATCCTCTG	0.552																																						ENST00000303270.6																			0											c.(427-429)taC>taA		RAB24, member RAS oncogene family							111.0	112.0	111.0					5																	176728957		2203	4300	6503	SO:0001587	stop_gained	53917				autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding	g.chr5:176728957G>T	AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.516C>A	5.37:g.176728957G>T	ENSP00000304376:p.Tyr172*		Somatic				RAB24_ENST00000303251.6_Nonsense_Mutation_p.Y172*|RAB24_ENST00000393611.2_Nonsense_Mutation_p.Y172*	p.Y143*			WXS	Illumina GAIIx	Phase_I	Q969Q5	RAB24_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1031	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	172					Q7Z4Z7	Nonsense_Mutation	SNP	ENST00000303251.6	37	c.429C>A	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	37	6.128472	0.97310	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	.	.	.	4.95	3.93	0.45458	.	0.408322	0.25225	U	0.032202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-11.938	7.3508	0.26689	0.3687:0.0:0.6313:0.0	.	.	.	.	X	172;172;143	.	ENSP00000304376:Y172X	Y	-	3	2	RAB24	176661563	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.188000	0.17018	1.068000	0.40764	0.561000	0.74099	TAC		0.552	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781		4	112	1	0	0.00116845	1	0.00121277	4	112				
WARS2	10352	broad.mit.edu	37	1	119576009	119576009	+	Intron	SNP	T	T	A	rs572880016	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:119576009T>A	ENST00000235521.4	-	6	661				WARS2_ENST00000537870.1_Intron|WARS2_ENST00000369426.5_Missense_Mutation_p.M213L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AACACACACATACCCAAAACA	0.393																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(637-639)Atg>Ttg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						115.0	117.0	116.0					1																	119576009		2203	4300	6503	SO:0001627	intron_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119576009T>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.635-27A>T	1.37:g.119576009T>A			Somatic				WARS2_ENST00000235521.4_Intron|WARS2_ENST00000537870.1_Intron	p.M213L			WXS	Illumina GAIIx	Phase_I	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	640	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	0					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.637A>T	CCDS900.1	.	.	.	.	.	.	.	.	.	.	T	7.236	0.600310	0.13939	.	.	ENSG00000116874	ENST00000369426	T	0.40225	1.04	3.78	-7.56	0.01322	.	.	.	.	.	T	0.10035	0.0246	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.20874	-1.0262	9	0.56958	D	0.05	.	16.7624	0.85515	0.0:0.1518:0.0:0.8482	.	213	B1ALR1	.	L	213	ENSP00000358434:M213L	ENSP00000358434:M213L	M	-	1	0	WARS2	119377532	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.196000	0.17176	-2.502000	0.00509	-0.969000	0.02612	ATG		0.393	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		5	384	0	0	0	1	0	5	384				
ZNF175	7728	broad.mit.edu	37	19	52084648	52084648	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52084648C>T	ENST00000262259.2	+	3	435	c.77C>T	c.(76-78)tCa>tTa	p.S26L	ZNF175_ENST00000436511.2_Missense_Mutation_p.S26L|ZNF175_ENST00000596504.1_Missense_Mutation_p.S26L	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	26					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)		TTACAGGCATCAGTGTCATTT	0.522																																						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.(76-78)tCa>tTa		zinc finger protein 175							128.0	100.0	110.0					19																	52084648		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52084648C>T	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.77C>T	19.37:g.52084648C>T	ENSP00000262259:p.Ser26Leu		Somatic				ZNF175_ENST00000596504.1_Missense_Mutation_p.S26L|ZNF175_ENST00000436511.2_Missense_Mutation_p.S26L	p.S26L	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)	3	435	+		all_neural(266;0.0299)	26					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.77C>T	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	8.779	0.927691	0.18056	.	.	ENSG00000105497	ENST00000262259;ENST00000436511	T;T	0.00737	5.76;5.76	2.47	0.325	0.15903	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.03917	-0.325	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44128	-0.9348	9	0.34782	T	0.22	.	6.3552	0.21397	0.0:0.7272:0.0:0.2728	.	26	Q9Y473	ZN175_HUMAN	L	26	ENSP00000262259:S26L;ENSP00000440578:S26L	ENSP00000262259:S26L	S	+	2	0	ZNF175	56776460	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.069000	0.03444	0.152000	0.19188	0.655000	0.94253	TCA		0.522	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		79	142	0	0	0	1	0	79	142				
SNX33	257364	broad.mit.edu	37	15	75949488	75949488	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:75949488C>A	ENST00000308527.5	+	2	2854	c.1657C>A	c.(1657-1659)Cag>Aag	p.Q553K		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	553	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTGCGCCAGCAGATCCTCTT	0.627																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1657-1659)Cag>Aag		sorting nexin 33							124.0	111.0	115.0					15																	75949488		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949488C>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1657C>A	15.37:g.75949488C>A	ENSP00000311427:p.Gln553Lys		Somatic					p.Q553K	NM_153271.1	NP_695003.1	WXS	Illumina GAIIx	Phase_I	Q8WV41	SNX33_HUMAN			2	2854	+			553			BAR.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.1657C>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020795	0.54576	.	.	ENSG00000173548	ENST00000308527	T	0.56611	0.45	5.41	5.41	0.78517	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.81341	2.54	0.80722	D	1	P;P	0.45715	0.865;0.865	P;P	0.45428	0.48;0.48	T	0.70757	-0.4785	10	0.72032	D	0.01	-0.5401	18.1837	0.89786	0.0:1.0:0.0:0.0	.	553;553	B1NM17;Q8WV41	.;SNX33_HUMAN	K	553	ENSP00000311427:Q553K	ENSP00000311427:Q553K	Q	+	1	0	SNX33	73736543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.526000	0.85167	0.591000	0.81541	CAG		0.627	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		8	181	1	0	0.00448238	1	0.00460477	8	181				
KLK6	5653	broad.mit.edu	37	19	51466690	51466690	+	Nonsense_Mutation	SNP	G	G	A	rs577792048		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:51466690G>A	ENST00000376851.3	-	4	752	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Nonsense_Mutation_p.Q105*|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Nonsense_Mutation_p.Q105*|KLK6_ENST00000456750.2_5'Flank	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGATGTCCTGGTCATGGCTG	0.597																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(313-315)Cag>Tag		kallikrein-related peptidase 6							84.0	63.0	70.0					19																	51466690		2203	4300	6503	SO:0001587	stop_gained	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466690G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.313C>T	19.37:g.51466690G>A	ENSP00000366047:p.Gln105*		Somatic				KLK6_ENST00000594641.1_Nonsense_Mutation_p.Q105*|KLK6_ENST00000310157.2_Nonsense_Mutation_p.Q105*|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_5'UTR	p.Q105*	NM_001012964.1	NP_001012982.1	WXS	Illumina GAIIx	Phase_I	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	752	-		all_neural(266;0.026)	105			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Nonsense_Mutation	SNP	ENST00000376851.3	37	c.313C>T	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	35	5.434001	0.96150	.	.	ENSG00000167755	ENST00000310157;ENST00000376851	.	.	.	4.69	0.976	0.19727	.	0.636305	0.13118	N	0.412478	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.7023	0.28630	0.0:0.1441:0.3918:0.4641	.	.	.	.	X	105	.	ENSP00000309148:Q105X	Q	-	1	0	KLK6	56158502	0.996000	0.38824	0.999000	0.59377	0.571000	0.35966	0.436000	0.21526	0.516000	0.28340	-0.492000	0.04666	CAG		0.597	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		8	25	0	0	0	1	0	8	25				
ATP7B	540	broad.mit.edu	37	13	52518307	52518307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:52518307C>T	ENST00000242839.4	-	14	3337	c.3181G>A	c.(3181-3183)Ggg>Agg	p.G1061R	ATP7B_ENST00000344297.5_Missense_Mutation_p.G854R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G950R|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.G983R|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.G631R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G996R	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1061			G -> E (in WD). {ECO:0000269|PubMed:10544227, ECO:0000269|PubMed:11216666, ECO:0000269|PubMed:15952988}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TCCGCAGTCCCCACCACAGCC	0.637									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(3181-3183)Ggg>Agg		ATPase, Cu++ transporting, beta polypeptide							39.0	43.0	42.0					13																	52518307		2051	4200	6251	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52518307C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3181G>A	13.37:g.52518307C>T	ENSP00000242839:p.Gly1061Arg		Somatic				ATP7B_ENST00000400366.3_Missense_Mutation_p.G950R|ATP7B_ENST00000448424.2_Missense_Mutation_p.G983R|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.G854R|ATP7B_ENST00000400370.3_Missense_Mutation_p.G631R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G996R|ATP7B_ENST00000417240.2_Intron	p.G1061R	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	14	3337	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1061		G -> E (in WD).			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3181G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868965	0.72065	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	5.43	4.59	0.56863	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.044904	0.85682	D	0.000000	D	0.97077	0.9045	M	0.64080	1.96	0.80722	D	1	D;D;D;D;B;D;D	0.89917	0.991;1.0;1.0;1.0;0.381;1.0;1.0	D;D;D;D;B;D;D	0.97110	0.959;0.998;1.0;1.0;0.127;1.0;0.999	D	0.97646	1.0151	10	0.87932	D	0	-16.5576	15.7562	0.78030	0.1376:0.8624:0.0:0.0	.	983;1013;996;631;950;854;1061	E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	R	1061;950;854;983;631;996	ENSP00000242839:G1061R;ENSP00000383217:G950R;ENSP00000342559:G854R;ENSP00000416738:G983R;ENSP00000383221:G631R;ENSP00000393343:G996R	ENSP00000242839:G1061R	G	-	1	0	ATP7B	51416308	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	1.326000	0.45319	-0.219000	0.12488	GGG		0.637	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		20	68	0	0	0	1	0	20	68				
SFI1	9814	broad.mit.edu	37	22	31904239	31904239	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:31904239A>T	ENST00000400288.2	+	2	75		c.e2-1		SFI1_ENST00000443326.1_Splice_Site|SFI1_ENST00000540643.1_Splice_Site|SFI1_ENST00000432498.1_Splice_Site|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTTTCTTGTAGTTAGAAGGG	0.378																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.e2-1		Sfi1 homolog, spindle assembly associated (yeast)							50.0	46.0	47.0					22																	31904239		1813	4083	5896	SO:0001630	splice_region_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31904239A>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.-30-1A>T	22.37:g.31904239A>T			Somatic				SFI1_ENST00000443326.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000540643.1_Splice_Site		NM_014775.3	NP_055590.2	WXS	Illumina GAIIx	Phase_I	A8K8P3	SFI1_HUMAN			2	363	+								A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Splice_Site	SNP	ENST00000400288.2	37		CCDS43004.1																																																																																				0.378	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	Intron	4	74	0	0	0	1	0	4	74				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_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_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|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	9	327	0	0	0	1	0	9	327				
LPA	4018	broad.mit.edu	37	6	161026093	161026093	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:161026093G>T	ENST00000316300.5	-	18	2974	c.2930C>A	c.(2929-2931)gCa>gAa	p.A977E	LPA_ENST00000447678.1_Missense_Mutation_p.A977E			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3485	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.A977E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGTAGTATGCTGGGGTCCG	0.438																																						ENST00000447678.1																			1	Substitution - Missense(1)	p.A977E(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2929-2931)gCa>gAa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						344.0	358.0	353.0					6																	161026093		2190	4295	6485	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161026093G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2930C>A	6.37:g.161026093G>T	ENSP00000321334:p.Ala977Glu		Somatic				LPA_ENST00000316300.5_Missense_Mutation_p.A977E	p.A977E	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	19	3050	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3485			Kringle 9.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2930C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.679747	0.00006	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63580	-0.05;-0.05	2.16	-1.35	0.09114	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.16041	0.0386	N	0.00738	-1.235	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.38693	-0.9649	9	0.02654	T	1	.	6.5254	0.22299	0.0:0.0:0.51:0.49	.	3485	P08519	APOA_HUMAN	E	977	ENSP00000321334:A977E;ENSP00000395608:A977E	ENSP00000321334:A977E	A	-	2	0	LPA	160946083	0.000000	0.05858	0.036000	0.18154	0.014000	0.08584	-1.282000	0.02799	-0.354000	0.08212	-1.296000	0.01341	GCA		0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		17	1388	1	0	0.00136819	1	0.00141521	17	1388				
ANO6	196527	broad.mit.edu	37	12	45781942	45781942	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:45781942A>T	ENST00000320560.8	+	11	1367		c.e11-1		ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000426898.2_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTCTCTGTTAGTTACCTTGT	0.398																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.e11-1		anoctamin 6							169.0	155.0	160.0					12																	45781942		2203	4300	6503	SO:0001630	splice_region_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45781942A>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1166-1A>T	12.37:g.45781942A>T			Somatic				ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000426898.2_Splice_Site		NM_001025356.2	NP_001020527.2	WXS	Illumina GAIIx	Phase_I	Q4KMQ2	ANO6_HUMAN			11	1367	+								A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Splice_Site	SNP	ENST00000320560.8	37		CCDS31782.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859365	0.71834	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5456	0.68027	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO6	44068209	1.000000	0.71417	0.883000	0.34634	0.833000	0.47200	8.910000	0.92685	1.975000	0.57531	0.477000	0.44152	.		0.398	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	Intron	7	328	0	0	0	1	0	7	328				
VPS13B	157680	broad.mit.edu	37	8	100182265	100182265	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:100182265A>T	ENST00000358544.2	+	16	2319		c.e16-1		VPS13B_ENST00000355155.1_Splice_Site|VPS13B_ENST00000521932.1_Splice_Site|VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000395996.1_Splice_Site	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTTGTTTTAGATATTTGGT	0.403																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.e16-1		vacuolar protein sorting 13 homolog B (yeast)							171.0	157.0	162.0					8																	100182265		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100182265A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2209-1A>T	8.37:g.100182265A>T			Somatic				VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000355155.1_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000521932.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		16	2319	+	Breast(36;3.73e-07)							C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	SNP	ENST00000358544.2	37		CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866986	0.72065	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8421	0.78857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13B	100251441	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.478000	0.81082	2.197000	0.70478	0.455000	0.32223	.		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Intron	6	254	0	0	0	1	0	6	254				
YARS	8565	broad.mit.edu	37	1	33245096	33245096	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:33245096G>C	ENST00000373477.4	-	12	2271	c.1363C>G	c.(1363-1365)Ctg>Gtg	p.L455V	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	455	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GGAGGGTCCAGAGGTTCAACC	0.537																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1363-1365)Ctg>Gtg		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						73.0	72.0	72.0					1																	33245096		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245096G>C	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1363C>G	1.37:g.33245096G>C	ENSP00000362576:p.Leu455Val		Somatic				YARS_ENST00000469100.1_5'UTR	p.L455V	NM_003680.3	NP_003671.1	WXS	Illumina GAIIx	Phase_I	P54577	SYYC_HUMAN			12	2271	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	455			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1363C>G	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012307	0.75046	.	.	ENSG00000134684	ENST00000373477	T	0.73047	-0.71	5.65	4.73	0.59995	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.64997	1.995	0.80722	D	1	D	0.54964	0.969	P	0.58266	0.836	T	0.79070	-0.1954	10	0.49607	T	0.09	-10.0276	15.6492	0.77078	0.0691:0.0:0.9309:0.0	.	455	P54577	SYYC_HUMAN	V	455	ENSP00000362576:L455V	ENSP00000362576:L455V	L	-	1	2	YARS	33017683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.418000	0.66429	2.835000	0.97688	0.650000	0.86243	CTG		0.537	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		13	88	0	0	0	1	0	13	88				
LRRC42	115353	broad.mit.edu	37	1	54428053	54428053	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:54428053A>G	ENST00000371370.3	+	7	1419	c.898A>G	c.(898-900)Aac>Gac	p.N300D	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.N300D	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	300										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGATCATAGTAACTGCAAGAC	0.463																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(898-900)Aac>Gac		leucine rich repeat containing 42							98.0	97.0	97.0					1																	54428053		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54428053A>G	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.898A>G	1.37:g.54428053A>G	ENSP00000360421:p.Asn300Asp		Somatic				LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.N300D	p.N300D	NM_001256409.1	NP_001243338.1	WXS	Illumina GAIIx	Phase_I	Q9Y546	LRC42_HUMAN			7	1419	+			300					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.898A>G	CCDS585.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987466	0.35036	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	6.08	6.08	0.98989	.	0.223526	0.51477	D	0.000081	T	0.40448	0.1117	L	0.29908	0.895	0.35863	D	0.827619	P	0.36282	0.546	B	0.30401	0.115	T	0.49588	-0.8924	9	0.27785	T	0.31	-24.5232	16.6438	0.85155	1.0:0.0:0.0:0.0	.	300	Q9Y546	LRC42_HUMAN	D	300	.	ENSP00000318185:N300D	N	+	1	0	LRRC42	54200641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.494000	0.53273	2.333000	0.79357	0.533000	0.62120	AAC		0.463	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		22	39	0	0	0	1	0	22	39				
PTOV1	53635	broad.mit.edu	37	19	50363543	50363543	+	3'UTR	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50363543C>T	ENST00000601675.1	+	0	1362				AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_3'UTR|PTOV1_ENST00000391842.1_3'UTR|PTOV1_ENST00000221557.9_Silent_p.Y364Y|PTOV1_ENST00000601638.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000600603.1_Silent_p.Y364Y|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTAGTGGTTACCCCGGGCTGG	0.672																																						ENST00000221557.9																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1090-1092)taC>taT		prostate tumor overexpressed 1							22.0	24.0	24.0					19																	50363543		2203	4300	6503	SO:0001624	3_prime_UTR_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50363543C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.*7C>T	19.37:g.50363543C>T			Somatic				PTOV1_ENST00000391842.1_3'UTR|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_3'UTR|PTOV1_ENST00000601675.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.Y364Y|PTOV1_ENST00000599732.1_3'UTR	p.Y364Y			WXS	Illumina GAIIx	Phase_I	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	12	1092	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	22			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.1092C>T	CCDS12782.1																																																																																				0.672	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		4	11	0	0	0	1	0	4	11				
MEI1	150365	broad.mit.edu	37	22	42172238	42172238	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:42172238C>A	ENST00000401548.3	+	21	2717	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.L261M|MEI1_ENST00000540880.1_Missense_Mutation_p.L211M	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						CCTGCAGCGTCTGCTAGTGGA	0.557																																						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.(2677-2679)Ctg>Atg		meiosis inhibitor 1							71.0	70.0	70.0					22																	42172238		2068	4216	6284	SO:0001583	missense	150365						binding	g.chr22:42172238C>A	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.2677C>A	22.37:g.42172238C>A	ENSP00000384115:p.Leu893Met		Somatic				MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.L211M|MEI1_ENST00000400107.1_Missense_Mutation_p.L261M	p.L893M	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			21	2717	+			893						Missense_Mutation	SNP	ENST00000401548.3	37	c.2677C>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042098	0.55003	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.74842	-0.82;-0.88;0.38	5.8	3.65	0.41850	.	0.242826	0.34879	N	0.003601	T	0.81197	0.4772	L	0.59436	1.845	0.41510	D	0.988331	D;B;P;P	0.89917	1.0;0.356;0.587;0.587	D;B;B;B	0.81914	0.995;0.197;0.266;0.177	T	0.80141	-0.1506	10	0.56958	D	0.05	.	8.9026	0.35503	0.3024:0.5514:0.1462:0.0	.	261;136;261;893	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	M	893;261;211	ENSP00000384115:L893M;ENSP00000382978:L261M;ENSP00000437436:L211M	ENSP00000382978:L261M	L	+	1	2	MEI1	40502184	1.000000	0.71417	0.819000	0.32651	0.809000	0.45718	2.018000	0.40991	0.738000	0.32606	0.650000	0.86243	CTG		0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		56	118	1	0	9.74007e-18	1	1.07391e-17	56	118				
HOPX	84525	broad.mit.edu	37	4	57522158	57522158	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:57522158C>A	ENST00000337881.7	-	2	665	c.9G>T	c.(7-9)gcG>gcT	p.A3A	HOPX_ENST00000503639.3_Silent_p.A3A|HOPX_ENST00000553379.2_Silent_p.A3A|HOPX_ENST00000555760.2_Silent_p.A3A|HOPX_ENST00000508121.1_Silent_p.A21A|HOPX_ENST00000317745.7_Silent_p.A3A|HOPX_ENST00000420433.1_Silent_p.A21A|HOPX_ENST00000556376.2_Silent_p.A3A|HOPX_ENST00000556614.2_Silent_p.A3A|HOPX_ENST00000381255.3_Silent_p.A3A|HOPX_ENST00000381260.3_Silent_p.A3A|HOPX_ENST00000554144.1_Silent_p.A21A	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	3					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					TCGCGGTCTCCGCCGACATGG	0.692																																						ENST00000554144.1																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(61-63)gcG>gcT		HOP homeobox							48.0	44.0	45.0					4																	57522158		2202	4300	6502	SO:0001819	synonymous_variant	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57522158C>A		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.9G>T	4.37:g.57522158C>A			Somatic				HOPX_ENST00000555760.2_Silent_p.A3A|HOPX_ENST00000556614.2_Silent_p.A3A|HOPX_ENST00000553379.2_Silent_p.A3A|HOPX_ENST00000381260.3_Silent_p.A3A|HOPX_ENST00000317745.7_Silent_p.A3A|HOPX_ENST00000420433.1_Silent_p.A21A|HOPX_ENST00000337881.7_Silent_p.A3A|HOPX_ENST00000503639.3_Silent_p.A3A|HOPX_ENST00000556376.2_Silent_p.A3A|HOPX_ENST00000381255.3_Silent_p.A3A|HOPX_ENST00000508121.1_Silent_p.A21A	p.A21A	NM_001145460.1	NP_001138932.1	WXS	Illumina GAIIx	Phase_I	Q9BPY8	HOP_HUMAN			3	597	-	Glioma(25;0.08)|all_neural(26;0.101)		3					A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	ENST00000337881.7	37	c.63G>T	CCDS3507.1																																																																																				0.692	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			6	13	1	0	2.17888e-05	1	2.29315e-05	6	13				
TTLL5	23093	broad.mit.edu	37	14	76186076	76186076	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:76186076A>T	ENST00000298832.9	+	11	1047		c.e11-1		TTLL5_ENST00000557636.1_Splice_Site|TTLL5_ENST00000555422.1_Intron	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATTTGTTTTAGTTGTGACGA	0.353																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e11-1		tubulin tyrosine ligase-like family, member 5							128.0	122.0	124.0					14																	76186076		2203	4300	6503	SO:0001630	splice_region_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76186076A>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.843-1A>T	14.37:g.76186076A>T			Somatic				TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Splice_Site		NM_015072.4	NP_055887.3	WXS	Illumina GAIIx	Phase_I	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	11	1047	+								B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Splice_Site	SNP	ENST00000298832.9	37		CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073386	0.76415	.	.	ENSG00000119685	ENST00000557636;ENST00000298832	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9097	0.79463	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTLL5	75255829	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	9.104000	0.94239	2.291000	0.77112	0.533000	0.62120	.		0.353	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072	Intron	6	205	0	0	0	1	0	6	205				
ZNF57	126295	broad.mit.edu	37	19	2917807	2917807	+	Missense_Mutation	SNP	A	A	C	rs541994633		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:2917807A>C	ENST00000306908.5	+	4	1336	c.1188A>C	c.(1186-1188)caA>caC	p.Q396H	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.Q364H	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACAATGTGGGAAGG	0.428													A|||	1	0.000199681	0.0	0.0	5008	,	,		22212	0.0		0.0	False		,,,				2504	0.001				NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1186-1188)caA>caC		zinc finger protein 57							92.0	84.0	87.0					19																	2917807		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917807A>C	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1188A>C	19.37:g.2917807A>C	ENSP00000303696:p.Gln396His		Somatic				ZNF57_ENST00000523428.1_Missense_Mutation_p.Q364H|AC006277.2_ENST00000520090.2_RNA	p.Q396H	NM_173480.2	NP_775751.1	WXS	Illumina GAIIx	Phase_I	Q68EA5	ZNF57_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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1336	+			396					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1188A>C	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	A	0.157	-1.085634	0.01873	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.07444	3.19;3.19	2.25	-4.5	0.03493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40440	-0.9563	9	0.49607	T	0.09	.	7.6115	0.28133	0.5606:0.2249:0.2145:0.0	.	396	Q68EA5	ZNF57_HUMAN	H	396;398;364	ENSP00000303696:Q396H;ENSP00000430223:Q364H	ENSP00000303696:Q396H	Q	+	3	2	ZNF57	2868807	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.427000	0.00036	-3.748000	0.00112	-3.587000	0.00029	CAA		0.428	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		3	214	0	0	0	1	0	3	214				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D	p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	510	0	0	0	1	0	5	510				
MYO18A	399687	broad.mit.edu	37	17	27493711	27493711	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:27493711G>A	ENST00000527372.1	-	2	428	c.248C>T	c.(247-249)tCc>tTc	p.S83F	MYO18A_ENST00000531253.1_Missense_Mutation_p.S83F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S83F|MYO18A_ENST00000533112.1_Missense_Mutation_p.S83F	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	83	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTACTATCGGAGTCAATGTC	0.607																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(247-249)tCc>tTc		myosin XVIIIA							55.0	60.0	58.0					17																	27493711		2187	4290	6477	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493711G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.248C>T	17.37:g.27493711G>A	ENSP00000437073:p.Ser83Phe		Somatic				MYO18A_ENST00000531253.1_Missense_Mutation_p.S83F|MYO18A_ENST00000533112.1_Missense_Mutation_p.S83F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S83F	p.S83F	NM_078471.3	NP_510880.2	WXS	Illumina GAIIx	Phase_I	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	428	-			83					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.248C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153431	0.78114	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89746	-2.45;-2.56;-2.45;-2.46	4.94	4.94	0.65067	.	0.201060	0.45126	D	0.000389	D	0.89646	0.6775	L	0.27053	0.805	0.53688	D	0.999976	P;D;P	0.64830	0.815;0.994;0.868	B;P;B	0.58331	0.246;0.837;0.325	D	0.91151	0.4953	10	0.72032	D	0.01	.	18.3651	0.90388	0.0:0.0:1.0:0.0	.	83;83;83	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	F	83	ENSP00000346291:S83F;ENSP00000435932:S83F;ENSP00000434228:S83F;ENSP00000437073:S83F	ENSP00000346291:S83F	S	-	2	0	MYO18A	24517837	1.000000	0.71417	0.969000	0.41365	0.919000	0.55068	7.223000	0.78033	2.578000	0.87016	0.467000	0.42956	TCC		0.607	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		9	85	0	0	0	1	0	9	85				
ATP1A4	480	broad.mit.edu	37	1	160136441	160136441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160136441C>T	ENST00000368081.4	+	8	1642	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	391					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCCTCACCCAGAACCGCAT	0.582																																						ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1171-1173)Cag>Tag		ATPase, Na+/K+ transporting, alpha 4 polypeptide							141.0	110.0	121.0					1																	160136441		2203	4300	6503	SO:0001587	stop_gained	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160136441C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1171C>T	1.37:g.160136441C>T	ENSP00000357060:p.Gln391*		Somatic					p.Q391*	NM_144699.3	NP_653300.2	WXS	Illumina GAIIx	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1642	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		391					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Nonsense_Mutation	SNP	ENST00000368081.4	37	c.1171C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	44	10.751376	0.99461	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7749	0.69724	0.0:1.0:0.0:0.0	.	.	.	.	X	391	.	ENSP00000357060:Q391X	Q	+	1	0	ATP1A4	158403065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.580000	0.82523	2.427000	0.82271	0.650000	0.86243	CAG		0.582	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		4	425	0	0	0	1	0	4	425				
DHTKD1	55526	broad.mit.edu	37	10	12139948	12139948	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:12139948C>T	ENST00000263035.4	+	8	1686	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	542					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGTAGAGGTGCCAAGAGAGCT	0.567																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1624-1626)Cca>Tca		dehydrogenase E1 and transketolase domain containing 1							118.0	109.0	112.0					10																	12139948		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12139948C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1624C>T	10.37:g.12139948C>T	ENSP00000263035:p.Pro542Ser		Somatic				DHTKD1_ENST00000465617.1_3'UTR	p.P542S	NM_018706.5	NP_061176.3	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		8	1686	+		Renal(717;0.228)	542					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1624C>T	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.33|16.33	3.091822|3.091822	0.55968|0.55968	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000448829|ENST00000263035	.|T	.|0.11495	.|2.77	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.051020	.|0.85682	.|D	.|0.000000	T|T	0.42154|0.42154	0.1190|0.1190	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	T|T	0.49370|0.49370	-0.8947|-0.8947	5|10	.|0.87932	.|D	.|0	-5.691|-5.691	19.3297|19.3297	0.94281|0.94281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|542	.|Q96HY7	.|DHTK1_HUMAN	V|S	93|542	.|ENSP00000263035:P542S	.|ENSP00000263035:P542S	A|P	+|+	2|1	0|0	DHTKD1|DHTKD1	12179954|12179954	1.000000|1.000000	0.71417|0.71417	0.814000|0.814000	0.32528|0.32528	0.027000|0.027000	0.11550|0.11550	5.686000|5.686000	0.68211|0.68211	2.571000|2.571000	0.86741|0.86741	0.462000|0.462000	0.41574|0.41574	GCC|CCA		0.567	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		4	258	0	0	0	1	0	4	258				
B3GALTL	145173	broad.mit.edu	37	13	31903770	31903770	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:31903770C>A	ENST00000343307.4	+	15	1611	c.1462C>A	c.(1462-1464)Cag>Aag	p.Q488K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	488					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAAAGCCAGGCAGGAGACACA	0.502																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1462-1464)Cag>Aag		beta 1,3-galactosyltransferase-like							121.0	125.0	123.0					13																	31903770		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31903770C>A	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1462C>A	13.37:g.31903770C>A	ENSP00000343002:p.Gln488Lys		Somatic					p.Q488K	NM_194318.3	NP_919299.3	WXS	Illumina GAIIx	Phase_I	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	15	1611	+		Lung SC(185;0.0257)	488					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.1462C>A	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926803	0.18056	.	.	ENSG00000187676	ENST00000343307	T	0.72167	-0.63	5.85	4.03	0.46877	.	0.869891	0.10415	N	0.677475	T	0.63438	0.2511	L	0.54323	1.7	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.50039	-0.8874	10	0.18276	T	0.48	-4.8265	9.5222	0.39143	0.2558:0.6777:0.0:0.0665	.	488	Q6Y288	B3GLT_HUMAN	K	488	ENSP00000343002:Q488K	ENSP00000343002:Q488K	Q	+	1	0	B3GALTL	30801770	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	0.050000	0.14120	1.438000	0.47492	0.585000	0.79938	CAG		0.502	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		32	150	1	0	1.21669e-08	1	1.31735e-08	32	150				
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G|CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3244-3246)ggC>ggA		Crm, cramped-like (Drosophila)							58.0	60.0	60.0					16																	1718106		2149	4255	6404	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1718106C>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3246C>A	16.37:g.1718106C>A			Somatic				CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G	p.G1082G			WXS	Illumina GAIIx	Phase_I	Q96RY5	CRML_HUMAN			18	3345	+			1082			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.3246C>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819163	0.16607	.	.	ENSG00000007545	ENST00000415022	.	.	.	5.68	-2.84	0.05751	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36432	-0.9748	4	.	.	.	-36.0731	4.027	0.09692	0.14:0.4684:0.2494:0.1421	.	.	.	.	T	183	.	.	P	+	1	0	CRAMP1L	1658107	0.885000	0.30320	0.847000	0.33407	0.638000	0.38207	0.038000	0.13862	-0.204000	0.10235	0.650000	0.86243	CCC		0.617	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			9	141	1	0	0.0581538	1	0.058937	9	141				
GPRC5C	55890	broad.mit.edu	37	17	72443073	72443073	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:72443073A>G	ENST00000392627.1	+	4	2493	c.1367A>G	c.(1366-1368)gAa>gGa	p.E456G	GPRC5C_ENST00000342648.5_Missense_Mutation_p.E96G|GPRC5C_ENST00000392629.2_Missense_Mutation_p.E423G|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000481232.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	411					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CTGCGGGCTGAAGACATGTAC	0.602																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1366-1368)gAa>gGa		G protein-coupled receptor, family C, group 5, member C							73.0	76.0	75.0					17																	72443073		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443073A>G	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1367A>G	17.37:g.72443073A>G	ENSP00000376403:p.Glu456Gly		Somatic				GPRC5C_ENST00000342648.5_Missense_Mutation_p.E96G|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.E423G	p.E456G	NM_022036.2	NP_071319.2	WXS	Illumina GAIIx	Phase_I	Q9NQ84	GPC5C_HUMAN			4	2493	+			411					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1367A>G	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652769	0.88056	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.22743	1.94	5.48	5.48	0.80851	.	0.380726	0.24229	N	0.040367	T	0.37972	0.1023	L	0.43152	1.355	0.46774	D	0.999191	D;P;P;P	0.76494	0.999;0.842;0.842;0.902	D;B;B;P	0.69479	0.964;0.321;0.395;0.6	T	0.11155	-1.0599	10	0.66056	D	0.02	-27.403	14.4052	0.67079	1.0:0.0:0.0:0.0	.	122;411;411;423	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	G	411;456;122;423;411	ENSP00000376405:E423G	ENSP00000262616:E122G	E	+	2	0	GPRC5C	69954668	1.000000	0.71417	0.957000	0.39632	0.959000	0.62525	6.476000	0.73587	2.094000	0.63399	0.459000	0.35465	GAA		0.602	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			61	95	0	0	0	1	0	61	95				
PHF3	23469	broad.mit.edu	37	6	64394355	64394355	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:64394355A>G	ENST00000262043.3	+	4	1072	c.732A>G	c.(730-732)ggA>ggG	p.G244G	PHF3_ENST00000393387.1_Silent_p.G244G|PHF3_ENST00000509330.1_Silent_p.G244G			Q92576	PHF3_HUMAN	PHD finger protein 3	244					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAATCCGGGAGAAATAGATG	0.343																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(730-732)ggA>ggG		PHD finger protein 3							100.0	98.0	99.0					6																	64394355		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394355A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.732A>G	6.37:g.64394355A>G			Somatic				PHF3_ENST00000393387.1_Silent_p.G244G|PHF3_ENST00000509330.1_Silent_p.G244G	p.G244G			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1072	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		244					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.732A>G	CCDS4966.1																																																																																				0.343	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			3	120	0	0	0	1	0	3	120				
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		6	424	0	0	0	1	0	6	424				
ZNF649	65251	broad.mit.edu	37	19	52394703	52394703	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52394703C>T	ENST00000354957.3	-	5	970	c.686G>A	c.(685-687)aGa>aAa	p.R229K	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	229					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)		TTTCTCTCCTCTGTGAGCTCT	0.488																																						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.(685-687)aGa>aAa		zinc finger protein 649							115.0	113.0	114.0					19																	52394703		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394703C>T	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.686G>A	19.37:g.52394703C>T	ENSP00000347043:p.Arg229Lys		Somatic				ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	p.R229K	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	970	-		all_neural(266;0.0602)	229					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.686G>A	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	4.276	0.050388	0.08243	.	.	ENSG00000198093	ENST00000354957	T	0.16597	2.33	2.33	-4.67	0.03319	Zinc finger, C2H2 (1);	.	.	.	.	T	0.09202	0.0227	N	0.12443	0.215	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38329	-0.9666	9	0.52906	T	0.07	.	10.7933	0.46445	0.0:0.2036:0.6406:0.1558	.	229	Q9BS31	ZN649_HUMAN	K	229	ENSP00000347043:R229K	ENSP00000347043:R229K	R	-	2	0	ZNF649	57086515	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.127000	0.00148	-4.619000	0.00039	-4.227000	0.00009	AGA		0.488	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		5	241	0	0	0	1	0	5	241				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_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_ENST00000540401.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_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	14	712	0	0	0	1	0	14	712				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile		Somatic				CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	222	0	0	0	1	0	6	222				
EPC1	80314	broad.mit.edu	37	10	32560798	32560798	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:32560798C>A	ENST00000263062.8	-	14	2391	c.2122G>T	c.(2122-2124)Gta>Tta	p.V708L	EPC1_ENST00000375110.2_Missense_Mutation_p.V635L|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000319778.6_Missense_Mutation_p.V685L	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	708					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTGTATGTACAAGTGCTGTT	0.398																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(2053-2055)Gta>Tta		enhancer of polycomb homolog 1 (Drosophila)							120.0	118.0	118.0					10																	32560798		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32560798C>A	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2122G>T	10.37:g.32560798C>A	ENSP00000263062:p.Val708Leu		Somatic				EPC1_ENST00000263062.8_Missense_Mutation_p.V708L|EPC1_ENST00000375110.2_Missense_Mutation_p.V635L	p.V685L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	WXS	Illumina GAIIx	Phase_I	Q9H2F5	EPC1_HUMAN			13	2355	-		Prostate(175;0.0199)	708					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.2053G>T	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903485	0.33628	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.52	4.61	0.57282	.	0.442499	0.22745	N	0.056147	T	0.44603	0.1301	N	0.25647	0.755	0.35254	D	0.778996	B;B;B	0.15473	0.001;0.002;0.013	B;B;B	0.17722	0.001;0.004;0.019	T	0.48875	-0.8996	9	0.22706	T	0.39	-4.1578	14.1623	0.65454	0.0:0.9282:0.0:0.0718	.	635;685;708	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	L	635;685;708	.	ENSP00000263062:V708L	V	-	1	0	EPC1	32600804	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.088000	0.57678	1.340000	0.45581	0.460000	0.39030	GTA		0.398	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			4	110	1	0	0.014758	1	0.0150582	4	110				
OR1J1	347168	broad.mit.edu	37	9	125239517	125239517	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:125239517G>T	ENST00000259357.2	-	1	718	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	230						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(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCCCTTGGTAGAGGGAATCTG	0.458																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(688-690)tCt>tAt		olfactory receptor, family 1, subfamily J, member 1							139.0	124.0	129.0					9																	125239517		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239517G>T	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.689C>A	9.37:g.125239517G>T	ENSP00000259357:p.Ser230Tyr		Somatic					p.S230Y	NM_001004451.1	NP_001004451.1	WXS	Illumina GAIIx	Phase_I	Q8NGS3	OR1J1_HUMAN			1	718	-			230					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.689C>A	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298543	0.40694	.	.	ENSG00000136834	ENST00000259357	T	0.00337	8.05	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.228496	0.31335	N	0.007831	T	0.01627	0.0052	H	0.97707	4.06	0.25824	N	0.984246	D	0.89917	1.0	D	0.78314	0.991	T	0.13926	-1.0491	10	0.87932	D	0	.	17.5239	0.87794	0.0:0.0:1.0:0.0	.	230	Q8NGS3	OR1J1_HUMAN	Y	230	ENSP00000259357:S230Y	ENSP00000259357:S230Y	S	-	2	0	OR1J1	124279338	0.353000	0.24904	0.221000	0.23827	0.018000	0.09664	3.624000	0.54231	2.754000	0.94517	0.597000	0.82753	TCT		0.458	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			8	217	1	0	0.000157383	1	0.000165061	8	217				
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1198-1200)aGa>aAa		zinc finger protein 564							140.0	144.0	143.0					19																	12637723		2203	4300	6503	SO:0001583	missense	163050							g.chr19:12637723C>T	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1199G>A	19.37:g.12637723C>T	ENSP00000340004:p.Arg400Lys		Somatic				CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.R400K	NM_144976.3	NP_659413.1	WXS	Illumina GAIIx	Phase_I					4	1395	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1199G>A	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	7.051	0.564517	0.13498	.	.	ENSG00000249709	ENST00000339282	T	0.07114	3.22	1.56	0.263	0.15602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.00605	-1.335	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46414	-0.9193	9	0.02654	T	1	.	5.0091	0.14302	0.0:0.2327:0.0:0.7673	.	400	Q8TBZ8	ZN564_HUMAN	K	400	ENSP00000340004:R400K	ENSP00000340004:R400K	R	-	2	0	ZNF564	12498723	0.565000	0.26610	0.010000	0.14722	0.890000	0.51754	0.515000	0.22801	0.050000	0.15949	0.643000	0.83706	AGA		0.433	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		5	334	0	0	0	1	0	5	334				
SERBP1	26135	broad.mit.edu	37	1	67890877	67890877	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:67890877C>T	ENST00000370995.2	-	3	579	c.494G>A	c.(493-495)cGt>cAt	p.R165H	SERBP1_ENST00000361219.6_Missense_Mutation_p.R165H|SERBP1_ENST00000484880.1_5'Flank|SERBP1_ENST00000370990.5_Missense_Mutation_p.R165H|SERBP1_ENST00000370994.4_Missense_Mutation_p.R165H			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	165					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						AAGACCACCACGACCTCGAAT	0.438																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(493-495)cGt>cAt		SERPINE1 mRNA binding protein 1							35.0	37.0	36.0					1																	67890877		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67890877C>T	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.494G>A	1.37:g.67890877C>T	ENSP00000360034:p.Arg165His		Somatic				SERBP1_ENST00000370990.5_Missense_Mutation_p.R165H|SERBP1_ENST00000370995.2_Missense_Mutation_p.R165H|SERBP1_ENST00000361219.6_Missense_Mutation_p.R165H	p.R165H	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	WXS	Illumina GAIIx	Phase_I	Q8NC51	PAIRB_HUMAN			3	608	-			165					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.494G>A	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916195	0.73098	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.82323	2.585	0.80722	D	1	D;B;B;B	0.76494	0.999;0.032;0.014;0.026	D;B;B;B	0.73380	0.98;0.004;0.006;0.01	T	0.77253	-0.2656	9	0.31617	T	0.26	-19.999	18.5865	0.91191	0.0:1.0:0.0:0.0	.	228;228;165;165	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	H	165	.	ENSP00000354591:R165H	R	-	2	0	SERBP1	67663465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.715000	0.84713	2.559000	0.86315	0.462000	0.41574	CGT		0.438	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		4	37	0	0	0	1	0	4	37				
KRT23	25984	broad.mit.edu	37	17	39084726	39084726	+	Missense_Mutation	SNP	C	C	T	rs541449842	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39084726C>T	ENST00000209718.3	-	5	1194	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.R120Q	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	257	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCAAGTCTCGATGCTTCTT	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		20774	0.0		0.0	False		,,,				2504	0.002					ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(769-771)cGa>cAa		keratin 23 (histone deacetylase inducible)							239.0	237.0	238.0					17																	39084726		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39084726C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.770G>A	17.37:g.39084726C>T	ENSP00000209718:p.Arg257Gln		Somatic				KRT23_ENST00000436344.3_Missense_Mutation_p.R120Q|AC004231.2_ENST00000418393.1_RNA	p.R257Q	NM_015515.3	NP_056330.3	WXS	Illumina GAIIx	Phase_I	Q9C075	K1C23_HUMAN			5	1194	-		Breast(137;0.000301)|Ovarian(249;0.15)	257			Coil 2.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.770G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468648	0.26335	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.87966	-2.32;-2.32	5.82	-0.497	0.12023	Filament (1);	0.402896	0.21189	N	0.078668	T	0.68339	0.2990	N	0.03930	-0.32	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.56463	-0.7975	10	0.29301	T	0.29	.	10.9103	0.47106	0.0:0.3828:0.0:0.6171	.	257	Q9C075	K1C23_HUMAN	Q	257;120	ENSP00000209718:R257Q;ENSP00000414056:R120Q	ENSP00000209718:R257Q	R	-	2	0	KRT23	36338252	0.473000	0.25878	0.689000	0.30133	0.898000	0.52572	0.272000	0.18644	-0.091000	0.12440	-0.982000	0.02568	CGA		0.423	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			33	323	0	0	0	1	0	33	323				
ACSL3	2181	broad.mit.edu	37	2	223782762	223782762	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:223782762A>T	ENST00000357430.3	+	6	1087		c.e6-1		ACSL3_ENST00000392066.3_Splice_Site|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3						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)	TTTTCCTTTTAGTTGTTACAT	0.358			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.e6-1		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						111.0	107.0	109.0					2																	223782762		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:223782762A>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.557-1A>T	2.37:g.223782762A>T			Somatic				AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Splice_Site		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	1087	+		Renal(207;0.0183)						Q60I92|Q8IUM9	Splice_Site	SNP	ENST00000357430.3	37		CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.884822	0.72410	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8282	0.70130	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSL3	223491006	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	8.757000	0.91657	2.094000	0.63399	0.533000	0.62120	.		0.358	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	Intron	7	139	0	0	0	1	0	7	139				
ZNF28	7576	broad.mit.edu	37	19	53311289	53311289	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:53311289A>G	ENST00000457749.2	-	3	232	c.113T>C	c.(112-114)cTg>cCg	p.L38P	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000438150.2_5'Flank|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_Missense_Mutation_p.L2P|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.L38P	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATAATTCTCCAGCATCACATC	0.507																																						ENST00000457749.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(112-114)cTg>cCg		zinc finger protein 28																																				SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53311289A>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.113T>C	19.37:g.53311289A>G	ENSP00000397693:p.Leu38Pro		Somatic				ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_Missense_Mutation_p.L2P|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.L38P	p.L38P	NM_006969.3	NP_008900.3	WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	232	-			38			KRAB.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.113T>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	6.818	0.520114	0.13005	.	.	ENSG00000198538	ENST00000457749	T	0.03242	4.0	1.87	0.712	0.18167	Krueppel-associated box (4);	.	.	.	.	T	0.22627	0.0546	H	0.98664	4.295	0.44316	D	0.997193	D	0.65815	0.995	P	0.61658	0.892	T	0.01382	-1.1369	9	0.87932	D	0	.	5.8303	0.18577	0.3673:0.0:0.0:0.6327	.	38	P17035	ZNF28_HUMAN	P	38	ENSP00000397693:L38P	ENSP00000397693:L38P	L	-	2	0	ZNF28	58003101	0.035000	0.19736	0.027000	0.17364	0.005000	0.04900	0.119000	0.15626	-0.014000	0.14175	0.327000	0.21459	CTG		0.507	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		4	406	0	0	0	1	0	4	406				
HSPG2	3339	broad.mit.edu	37	1	22207840	22207840	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:22207840C>T	ENST00000374695.3	-	14	1889	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	604	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCTTGTTGCCCAGGAACTGT	0.612																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(1810-1812)Ggc>Agc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						87.0	89.0	88.0					1																	22207840		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22207840C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1810G>A	1.37:g.22207840C>T	ENSP00000363827:p.Gly604Ser		Somatic					p.G604S	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	14	1889	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	604			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.1810G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	35	5.430167	0.96131	.	.	ENSG00000142798	ENST00000374695	T	0.73681	-0.77	5.55	5.55	0.83447	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.40640	N	0.001045	D	0.89529	0.6741	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91741	0.5404	10	0.87932	D	0	.	17.0061	0.86393	0.0:1.0:0.0:0.0	.	604	P98160	PGBM_HUMAN	S	604	ENSP00000363827:G604S	ENSP00000363827:G604S	G	-	1	0	HSPG2	22080427	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.620000	0.67736	2.597000	0.87782	0.655000	0.94253	GGC		0.612	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		39	109	0	0	0	1	0	39	109				
HSD17B7P2	158160	broad.mit.edu	37	10	38651166	38651166	+	RNA	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:38651166A>T	ENST00000494540.1	+	0	314					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TTGGTGGTTTAGTTGCAGGTT	0.383																																						ENST00000494540.1																			0																																																			158160							g.chr10:38651166A>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38651166A>T			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	314	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.383	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	92	0	0	0	1	0	5	92				
LARGE	9215	broad.mit.edu	37	22	33700423	33700423	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:33700423C>T	ENST00000354992.2	-	13	2093	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	LARGE_ENST00000452586.2_Missense_Mutation_p.A307T|LARGE_ENST00000437602.2_Missense_Mutation_p.A508T|LARGE_ENST00000397394.2_Missense_Mutation_p.A508T|LARGE_ENST00000402320.1_Missense_Mutation_p.A456T|LARGE_ENST00000337431.2_Missense_Mutation_p.A456T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	508					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGGGCCTCGGCGTCTGACAGG	0.637																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1522-1524)Gcc>Acc		like-glycosyltransferase							51.0	43.0	46.0					22																	33700423		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700423C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1522G>A	22.37:g.33700423C>T	ENSP00000347088:p.Ala508Thr		Somatic				LARGE_ENST00000452586.2_Missense_Mutation_p.A307T|LARGE_ENST00000437602.2_Missense_Mutation_p.A508T|LARGE_ENST00000337431.2_Missense_Mutation_p.A456T|LARGE_ENST00000397394.2_Missense_Mutation_p.A508T|LARGE_ENST00000402320.1_Missense_Mutation_p.A456T	p.A508T	NM_004737.4	NP_004728.1	WXS	Illumina GAIIx	Phase_I	O95461	LARGE_HUMAN			13	2093	-		Lung NSC(1;0.219)	508					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1522G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993419	0.54041	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.52057	1.13;1.18;1.13;1.18;0.68;2.06	5.27	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.47716	1.5	0.80722	D	1	P;B;P;D	0.54397	0.873;0.147;0.839;0.966	B;B;B;P	0.51229	0.392;0.021;0.334;0.663	T	0.44802	-0.9304	10	0.28530	T	0.3	-0.0252	15.2024	0.73150	0.142:0.858:0.0:0.0	.	508;307;456;508	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	T	185;185;508;456;508;456;307;508	ENSP00000347088:A508T;ENSP00000336636:A456T;ENSP00000380549:A508T;ENSP00000385223:A456T;ENSP00000407917:A307T;ENSP00000388544:A508T	ENSP00000336636:A456T	A	-	1	0	LARGE	32030423	1.000000	0.71417	0.893000	0.35052	0.771000	0.43674	7.257000	0.78362	1.204000	0.43247	-0.181000	0.13052	GCC		0.637	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		56	167	0	0	0	1	0	56	167				
GPR98	84059	broad.mit.edu	37	5	90079095	90079095	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:90079095G>A	ENST00000405460.2	+	66	13482	c.13386G>A	c.(13384-13386)ggG>ggA	p.G4462G	GPR98_ENST00000425867.2_Silent_p.G123G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4462	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	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)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGCATGGGCAAAACTTAA	0.388																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(13384-13386)ggG>ggA		G protein-coupled receptor 98							84.0	80.0	81.0					5																	90079095		1885	4126	6011	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90079095G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13386G>A	5.37:g.90079095G>A			Somatic				GPR98_ENST00000425867.2_Silent_p.G123G	p.G4462G	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13482	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4462			Calx-beta 30.		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13386G>A	CCDS47246.1																																																																																				0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		71	81	0	0	0	1	0	71	81				
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:98887143A>T	ENST00000477737.1	+	22	3047		c.e22-1		VWA3B_ENST00000490947.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tttgtttTTTAGGTTAGATGC	0.318																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.e22-1		von Willebrand factor A domain containing 3B							58.0	56.0	57.0					2																	98887143		1807	4074	5881	SO:0001630	splice_region_variant	200403							g.chr2:98887143A>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2844-1A>T	2.37:g.98887143A>T			Somatic				VWA3B_ENST00000490947.2_Splice_Site		NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			22	3047	+								B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP	ENST00000477737.1	37		CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001228	0.54254	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4525	0.50160	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98253575	0.997000	0.39634	0.891000	0.34965	0.806000	0.45545	4.563000	0.60823	1.958000	0.56883	0.533000	0.62120	.		0.318	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Intron	5	133	0	0	0	1	0	5	133				
JAK1	3716	broad.mit.edu	37	1	65332750	65332750	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:65332750C>T	ENST00000342505.4	-	7	1037	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	263	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)	TCAGGTCATGCGTGGACACGC	0.398			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.(787-789)acG>acA		Janus kinase 1							193.0	179.0	183.0					1																	65332750		1904	4133	6037	SO:0001819	synonymous_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.chr1:65332750C>T	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.789G>A	1.37:g.65332750C>T			Somatic					p.T263T	NM_002227.2	NP_002218.2	WXS	Illumina GAIIx	Phase_I	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	7	1037	-			263			FERM.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.789G>A	CCDS41346.1																																																																																				0.398	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		5	743	0	0	0	1	0	5	743				
MTFR1	9650	broad.mit.edu	37	8	66619369	66619369	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:66619369A>G	ENST00000262146.4	+	6	768	c.642A>G	c.(640-642)cgA>cgG	p.R214R	MTFR1_ENST00000458689.2_Silent_p.R181R|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	214	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTAAAGAACGAAGAGAGAAAA	0.483																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(640-642)cgA>cgG		mitochondrial fission regulator 1							72.0	72.0	72.0					8																	66619369		2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66619369A>G		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.642A>G	8.37:g.66619369A>G			Somatic				MTFR1_ENST00000458689.2_Silent_p.R181R|MTFR1_ENST00000517944.1_3'UTR	p.R214R	NM_014637.3	NP_055452.3	WXS	Illumina GAIIx	Phase_I	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	768	+			214					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.642A>G	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.298|3.298	-0.143444|-0.143444	0.06669|0.06669	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000527155	.|.	.|.	.|.	5.49|5.49	-2.02|-2.02	0.07388|0.07388	.|.	.|.	.|.	.|.	.|.	T|T	0.38931|0.38931	0.1059|0.1059	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30794|0.30794	-0.9966|-0.9966	4|4	.|.	.|.	.|.	-2.8036|-2.8036	1.1072|1.1072	0.01697|0.01697	0.3553:0.116:0.3027:0.2259|0.3553:0.116:0.3027:0.2259	.|.	.|.	.|.	.|.	G|E	172|28	.|.	.|.	E|K	+|+	2|1	0|0	MTFR1|MTFR1	66781923|66781923	0.987000|0.987000	0.35691|0.35691	0.404000|0.404000	0.26397|0.26397	0.237000|0.237000	0.25408|0.25408	0.221000|0.221000	0.17680|0.17680	-0.226000|-0.226000	0.09899|0.09899	-0.256000|-0.256000	0.11100|0.11100	GAA|AAG		0.483	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		28	150	0	0	0	1	0	28	150				
ERC1	23085	broad.mit.edu	37	12	1299182	1299182	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:1299182A>G	ENST00000397203.2	+	12	2721	c.2315A>G	c.(2314-2316)aAg>aGg	p.K772R	ERC1_ENST00000355446.5_Missense_Mutation_p.K772R|ERC1_ENST00000546231.2_Missense_Mutation_p.K772R|ERC1_ENST00000543086.3_Missense_Mutation_p.K744R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K772R|ERC1_ENST00000589028.1_Missense_Mutation_p.K772R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	772					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAAATGAGAAGAATGACAAA	0.403																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2314-2316)aAg>aGg		ELKS/RAB6-interacting/CAST family member 1							113.0	115.0	114.0					12																	1299182		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1299182A>G	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2315A>G	12.37:g.1299182A>G	ENSP00000380386:p.Lys772Arg		Somatic				ERC1_ENST00000355446.5_Missense_Mutation_p.K772R|ERC1_ENST00000546231.2_Missense_Mutation_p.K772R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K772R|ERC1_ENST00000543086.3_Missense_Mutation_p.K744R|ERC1_ENST00000589028.1_Missense_Mutation_p.K772R	p.K772R			WXS	Illumina GAIIx	Phase_I	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		12	2721	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		772					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.2315A>G	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415522	0.83449	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.88	5.88	0.94601	.	0.049592	0.85682	D	0.000000	T	0.60327	0.2260	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.999;0.999;0.994	D;D;D;D;D	0.87578	0.998;0.983;0.994;0.994;0.993	T	0.55029	-0.8204	10	0.16420	T	0.52	-23.2937	16.2792	0.82664	1.0:0.0:0.0:0.0	.	520;412;744;744;772	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	744;772;744;744;472;744;744;472;772;772;772;744;520;412	ENSP00000340054:K744R;ENSP00000380386:K772R;ENSP00000438546:K744R;ENSP00000442976:K472R;ENSP00000442739:K772R;ENSP00000347621:K772R;ENSP00000354158:K772R;ENSP00000410064:K744R	ENSP00000299183:K472R	K	+	2	0	ERC1	1169443	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.243000	0.73865	0.533000	0.62120	AAG		0.403	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		34	303	0	0	0	1	0	34	303				
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000354608.5_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000460330.1_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_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000354608.5_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	256	0	0	0	1	0	7	256				
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587																																						ENST00000369155.2																			2	Substitution - Missense(2)	p.G54D(2)	lung(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(160-162)gGc>gAc		histone cluster 2, H2be							179.0	169.0	173.0					1																	149858030		2203	4298	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858030C>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.161G>A	1.37:g.149858030C>T	ENSP00000358151:p.Gly54Asp		Somatic					p.G54D	NM_003528.2	NP_003519.1	WXS	Illumina GAIIx	Phase_I	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	202	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.161G>A	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885533	0.91814	.	.	ENSG00000184678	ENST00000369155	T	0.69435	-0.4	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.93150	3.385	0.50171	D	0.999859	D	0.61697	0.99	D	0.64595	0.927	D	0.87651	0.2528	10	0.87932	D	0	.	18.9081	0.92471	0.0:1.0:0.0:0.0	.	54	Q16778	H2B2E_HUMAN	D	54	ENSP00000358151:G54D	ENSP00000358151:G54D	G	-	2	0	HIST2H2BE	148124654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.810000	0.96702	0.586000	0.80456	GGC		0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		5	930	0	0	0	1	0	5	930				
MUC16	94025	broad.mit.edu	37	19	8994156	8994156	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:8994156C>T	ENST00000397910.4	-	65	41732	c.41529G>A	c.(41527-41529)agG>agA	p.R13843R	MUC16_ENST00000380951.5_Silent_p.R484R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13846	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						GCAAGGTCAGCCTGCAGCCAG	0.532																																						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.(41527-41529)agG>agA		mucin 16, cell surface associated							105.0	92.0	96.0					19																	8994156		1983	4168	6151	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8994156C>T	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.41529G>A	19.37:g.8994156C>T			Somatic				MUC16_ENST00000380951.5_Silent_p.R484R	p.R13843R	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			65	41732	-			13846	Missing (in Ref. 3; AAK74120).		SEA 12.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41529G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.261	1.043264	0.19748	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.74	-1.65	0.08291	.	.	.	.	.	T	0.18299	0.0439	.	.	.	.	.	.	.	.	.	.	.	.	T	0.24799	-1.0150	3	.	.	.	.	0.4168	0.00449	0.1803:0.2244:0.1854:0.4099	.	.	.	.	D	683	.	.	G	-	2	0	MUC16	8855156	0.000000	0.05858	0.023000	0.16930	0.662000	0.39071	-1.420000	0.02457	-0.486000	0.06744	-0.300000	0.09419	GGC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	568	0	0	0	1	0	6	568				
PTPRD	5789	broad.mit.edu	37	9	8404651	8404651	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:8404651G>A	ENST00000381196.4	-	33	4639	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	PTPRD_ENST00000356435.5_Missense_Mutation_p.P1366S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P959S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P956S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P956S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1353S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P959S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1344S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P960S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P959S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1366S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1366	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCTGGCCAGGGTCAATTGAC	0.353										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4096-4098)Cct>Tct		protein tyrosine phosphatase, receptor type, D							124.0	113.0	117.0					9																	8404651		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8404651G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4096C>T	9.37:g.8404651G>A	ENSP00000370593:p.Pro1366Ser	TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000360074.4_Missense_Mutation_p.P1353S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P956S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P959S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P956S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P959S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P960S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1366S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1344S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1366S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P959S	p.P1366S	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	33	4639	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1366			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4096C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137953	0.77775	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.28014	0.82	0.80722	D	1	D;D;D;D;P;D;D;D;P	0.89917	0.989;0.989;0.989;0.989;0.765;0.994;0.987;1.0;0.82	P;P;P;P;B;D;P;D;B	0.79784	0.887;0.887;0.887;0.887;0.233;0.947;0.72;0.993;0.139	T	0.04723	-1.0931	9	.	.	.	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	959;950;959;960;956;956;1353;1366;1366	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	1366;1366;1353;1344;960;959;956;956;837;1366;959;959	ENSP00000370593:P1366S;ENSP00000348812:P1366S;ENSP00000353187:P1353S;ENSP00000351293:P1344S;ENSP00000347373:P960S;ENSP00000380741:P959S;ENSP00000380735:P956S;ENSP00000440515:P956S;ENSP00000438164:P1366S;ENSP00000417093:P959S;ENSP00000380731:P959S	.	P	-	1	0	PTPRD	8394651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.805000	0.99149	2.850000	0.98022	0.650000	0.86243	CCT		0.353	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	40	0	0	0	1	0	8	40				
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000379708.3_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_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site		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	5	165	0	0	0	1	0	5	165				
IPO13	9670	broad.mit.edu	37	1	44425996	44425996	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:44425996G>A	ENST00000372343.3	+	12	2766	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	702					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGCCCAGGTTGTGGAGGTGAG	0.542																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2104-2106)Gtg>Atg		importin 13							273.0	216.0	235.0					1																	44425996		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425996G>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2104G>A	1.37:g.44425996G>A	ENSP00000361418:p.Val702Met		Somatic					p.V702M	NM_014652.3	NP_055467.3	WXS	Illumina GAIIx	Phase_I	O94829	IPO13_HUMAN			12	2766	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	702					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.2104G>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537549	0.65085	.	.	ENSG00000117408	ENST00000372343	T	0.67523	-0.27	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.46157	1.445	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.55276	-0.8166	10	0.25751	T	0.34	-16.0866	19.9142	0.97043	0.0:0.0:1.0:0.0	.	702	O94829	IPO13_HUMAN	M	702	ENSP00000361418:V702M	ENSP00000361418:V702M	V	+	1	0	IPO13	44198583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.530000	0.98051	2.941000	0.99782	0.655000	0.94253	GTG		0.542	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		5	389	0	0	0	1	0	5	389				
PAGE1	8712	broad.mit.edu	37	X	49454055	49454055	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:49454055C>T	ENST00000376150.3	-	5	516	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	128					cellular defense response (GO:0006968)			p.L128L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTGGATTTGGCAGGCCCAACT	0.488																																						ENST00000376150.3																			1	Substitution - coding silent(1)	p.L128L(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(382-384)ctG>ctA		P antigen family, member 1 (prostate associated)							110.0	97.0	101.0					X																	49454055		2203	4300	6503	SO:0001819	synonymous_variant	8712				cellular defense response			g.chrX:49454055C>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.384G>A	X.37:g.49454055C>T			Somatic					p.L128L	NM_003785.3	NP_003776.2	WXS	Illumina GAIIx	Phase_I	O75459	GAGB1_HUMAN			5	516	-	Ovarian(276;0.236)		128					Q6FGM3|Q9BSS7	Silent	SNP	ENST00000376150.3	37	c.384G>A	CCDS14327.1																																																																																				0.488	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			4	355	0	0	0	1	0	4	355				
ELMO1	9844	broad.mit.edu	37	7	37262227	37262227	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:37262227C>G	ENST00000310758.4	-	10	1420	c.773G>C	c.(772-774)aGg>aCg	p.R258T	ELMO1_ENST00000442504.1_Missense_Mutation_p.R258T|ELMO1_ENST00000448602.1_Missense_Mutation_p.R258T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	258					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACCTGCCTCCTCTCATCAGG	0.428																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(772-774)aGg>aCg		engulfment and cell motility 1							138.0	128.0	132.0					7																	37262227		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37262227C>G	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.773G>C	7.37:g.37262227C>G	ENSP00000312185:p.Arg258Thr		Somatic				ELMO1_ENST00000448602.1_Missense_Mutation_p.R258T|ELMO1_ENST00000442504.1_Missense_Mutation_p.R258T	p.R258T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina GAIIx	Phase_I	Q92556	ELMO1_HUMAN			10	1420	-			258					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.773G>C	CCDS5449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.43|13.43	2.235613|2.235613	0.39498|0.39498	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	.|T;T;T	.|0.51817	.|0.69;0.69;0.69	5.66|5.66	2.85|2.85	0.33270|0.33270	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.104540	.|0.64402	.|D	.|0.000004	T|T	0.41673|0.41673	0.1169|0.1169	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.27286	.|0.174	.|B	.|0.38655	.|0.278	T|T	0.29458|0.29458	-1.0011|-1.0011	5|10	.|0.39692	.|T	.|0.17	.|.	9.4712|9.4712	0.38844|0.38844	0.0:0.6495:0.0:0.3505|0.0:0.6495:0.0:0.3505	.|.	.|258	.|Q92556	.|ELMO1_HUMAN	R|T	23|258;162;258;258	.|ENSP00000312185:R258T;ENSP00000406952:R258T;ENSP00000394458:R258T	.|ENSP00000312185:R258T	G|R	-|-	1|2	0|0	ELMO1|ELMO1	37228752|37228752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	1.617000|1.617000	0.36943|0.36943	0.866000|0.866000	0.35629|0.35629	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.428	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		250	241	0	0	0	1	0	250	241				
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1						aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.e8-1		mitochondrial fission regulator 1							119.0	130.0	126.0					8																	66621209		2203	4300	6503	SO:0001630	splice_region_variant	9650					mitochondrion|plasma membrane		g.chr8:66621209A>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.934-1A>T	8.37:g.66621209A>T			Somatic				MTFR1_ENST00000458689.2_Splice_Site		NM_014637.3	NP_055452.3	WXS	Illumina GAIIx	Phase_I	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		8	1059	+								E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Splice_Site	SNP	ENST00000262146.4	37		CCDS6182.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638666	0.47153	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000518800	.	.	.	4.11	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.912	0.41411	0.9131:0.0:0.0869:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTFR1	66783763	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.010000	0.88615	1.866000	0.54105	0.533000	0.62120	.		0.403	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	Intron	5	208	0	0	0	1	0	5	208				
BPTF	2186	broad.mit.edu	37	17	65907954	65907954	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:65907954G>T	ENST00000321892.4	+	13	4393	c.4332G>T	c.(4330-4332)caG>caT	p.Q1444H	BPTF_ENST00000306378.6_Missense_Mutation_p.Q1318H|BPTF_ENST00000424123.3_Missense_Mutation_p.Q1305H|BPTF_ENST00000335221.5_Missense_Mutation_p.Q1444H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1444					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCTGAACAGTTCAGAACTC	0.423																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4330-4332)caG>caT		bromodomain PHD finger transcription factor							83.0	83.0	83.0					17																	65907954		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907954G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4332G>T	17.37:g.65907954G>T	ENSP00000315454:p.Gln1444His		Somatic				BPTF_ENST00000424123.3_Missense_Mutation_p.Q1305H|BPTF_ENST00000306378.6_Missense_Mutation_p.Q1318H|BPTF_ENST00000335221.5_Missense_Mutation_p.Q1444H	p.Q1444H			WXS	Illumina GAIIx	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4393	+	all_cancers(12;6e-11)		1444					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4332G>T		.	.	.	.	.	.	.	.	.	.	G	2.524	-0.310016	0.05458	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62498	0.02;0.03;0.02	5.48	0.825	0.18824	.	.	.	.	.	T	0.47600	0.1454	N	0.19112	0.55	0.09310	N	1	D;P	0.54964	0.969;0.911	B;P	0.44811	0.346;0.461	T	0.37753	-0.9692	9	0.51188	T	0.08	-0.3879	9.8929	0.41300	0.2303:0.1486:0.6211:0.0	.	1318;1444	Q12830-2;Q12830-4	.;.	H	1318;1444;1444	ENSP00000307208:Q1318H;ENSP00000334351:Q1444H;ENSP00000315454:Q1444H	ENSP00000307208:Q1318H	Q	+	3	2	BPTF	63338416	0.244000	0.23889	0.377000	0.26055	0.113000	0.19764	0.432000	0.21461	0.230000	0.21059	-0.355000	0.07637	CAG		0.423	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		13	134	1	0	7.93312e-07	1	8.4377e-07	13	134				
KMT2C	58508	broad.mit.edu	37	7	152007049	152007049	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:152007049A>T	ENST00000262189.6	-	6	1068		c.e6+1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTCTACTTACTTCTGTGCT	0.378																																						ENST00000355193.2																			0											c.e6+1		lysine (K)-specific methyltransferase 2C							90.0	79.0	82.0					7																	152007049		2203	4300	6503	SO:0001630	splice_region_variant	58508							g.chr7:152007049A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.849+1T>A	7.37:g.152007049A>T			Somatic				KMT2C_ENST00000262189.6_Splice_Site				WXS	Illumina GAIIx	Phase_I					6	1068	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37		CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314055	0.81358	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7623	0.78096	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151637982	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.260000	0.89857	2.206000	0.71126	0.533000	0.62120	.		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Intron	4	158	0	0	0	1	0	4	158				
ARHGAP24	83478	broad.mit.edu	37	4	86893269	86893269	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:86893269A>C	ENST00000395184.1	+	6	1146	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.K134T|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.K132T|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.K227T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	227	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCTTATGCGAAGTATGAAGAT	0.403																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(679-681)aAg>aCg		Rho GTPase activating protein 24							118.0	111.0	113.0					4																	86893269		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86893269A>C	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.680A>C	4.37:g.86893269A>C	ENSP00000378611:p.Lys227Thr		Somatic				ARHGAP24_ENST00000395183.2_Missense_Mutation_p.K132T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.K134T|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.K227T	p.K227T	NM_001025616.2	NP_001020787.2	WXS	Illumina GAIIx	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	6	1146	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	227			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.680A>C	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.845978	0.51164	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	5.48	5.48	0.80851	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	L	0.37750	1.13	0.80722	D	1	D;P;D;D	0.69078	0.974;0.523;0.995;0.997	P;P;D;D	0.63283	0.786;0.454;0.913;0.913	T	0.01326	-1.1384	10	0.42905	T	0.14	.	15.5717	0.76345	1.0:0.0:0.0:0.0	.	132;134;227;227	Q8N264-3;Q8N264-2;Q8N264;Q8N264-4	.;.;RHG24_HUMAN;.	T	227;227;132;101;142;134	ENSP00000378611:K227T;ENSP00000423206:K227T;ENSP00000378610:K132T;ENSP00000424256:K101T;ENSP00000425589:K142T;ENSP00000264343:K134T	ENSP00000264343:K134T	K	+	2	0	ARHGAP24	87112293	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	7.172000	0.77604	2.076000	0.62316	0.482000	0.46254	AAG		0.403	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		11	234	0	0	0	1	0	11	234				
MEX3B	84206	broad.mit.edu	37	15	82336581	82336581	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:82336581C>A	ENST00000329713.4	-	2	1065	c.630G>T	c.(628-630)atG>atT	p.M210I	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	210	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGTTCTCTGGCATGCCGGTCA	0.612																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(628-630)atG>atT		mex-3 RNA binding family member B							140.0	130.0	133.0					15																	82336581		2203	4300	6503	SO:0001583	missense	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336581C>A	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.630G>T	15.37:g.82336581C>A	ENSP00000329918:p.Met210Ile		Somatic				MEX3B_ENST00000558133.1_3'UTR	p.M210I	NM_032246.3	NP_115622.2	WXS	Illumina GAIIx	Phase_I	Q6ZN04	MEX3B_HUMAN			2	1065	-			210			KH 2.		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	c.630G>T	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920577	0.92249	.	.	ENSG00000183496	ENST00000329713	T	0.28666	1.6	4.98	4.98	0.66077	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.044747	0.85682	D	0.000000	T	0.43919	0.1269	L	0.44542	1.39	0.80722	D	1	P	0.41947	0.766	P	0.54499	0.754	T	0.21449	-1.0245	10	0.49607	T	0.09	-36.0099	17.1854	0.86865	0.0:1.0:0.0:0.0	.	210	Q6ZN04	MEX3B_HUMAN	I	210	ENSP00000329918:M210I	ENSP00000329918:M210I	M	-	3	0	MEX3B	80123636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.604000	0.67626	2.584000	0.87258	0.655000	0.94253	ATG		0.612	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		117	91	1	0	1.50597e-38	1	1.68512e-38	117	91				
SLCO1B3	28234	broad.mit.edu	37	12	21036504	21036504	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:21036504A>G	ENST00000381545.3	+	13	1869	c.1650A>G	c.(1648-1650)acA>acG	p.T550T	SLCO1B3_ENST00000261196.2_Silent_p.T550T|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.T550T|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.T550T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	550					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCTCTGCAACAGGAGGTACCA	0.348																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1648-1650)acA>acG		solute carrier organic anion transporter family, member 1B3							102.0	101.0	101.0					12																	21036504		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21036504A>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1650A>G	12.37:g.21036504A>G			Somatic				LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.T550T|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.T550T|SLCO1B3_ENST00000261196.2_Silent_p.T550T	p.T550T	NM_019844.3	NP_062818.1	WXS	Illumina GAIIx	Phase_I	Q9NPD5	SO1B3_HUMAN			13	1869	+	Esophageal squamous(101;0.149)		550					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1650A>G	CCDS8684.1																																																																																				0.348	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		39	99	0	0	0	1	0	39	99				
FLG	2312	broad.mit.edu	37	1	152284813	152284813	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:152284813C>G	ENST00000368799.1	-	3	2584	c.2549G>C	c.(2548-2550)aGa>aCa	p.R850T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	850	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTTCCTCTTCTGCTTGA	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2548-2550)aGa>aCa		filaggrin							330.0	328.0	328.0					1																	152284813		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284813C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2549G>C	1.37:g.152284813C>G	ENSP00000357789:p.Arg850Thr		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R850T	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		850			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2549G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.381	0.255618	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.04275	3.66	3.73	0.501	0.16925	.	.	.	.	.	T	0.01092	0.0036	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45585	-0.9251	9	0.13853	T	0.58	.	11.1336	0.48362	0.0:0.4308:0.5692:0.0	.	850	P20930	FILA_HUMAN	T	850	ENSP00000357789:R850T	ENSP00000357789:R850T	R	-	2	0	FLG	150551437	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.981000	0.03766	-0.063000	0.13065	-0.510000	0.04470	AGA		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	518	0	0	0	1	0	5	518				
HEPH	9843	broad.mit.edu	37	X	65392238	65392238	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:65392238G>T	ENST00000343002.2	+	2	873	c.209G>T	c.(208-210)gGg>gTg	p.G70V	HEPH_ENST00000419594.1_Missense_Mutation_p.G73V|HEPH_ENST00000374727.3_Missense_Mutation_p.G73V|HEPH_ENST00000519389.1_Missense_Mutation_p.G124V|HEPH_ENST00000441993.2_Missense_Mutation_p.G73V|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	70	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AACCGGATAGGGGGAACCTAC	0.483																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(370-372)gGg>gTg		hephaestin							51.0	48.0	49.0					X																	65392238		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65392238G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.209G>T	X.37:g.65392238G>T	ENSP00000343939:p.Gly70Val		Somatic				HEPH_ENST00000419594.1_Missense_Mutation_p.G73V|HEPH_ENST00000441993.2_Missense_Mutation_p.G73V|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000343002.2_Missense_Mutation_p.G70V|HEPH_ENST00000374727.3_Missense_Mutation_p.G73V	p.G124V			WXS	Illumina GAIIx	Phase_I	Q9BQS7	HEPH_HUMAN			3	550	+			70			Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.371G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.970865	0.74246	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99507	-6.04;-6.04;-6.04;-6.04;-6.04;-6.04;-6.04	4.92	4.92	0.64577	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.97566	1.0101	10	0.87932	D	0	.	15.748	0.77962	0.0:0.0:1.0:0.0	.	124;73;70	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	124;73;70;73;73;70;70	ENSP00000430620:G124V;ENSP00000363859:G73V;ENSP00000396907:G70V;ENSP00000411687:G73V;ENSP00000413211:G73V;ENSP00000343939:G70V;ENSP00000398078:G70V	ENSP00000343939:G70V	G	+	2	0	HEPH	65308963	1.000000	0.71417	0.975000	0.42487	0.599000	0.36880	9.489000	0.97949	2.283000	0.76528	0.594000	0.82650	GGG		0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	47	1	0	1.76689e-08	1	1.90622e-08	8	47				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly		Somatic				CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	174	0	0	0	1	0	5	174				
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:155533589T>A	ENST00000336098.3	-	2	117		c.e2-2		FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000404648.3_Splice_Site|FGG_ENST00000405164.1_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	4	165	0	0	0	1	0	4	165				
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:161020597A>G	ENST00000316300.5	-	20	3266	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000447678.1_Silent_p.T1074T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3220-3222)acT>acC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						283.0	303.0	296.0					6																	161020597		2203	4300	6503	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020597A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3222T>C	6.37:g.161020597A>G			Somatic				LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3342	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3582			Kringle 10.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3222T>C	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	827	0	0	0	1	0	6	827				
MEX3A	92312	broad.mit.edu	37	1	156047265	156047265	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:156047265G>A	ENST00000532414.2	-	2	662	c.663C>T	c.(661-663)ccC>ccT	p.P221P	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	221						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCACCTGGCCGGGCAGAGCAG	0.652																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(661-663)ccC>ccT		mex-3 RNA binding family member A							48.0	58.0	54.0					1																	156047265		2161	4272	6433	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047265G>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.663C>T	1.37:g.156047265G>A			Somatic				MEX3A_ENST00000442784.1_5'UTR	p.P221P	NM_001093725.1	NP_001087194.1	WXS	Illumina GAIIx	Phase_I	A1L020	MEX3A_HUMAN			2	662	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		221						Silent	SNP	ENST00000532414.2	37	c.663C>T	CCDS53377.1																																																																																				0.652	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		16	24	0	0	0	1	0	16	24				
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys		Somatic				NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C	p.R84C	NM_005008.3	NP_004999.1	WXS	Illumina GAIIx	Phase_I	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		5	378	0	0	0	1	0	5	378				
PRRG4	79056	broad.mit.edu	37	11	32852052	32852052	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:32852052A>T	ENST00000257836.3	+	2	231		c.e2-1			NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					tGTTTGTTTTAGTTTGTTTGA	0.423																																						ENST00000257836.3																			0				large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.e2-1		proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							57.0	54.0	55.0					11																	32852052		2202	4299	6501	SO:0001630	splice_region_variant	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32852052A>T	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.-22-1A>T	11.37:g.32852052A>T			Somatic						NM_024081.5	NP_076986.1	WXS	Illumina GAIIx	Phase_I	Q9BZD6	TMG4_HUMAN			2	231	+	Breast(20;0.206)								Splice_Site	SNP	ENST00000257836.3	37		CCDS7881.1																																																																																				0.423	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081	Intron	4	23	0	0	0	1	0	4	23				
PRDM10	56980	broad.mit.edu	37	11	129814665	129814665	+	Splice_Site	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:129814665C>A	ENST00000360871.3	-	6	994		c.e6+1		PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000423662.2_Splice_Site|PRDM10_ENST00000304538.6_Splice_Site|PRDM10_ENST00000358825.5_Splice_Site|PRDM10_ENST00000526082.1_Splice_Site	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCATAAATTACCTTGAGGTGA	0.517																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.e6+1		PR domain containing 10							92.0	91.0	92.0					11																	129814665		2201	4297	6498	SO:0001630	splice_region_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129814665C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.762+1G>T	11.37:g.129814665C>A			Somatic				PRDM10_ENST00000423662.2_Splice_Site|PRDM10_ENST00000304538.6_Splice_Site|PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000526082.1_Splice_Site		NM_020228.2	NP_064613.2	WXS	Illumina GAIIx	Phase_I	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	6	994	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)						B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Splice_Site	SNP	ENST00000360871.3	37		CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305422	0.81247	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1047	0.93290	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM10	129319875	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.410000	0.80065	2.585000	0.87301	0.644000	0.83932	.		0.517	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	Intron	5	300	1	0	5.9392e-07	1	6.33936e-07	5	300				
PAPOLB	56903	broad.mit.edu	37	7	4900199	4900199	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:4900199C>T	ENST00000404991.1	-	1	1426	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	414					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTCACATGTGCCAGTGTAATA	0.418																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1240-1242)Gca>Aca		poly(A) polymerase beta (testis specific)							223.0	237.0	233.0					7																	4900199		2203	4300	6503	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900199C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1240G>A	7.37:g.4900199C>T	ENSP00000384700:p.Ala414Thr		Somatic				RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.A414T	NM_020144.4	NP_064529.4	WXS	Illumina GAIIx	Phase_I	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1426	-		Ovarian(82;0.0175)	414					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1240G>A		.	.	.	.	.	.	.	.	.	.	C	24.5	4.541606	0.85917	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	D	0.85401	0.5688	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88388	0.3006	8	0.87932	D	0	.	15.946	0.79792	0.0:1.0:0.0:0.0	.	415	A4D1Z6	.	T	414	.	ENSP00000384700:A414T	A	-	1	0	PAPOLB	4866725	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	GCA		0.418	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		5	815	0	0	0	1	0	5	815				
NAA10	8260	broad.mit.edu	37	X	153197563	153197563	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:153197563C>T	ENST00000464845.1	-	6	665	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	NAA10_ENST00000370015.4_Missense_Mutation_p.R116Q|NAA10_ENST00000393712.3_Missense_Mutation_p.R116Q|NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370009.1_Intron	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	116	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CAGGGCGGCCCGGTTACTGCA	0.592																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(346-348)cGg>cAg		N(alpha)-acetyltransferase 10, NatA catalytic subunit							126.0	110.0	116.0					X																	153197563		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153197563C>T	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.347G>A	X.37:g.153197563C>T	ENSP00000417763:p.Arg116Gln		Somatic				NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370009.1_Intron|NAA10_ENST00000370015.4_Missense_Mutation_p.R116Q|NAA10_ENST00000393712.3_Missense_Mutation_p.R116Q	p.R116Q	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	WXS	Illumina GAIIx	Phase_I	P41227	NAA10_HUMAN			6	665	-			116			N-acetyltransferase.		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.347G>A	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107341	0.77096	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000432089	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.78	4.78	0.61160	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	L	0.41415	1.275	0.80722	D	1	B	0.23540	0.087	B	0.34652	0.187	T	0.06481	-1.0824	10	0.49607	T	0.09	-13.1867	15.7093	0.77612	0.0:1.0:0.0:0.0	.	116	P41227	NAA10_HUMAN	Q	116;116;116;110	ENSP00000417763:R116Q;ENSP00000359032:R116Q;ENSP00000377315:R116Q;ENSP00000413668:R110Q	ENSP00000359032:R116Q	R	-	2	0	NAA10	152850757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.322000	0.79097	1.951000	0.56629	0.525000	0.51046	CGG		0.592	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		3	72	0	0	0	1	0	3	72				
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.e4-1		zinc finger, matrin-type 2							166.0	152.0	157.0					5																	140083501		2203	4300	6503	SO:0001630	splice_region_variant	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140083501A>T	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.237-1A>T	5.37:g.140083501A>T			Somatic						NM_144723.1	NP_653324.1	WXS	Illumina GAIIx	Phase_I	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	363	+									Splice_Site	SNP	ENST00000274712.3	37		CCDS4239.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787461	0.90367	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0025	0.80306	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMAT2	140063685	1.000000	0.71417	0.698000	0.30274	0.851000	0.48451	8.932000	0.92897	2.237000	0.73441	0.459000	0.35465	.		0.368	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723	Intron	7	474	0	0	0	1	0	7	474				
TROAP	10024	broad.mit.edu	37	12	49724304	49724304	+	Missense_Mutation	SNP	G	G	A	rs201530406		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:49724304G>A	ENST00000257909.3	+	13	1752	c.1676G>A	c.(1675-1677)tGc>tAc	p.C559Y	TROAP_ENST00000551245.1_Missense_Mutation_p.C559Y|TROAP_ENST00000547923.1_Missense_Mutation_p.C267Y	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	559	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTGCTGTAGGAGT	0.597																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1675-1677)tGc>tAc		trophinin associated protein							63.0	62.0	63.0					12																	49724304		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724304G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1676G>A	12.37:g.49724304G>A	ENSP00000257909:p.Cys559Tyr		Somatic				TROAP_ENST00000547923.1_Missense_Mutation_p.C267Y|TROAP_ENST00000257909.3_Missense_Mutation_p.C559Y	p.C559Y			WXS	Illumina GAIIx	Phase_I	Q12815	TROAP_HUMAN			13	1787	+			559			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1676G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825657	0.32237	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-2.09	0.07232	.	.	.	.	.	T	0.18173	0.0436	N	0.08118	0	0.09310	N	1	B;B;P	0.35656	0.032;0.013;0.514	B;B;B	0.38056	0.041;0.041;0.264	T	0.23226	-1.0194	8	0.54805	T	0.06	.	6.6643	0.23032	0.0:0.2719:0.3165:0.4116	.	559;267;559	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	Y	559;559;267	.	ENSP00000257909:C559Y	C	+	2	0	TROAP	48010571	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	-0.260000	0.08708	-0.263000	0.09378	-0.802000	0.03209	TGC		0.597	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		6	229	0	0	0	1	0	6	229				
TGFBI	7045	broad.mit.edu	37	5	135394856	135394856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:135394856C>A	ENST00000442011.2	+	13	1917	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	TGFBI_ENST00000508076.1_5'UTR|TGFBI_ENST00000305126.8_Missense_Mutation_p.L586M	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	586	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCGGGGCCCTGGTGCGGCT	0.532																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1756-1758)Ctg>Atg		transforming growth factor, beta-induced, 68kDa							36.0	36.0	36.0					5																	135394856		1938	4147	6085	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135394856C>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1756C>A	5.37:g.135394856C>A	ENSP00000416330:p.Leu586Met		Somatic				TGFBI_ENST00000305126.8_Missense_Mutation_p.L586M|TGFBI_ENST00000508076.1_5'UTR	p.L586M	NM_000358.2	NP_000349.1	WXS	Illumina GAIIx	Phase_I	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		13	1917	+			586			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1756C>A	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119902|4.119902	0.77323|0.77323	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000514554	D;D|.	0.91996|.	-2.95;-2.95|.	5.52|5.52	5.52|5.52	0.82312|0.82312	FAS1 domain (5);|.	0.056507|.	0.64402|.	D|.	0.000001|.	T|T	0.61999|0.61999	0.2392|0.2392	L|L	0.43701|0.43701	1.375|1.375	0.47123|0.47123	D|D	0.999328|0.999328	P;P|.	0.48764|.	0.859;0.915|.	P;P|.	0.61874|.	0.895;0.849|.	T|T	0.56649|0.56649	-0.7944|-0.7944	10|5	0.59425|.	D|.	0.04|.	-5.0276|-5.0276	16.1|16.1	0.81166|0.81166	0.0:0.8662:0.1338:0.0|0.0:0.8662:0.1338:0.0	.|.	319;586|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	M|H	586;319;586|303	ENSP00000416330:L586M;ENSP00000306306:L586M|.	ENSP00000306306:L586M|.	L|P	+|+	1|2	2|0	TGFBI|TGFBI	135422755|135422755	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.657000|2.657000	0.46724|0.46724	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.532	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	49	1	0	2.61681e-11	1	2.86422e-11	6	49				
MLLT4	4301	broad.mit.edu	37	6	168289893	168289893	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:168289893A>T	ENST00000447894.2	+	7	897		c.e7-1		MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGTTTTTTTAGGTTATGCTT	0.328			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e7-1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							83.0	86.0	85.0					6																	168289893		2203	4296	6499	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168289893A>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.898-1A>T	6.37:g.168289893A>T			Somatic				MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	7	1039	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	A	12.90	2.075334	0.36662	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3734	0.74584	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168032742	1.000000	0.71417	0.720000	0.30636	0.289000	0.27227	6.951000	0.75983	2.028000	0.59812	0.533000	0.62120	.		0.328	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	4	106	0	0	0	1	0	4	106				
RLF	6018	broad.mit.edu	37	1	40702557	40702557	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:40702557A>T	ENST00000372771.4	+	8	2210	c.2183A>T	c.(2182-2184)cAc>cTc	p.H728L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	728					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCTGCTTTTCACCTTCGAGAG	0.383																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(2182-2184)cAc>cTc		rearranged L-myc fusion							134.0	135.0	135.0					1																	40702557		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40702557A>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2183A>T	1.37:g.40702557A>T	ENSP00000361857:p.His728Leu		Somatic					p.H728L	NM_012421.3	NP_036553.2	WXS	Illumina GAIIx	Phase_I	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	2210	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	728					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.2183A>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.468516	0.63625	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.39406	1.08	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.64266	-0.6448	10	0.72032	D	0.01	-10.668	16.6438	0.85155	1.0:0.0:0.0:0.0	.	421;728	F5H2M5;Q13129	.;RLF_HUMAN	L	728;421	ENSP00000361857:H728L	ENSP00000361857:H728L	H	+	2	0	RLF	40475144	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.896000	0.92521	2.333000	0.79357	0.533000	0.62120	CAC		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		4	272	0	0	0	1	0	4	272				
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Splice_Site	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e11-1		zinc finger protein 512							154.0	145.0	148.0					2																	27838033		2203	4300	6503	SO:0001630	splice_region_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27838033A>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1132-1A>T	2.37:g.27838033A>T			Somatic				RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96ME7	ZN512_HUMAN			11	1214	+	Acute lymphoblastic leukemia(172;0.155)							B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Splice_Site	SNP	ENST00000355467.4	37		CCDS1758.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512015	0.85389	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2369	0.59974	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF512	27691537	1.000000	0.71417	0.959000	0.39883	0.942000	0.58702	7.773000	0.85462	2.136000	0.66102	0.533000	0.62120	.		0.363	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	Intron	4	124	0	0	0	1	0	4	124				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T			Somatic				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA				WXS	Illumina GAIIx	Phase_I					0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		6	105	0	0	0	1	0	6	105				
ZNF749	388567	broad.mit.edu	37	19	57956103	57956103	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	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)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1585-1587)caT>caC		zinc finger protein 749							97.0	93.0	94.0					19																	57956103		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956103T>C	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1587T>C	19.37:g.57956103T>C			Somatic				AC004076.9_ENST00000596831.1_Intron	p.H529H	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1837	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	529						Silent	SNP	ENST00000334181.4	37	c.1587T>C	CCDS33132.2																																																																																				0.453	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		4	619	0	0	0	1	0	4	619				
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:183495733A>T	ENST00000347615.2	+	5	434	c.315A>T	c.(313-315)ttA>ttT	p.L105F	SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000367537.3_Missense_Mutation_p.L134F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					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						TCTTTTAGTTATTACAAGAAC	0.348																																						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.(400-402)ttA>ttT		SMG7 nonsense mediated mRNA decay factor							78.0	83.0	81.0					1																	183495733		2203	4300	6503	SO:0001583	missense	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.chr1:183495733A>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.315A>T	1.37:g.183495733A>T	ENSP00000340766:p.Leu105Phe		Somatic				SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F	p.L134F			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	597	+			105					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.402A>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209266	0.58343	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.61	3.26	0.37387	Telomerase activating protein Est1 (1);	0.000000	0.64402	D	0.000003	T	0.38983	0.1061	M	0.70275	2.135	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.994;1.0;1.0;0.999;1.0;1.0	T	0.14144	-1.0483	10	0.51188	T	0.08	-6.5871	5.7363	0.18069	0.7332:0.0:0.1402:0.1266	.	63;134;63;105;105;105	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	F	63;134;63;63;105;105;105	ENSP00000407629:L63F;ENSP00000356507:L134F;ENSP00000426915:L63F;ENSP00000388390:L63F;ENSP00000340766:L105F;ENSP00000425133:L105F;ENSP00000421358:L105F	ENSP00000340766:L105F	L	+	3	2	SMG7	181762356	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.431000	0.44775	1.056000	0.40484	0.533000	0.62120	TTA		0.348	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	136	0	0	0	1	0	4	136				
KIAA0355	9710	broad.mit.edu	37	19	34791500	34791500	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:34791500T>C	ENST00000299505.6	+	2	995	c.122T>C	c.(121-123)cTg>cCg	p.L41P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	41										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCCGAGCACTGAGTGCTCCC	0.637																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(121-123)cTg>cCg		KIAA0355							42.0	36.0	38.0					19																	34791500		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791500T>C		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.122T>C	19.37:g.34791500T>C	ENSP00000299505:p.Leu41Pro		Somatic					p.L41P	NM_014686.3	NP_055501.2	WXS	Illumina GAIIx	Phase_I	O15063	K0355_HUMAN			2	995	+	Esophageal squamous(110;0.162)		41					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.122T>C	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.772845	0.69992	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.65502	0.2697	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70167	-0.4946	9	0.87932	D	0	.	15.4502	0.75268	0.0:0.0:0.0:1.0	.	41	O15063	K0355_HUMAN	P	41	.	ENSP00000299505:L41P	L	+	2	0	KIAA0355	39483340	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.648000	0.83479	2.107000	0.64212	0.459000	0.35465	CTG		0.637	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		8	25	0	0	0	1	0	8	25				
DIO2	1734	broad.mit.edu	37	14	80669073	80669073	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:80669073T>A	ENST00000557010.1	-	4	1166	c.781A>T	c.(781-783)Aat>Tat	p.N261Y	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.N261Y|DIO2_ENST00000555750.1_Missense_Mutation_p.N297Y|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	261					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTGCTGAAATTCTTCTCCAGC	0.383																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(781-783)Aat>Tat		deiodinase, iodothyronine, type II							58.0	55.0	56.0					14																	80669073		1840	4094	5934	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669073T>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.781A>T	14.37:g.80669073T>A	ENSP00000451419:p.Asn261Tyr		Somatic				DIO2_ENST00000438257.4_Missense_Mutation_p.N261Y|DIO2_ENST00000555750.1_Missense_Mutation_p.N297Y|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR	p.N261Y	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	WXS	Illumina GAIIx	Phase_I	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	1166	-			261					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.781A>T	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	T	8.534	0.871712	0.17322	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.27720	1.65;1.65;1.65	5.47	5.47	0.80525	.	0.439325	0.21086	N	0.080406	T	0.34366	0.0895	N	0.22421	0.69	0.80722	D	1	D;D;D	0.71674	0.986;0.989;0.998	P;P;D	0.63381	0.814;0.883;0.914	T	0.03922	-1.0992	10	0.02654	T	1	.	15.837	0.78805	0.0:0.0:0.0:1.0	.	297;261;297	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	Y	261;261;297	ENSP00000405854:N261Y;ENSP00000451419:N261Y;ENSP00000450980:N297Y	ENSP00000405854:N261Y	N	-	1	0	DIO2	79738826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.569000	0.67391	2.199000	0.70637	0.528000	0.53228	AAT		0.383	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			10	5	0	0	0	1	0	10	5				
TTLL4	9654	broad.mit.edu	37	2	219603432	219603432	+	Missense_Mutation	SNP	G	G	A	rs138326187	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:219603432G>A	ENST00000392102.1	+	3	1373	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T|TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	345					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAATTGACCGCAAGAGGCTT	0.542																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1033-1035)Gca>Aca		tubulin tyrosine ligase-like family, member 4							100.0	97.0	98.0					2																	219603432		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603432G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1033G>A	2.37:g.219603432G>A	ENSP00000375951:p.Ala345Thr		Somatic				TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T	p.A345T	NM_014640.4	NP_055455.3	WXS	Illumina GAIIx	Phase_I	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1373	+		Renal(207;0.0915)	345					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1033G>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	G	4.815	0.151619	0.09185	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04970	3.74;3.99;3.52;3.99	4.57	0.74	0.18330	.	0.607687	0.14727	N	0.301996	T	0.03263	0.0095	L	0.29908	0.895	0.09310	N	1	P;B;P	0.44006	0.824;0.016;0.824	B;B;B	0.30646	0.086;0.004;0.118	T	0.43196	-0.9406	10	0.41790	T	0.15	.	4.2768	0.10813	0.3392:0.0:0.5099:0.1509	.	180;345;345	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	T	180;345;345;345	ENSP00000393332:A180T;ENSP00000375951:A345T;ENSP00000396555:A345T;ENSP00000258398:A345T	ENSP00000258398:A345T	A	+	1	0	TTLL4	219311676	0.408000	0.25360	0.177000	0.23020	0.013000	0.08279	1.559000	0.36320	-0.047000	0.13423	-1.114000	0.02060	GCA		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		5	391	0	0	0	1	0	5	391				
CNTROB	116840	broad.mit.edu	37	17	7851991	7851991	+	Intron	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:7851991G>A	ENST00000563694.1	+	17	3438				CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Intron|CNTROB_ENST00000380262.3_Missense_Mutation_p.G856E	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGATTATGGGGAGTGGAGT	0.522																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2566-2568)gGg>gAg		centrobin, centrosomal BRCA2 interacting protein							100.0	100.0	100.0					17																	7851991		2203	4300	6503	SO:0001627	intron_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7851991G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2513+54G>A	17.37:g.7851991G>A			Somatic				CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Intron|CNTROB_ENST00000563694.1_Intron	p.G856E	NM_001037144.5	NP_001032221.1	WXS	Illumina GAIIx	Phase_I	Q8N137	CNTRB_HUMAN			17	3492	+		Prostate(122;0.173)	836			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.2567G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254524	0.22965	.	.	ENSG00000170037	ENST00000380262	T	0.40476	1.03	4.52	-5.55	0.02536	.	0.795454	0.10695	N	0.644713	T	0.23649	0.0572	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.21552	-1.0242	9	0.66056	D	0.02	-1.3846	2.9632	0.05899	0.5332:0.1266:0.2114:0.1287	.	856	Q8N137-2	.	E	856	ENSP00000369614:G856E	ENSP00000369614:G856E	G	+	2	0	CNTROB	7792716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.133000	0.03232	-1.087000	0.03081	-2.295000	0.00263	GGG		0.522	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		29	223	0	0	0	1	0	29	223				
MYO15A	51168	broad.mit.edu	37	17	18062259	18062259	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:18062259C>T	ENST00000205890.5	+	53	9442	c.9104C>T	c.(9103-9105)tCc>tTc	p.S3035F	MYO15A_ENST00000418233.3_Missense_Mutation_p.S299F|MYO15A_ENST00000451725.2_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3035	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCTGAAATCCAAGGAGCCT	0.557																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9103-9105)tCc>tTc		myosin XVA							66.0	73.0	71.0					17																	18062259		1981	4166	6147	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18062259C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9104C>T	17.37:g.18062259C>T	ENSP00000205890:p.Ser3035Phe		Somatic				MYO15A_ENST00000418233.3_Missense_Mutation_p.S299F	p.S3035F	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			53	9442	+	all_neural(463;0.228)		3035			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9104C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135155	0.37728	.	.	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89050	-2.46	4.74	3.74	0.42951	.	.	.	.	.	D	0.88097	0.6345	M	0.61703	1.905	0.80722	D	1	P;P;P	0.48998	0.918;0.604;0.736	P;B;B	0.45167	0.472;0.24;0.28	D	0.88129	0.2837	9	0.72032	D	0.01	.	12.0808	0.53669	0.0:0.8257:0.1743:0.0	.	24;299;3035	B4DLV9;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	F	3035;24	ENSP00000205890:S3035F	ENSP00000205890:S3035F	S	+	2	0	MYO15A	18002984	0.376000	0.25098	0.986000	0.45419	0.947000	0.59692	0.481000	0.22260	1.084000	0.41184	0.462000	0.41574	TCC		0.557	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		17	71	0	0	0	1	0	17	71				
FLG2	388698	broad.mit.edu	37	1	152325231	152325231	+	Silent	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:152325231A>T	ENST00000388718.5	-	3	5103	c.5031T>A	c.(5029-5031)gcT>gcA	p.A1677A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1677					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGAGATCCAGCTTGACCAT	0.488																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5029-5031)gcT>gcA		filaggrin family member 2							451.0	391.0	412.0					1																	152325231		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325231A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5031T>A	1.37:g.152325231A>T			Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.A1677A	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5103	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1677					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5031T>A	CCDS30861.1																																																																																				0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1088	0	0	0	1	0	8	1088				
SERPINH1	871	broad.mit.edu	37	11	75280027	75280027	+	Silent	SNP	C	C	T	rs369937589		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:75280027C>T	ENST00000524558.1	+	4	2200	c.765C>T	c.(763-765)atC>atT	p.I255I	SERPINH1_ENST00000533603.1_Silent_p.I255I|SERPINH1_ENST00000530284.1_Silent_p.I255I|SERPINH1_ENST00000358171.3_Silent_p.I255I|SERPINH1_ENST00000525876.1_Silent_p.I38I			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	255				I -> L (in Ref. 1; CAA43795). {ECO:0000305}.	chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					AGCTGCAAATCGTGGAGATGC	0.582																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(763-765)atC>atT		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)		C	,	0,4400		0,0,2200	105.0	96.0	99.0		765,765	-10.7	0.0	11		99	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	SERPINH1	NM_001207014.1,NM_001235.3	,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,	255/419,255/419	75280027	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75280027C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.765C>T	11.37:g.75280027C>T			Somatic				SERPINH1_ENST00000525876.1_Silent_p.I38I|SERPINH1_ENST00000358171.3_Silent_p.I255I|SERPINH1_ENST00000533603.1_Silent_p.I255I|SERPINH1_ENST00000530284.1_Silent_p.I255I	p.I255I			WXS	Illumina GAIIx	Phase_I	P50454	SERPH_HUMAN			4	2200	+	Ovarian(111;0.11)		255	I -> L (in Ref. 1; CAA43795).				B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	ENST00000524558.1	37	c.765C>T	CCDS8239.1																																																																																				0.582	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		35	109	0	0	0	1	0	35	109				
KRT39	390792	broad.mit.edu	37	17	39122866	39122866	+	Silent	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39122866A>T	ENST00000355612.2	-	1	278	c.243T>A	c.(241-243)tcT>tcA	p.S81S	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	81	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGTCATCCAGAGAAAAACGGG	0.507																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(241-243)tcT>tcA		keratin 39							197.0	197.0	197.0					17																	39122866		2203	4296	6499	SO:0001819	synonymous_variant	390792					intermediate filament	structural molecule activity	g.chr17:39122866A>T	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.243T>A	17.37:g.39122866A>T			Somatic				AC004231.2_ENST00000418393.1_RNA	p.S81S	NM_213656.3	NP_998821.3	WXS	Illumina GAIIx	Phase_I	Q6A163	K1C39_HUMAN			1	278	-		Breast(137;0.00043)|Ovarian(249;0.15)	81			Head.		B2RXK6|Q6IFU6	Silent	SNP	ENST00000355612.2	37	c.243T>A	CCDS11382.1																																																																																				0.507	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		6	670	0	0	0	1	0	6	670				
ADCK2	90956	broad.mit.edu	37	7	140374554	140374554	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:140374554A>G	ENST00000072869.4	+	2	1255	c.1077A>G	c.(1075-1077)caA>caG	p.Q359Q	ADCK2_ENST00000476491.1_Silent_p.Q359Q	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	359	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGATGGTCCAACAGGTGAGTT	0.448																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1075-1077)caA>caG		aarF domain containing kinase 2							115.0	100.0	105.0					7																	140374554		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140374554A>G	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1077A>G	7.37:g.140374554A>G			Somatic				ADCK2_ENST00000476491.1_Silent_p.Q359Q	p.Q359Q	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			2	1255	+	Melanoma(164;0.00956)		359			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1077A>G	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434866	0.25813	.	.	ENSG00000133597	ENST00000483369	.	.	.	5.49	-1.64	0.08318	.	.	.	.	.	T	0.43144	0.1234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26430	-1.0103	4	.	.	.	-6.6129	4.1638	0.10296	0.2672:0.1256:0.4741:0.1331	.	.	.	.	A	197	.	.	T	+	1	0	ADCK2	140021023	0.993000	0.37304	0.986000	0.45419	0.984000	0.73092	0.477000	0.22196	-0.444000	0.07170	0.533000	0.62120	ACA		0.448	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		5	38	0	0	0	1	0	5	38				
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	Silent	SNP	T	T	G	rs201524640		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:11420862T>G	ENST00000279573.7	-	3	456	c.321A>C	c.(319-321)ggA>ggC	p.G107G	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Silent_p.G107G|PRB3_ENST00000538488.1_Silent_p.G107G			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	107	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3																																				SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420862T>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.321A>C	12.37:g.11420862T>G			Somatic				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA		NM_006249.4	NP_006240.4	WXS	Illumina GAIIx	Phase_I	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	358	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		10	1220	0	0	0	1	0	10	1220				
ACSM1	116285	broad.mit.edu	37	16	20648507	20648507	+	Intron	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20648507G>A	ENST00000307493.4	-	8	1265				ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000219151.4_Silent_p.T35T	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGGGTCAGCGGTGTTCATGC	0.488																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(103-105)acC>acT		acyl-CoA synthetase medium-chain family member 1							180.0	168.0	171.0					16																	20648507		876	1991	2867	SO:0001627	intron_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20648507G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1197+185C>T	16.37:g.20648507G>A			Somatic				ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron	p.T35T			WXS	Illumina GAIIx	Phase_I	Q08AH1	ACSM1_HUMAN			9	1315	-			399					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.105C>T	CCDS10587.1																																																																																				0.488	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		290	452	0	0	0	1	0	290	452				
SEC31A	22872	broad.mit.edu	37	4	83788105	83788105	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:83788105T>C	ENST00000395310.2	-	10	1235	c.1053A>G	c.(1051-1053)tcA>tcG	p.S351S	SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Silent_p.S351S|SEC31A_ENST00000432794.1_Silent_p.S351S|SEC31A_ENST00000500777.2_Silent_p.S351S|SEC31A_ENST00000355196.2_Silent_p.S351S|SEC31A_ENST00000508502.1_Silent_p.S351S|SEC31A_ENST00000513858.1_Silent_p.S351S|SEC31A_ENST00000448323.1_Silent_p.S351S|SEC31A_ENST00000508479.1_Silent_p.S351S|SEC31A_ENST00000348405.4_Silent_p.S351S|SEC31A_ENST00000443462.2_Silent_p.S346S|SEC31A_ENST00000326950.5_Silent_p.S351S|SEC31A_ENST00000505984.1_Silent_p.S351S|SEC31A_ENST00000505472.1_Silent_p.S351S|SEC31A_ENST00000264405.5_Silent_p.S123S|SEC31A_ENST00000509142.1_Silent_p.S351S	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	351	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCAAAAGATGATGAAAGCT	0.378																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1051-1053)tcA>tcG		SEC31 homolog A (S. cerevisiae)							90.0	93.0	92.0					4																	83788105		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83788105T>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1053A>G	4.37:g.83788105T>C			Somatic				SEC31A_ENST00000348405.4_Silent_p.S351S|SEC31A_ENST00000326950.5_Silent_p.S351S|SEC31A_ENST00000508479.1_Silent_p.S351S|SEC31A_ENST00000311785.7_Silent_p.S351S|SEC31A_ENST00000264405.5_Silent_p.S123S|SEC31A_ENST00000505984.1_Silent_p.S351S|SEC31A_ENST00000355196.2_Silent_p.S351S|SEC31A_ENST00000513858.1_Silent_p.S351S|SEC31A_ENST00000443462.2_Silent_p.S346S|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Silent_p.S351S|SEC31A_ENST00000500777.2_Silent_p.S351S|SEC31A_ENST00000448323.1_Silent_p.S351S|SEC31A_ENST00000508502.1_Silent_p.S351S|SEC31A_ENST00000509142.1_Silent_p.S351S|SEC31A_ENST00000395310.2_Silent_p.S351S	p.S351S			WXS	Illumina GAIIx	Phase_I	O94979	SC31A_HUMAN			10	1216	-		Hepatocellular(203;0.114)	351			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.1053A>G	CCDS3596.1																																																																																				0.378	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		40	88	0	0	0	1	0	40	88				
PTPRJ	5795	broad.mit.edu	37	11	48166672	48166672	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:48166672T>A	ENST00000418331.2	+	14	3259	c.2907T>A	c.(2905-2907)gaT>gaA	p.D969E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	969					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCCAGGATCCAGGTAGGG	0.532																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2905-2907)gaT>gaA		protein tyrosine phosphatase, receptor type, J							138.0	121.0	127.0					11																	48166672		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48166672T>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2907T>A	11.37:g.48166672T>A	ENSP00000400010:p.Asp969Glu		Somatic					p.D969E	NM_002843.3	NP_002834.3	WXS	Illumina GAIIx	Phase_I	Q12913	PTPRJ_HUMAN			14	3259	+			969					Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.2907T>A	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453487	0.84209	.	.	ENSG00000149177	ENST00000418331	T	0.12879	2.64	5.41	1.72	0.24424	.	.	.	.	.	T	0.20577	0.0495	L	0.39245	1.2	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.01488	-1.1342	9	0.36615	T	0.2	.	7.2671	0.26235	0.0:0.2586:0.0:0.7414	.	969	Q12913	PTPRJ_HUMAN	E	969	ENSP00000400010:D969E	ENSP00000400010:D969E	D	+	3	2	PTPRJ	48123248	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	0.402000	0.20965	0.035000	0.15519	0.533000	0.62120	GAT		0.532	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			4	441	0	0	0	1	0	4	441				
ABCA4	24	broad.mit.edu	37	1	94473208	94473208	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:94473208G>A	ENST00000370225.3	-	43	6073	c.5987C>T	c.(5986-5988)gCc>gTc	p.A1996V	ABCA4_ENST00000536513.1_Missense_Mutation_p.A266V|ABCA4_ENST00000535881.1_Missense_Mutation_p.A115V|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1996	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCTACGGTGGCATCCCCTGA	0.537																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(5986-5988)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 4							165.0	141.0	149.0					1																	94473208		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94473208G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5987C>T	1.37:g.94473208G>A	ENSP00000359245:p.Ala1996Val		Somatic				ABCA4_ENST00000535881.1_Missense_Mutation_p.A115V|ABCA4_ENST00000536513.1_Missense_Mutation_p.A266V|ABCA4_ENST00000465352.1_5'UTR	p.A1996V	NM_000350.2	NP_000341.2	WXS	Illumina GAIIx	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	43	6073	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1996			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.5987C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732778	0.89482	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.91894	-2.93;-2.93;-2.93	4.74	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	N	0.11818	0.18	0.80722	D	1	P;D	0.89917	0.741;1.0	B;D	0.79108	0.338;0.992	D	0.93383	0.6745	10	0.87932	D	0	.	17.9329	0.89004	0.0:0.0:1.0:0.0	.	115;1996	B4DX12;P78363	.;ABCA4_HUMAN	V	788;1996;266;115	ENSP00000359245:A1996V;ENSP00000439707:A266V;ENSP00000443203:A115V	ENSP00000359245:A1996V	A	-	2	0	ABCA4	94245796	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	9.583000	0.98217	2.452000	0.82932	0.650000	0.86243	GCC		0.537	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		4	202	0	0	0	1	0	4	202				
CCDC88A	55704	broad.mit.edu	37	2	55544426	55544426	+	Missense_Mutation	SNP	A	A	T	rs187623226	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:55544426A>T	ENST00000436346.1	-	21	4503	c.3662T>A	c.(3661-3663)gTa>gAa	p.V1221E	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000366287.4_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.V1220E|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1221E|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1220E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1221					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCCTGTTCTACTTTGAGCAT	0.294																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3661-3663)gTa>gAa		coiled-coil domain containing 88A							71.0	72.0	72.0					2																	55544426		2202	4290	6492	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55544426A>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3662T>A	2.37:g.55544426A>T	ENSP00000410608:p.Val1221Glu		Somatic				AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.V1220E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1221E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1220E	p.V1221E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	WXS	Illumina GAIIx	Phase_I	Q3V6T2	GRDN_HUMAN			21	4503	-			1221					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.3662T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.862|1.862	-0.462447|-0.462447	0.04508|0.04508	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;T;T;T	.|0.38887	.|2.67;2.88;2.9;1.11;2.67;1.68	5.62|5.62	4.43|4.43	0.53597|0.53597	.|.	.|0.781055	.|0.10666	.|U	.|0.648128	T|T	0.15782|0.15782	0.0380|0.0380	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.001;0.0;0.0;0.0;0.001	T|T	0.21008|0.21008	-1.0258|-1.0258	5|10	.|0.05525	.|T	.|0.97	-5.8884|-5.8884	3.7727|3.7727	0.08647|0.08647	0.6444:0.0:0.1991:0.1565|0.6444:0.0:0.1991:0.1565	.|.	.|1220;1221;1166;1221;1220;1220	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	R|E	201|1220;1221;1221;266;1220;396	.|ENSP00000338728:V1220E;ENSP00000263630:V1221E;ENSP00000410608:V1221E;ENSP00000390012:V266E;ENSP00000404431:V1220E;ENSP00000405080:V396E	.|ENSP00000263630:V1221E	S|V	-|-	3|2	2|0	CCDC88A|CCDC88A	55397930|55397930	0.049000|0.049000	0.20398|0.20398	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.455000|0.455000	0.21843|0.21843	1.015000|1.015000	0.39444|0.39444	0.528000|0.528000	0.53228|0.53228	AGT|GTA		0.294	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		3	27	0	0	0	1	0	3	27				
TCEAL8	90843	broad.mit.edu	37	X	102508834	102508834	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:102508834T>C	ENST00000372685.3	-	3	310	c.74A>G	c.(73-75)gAg>gGg	p.E25G	TCEAL8_ENST00000360000.4_Missense_Mutation_p.E25G	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|lung(1)|ovary(1)	4						TGGTACATCCTCCAAAGGGCG	0.478																																						ENST00000372685.3																			0				kidney(2)|lung(1)|ovary(1)	4						c.(73-75)gAg>gGg		transcription elongation factor A (SII)-like 8							182.0	161.0	168.0					X																	102508834		2203	4300	6503	SO:0001583	missense	90843				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102508834T>C	AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.74A>G	X.37:g.102508834T>C	ENSP00000361770:p.Glu25Gly		Somatic				TCEAL8_ENST00000360000.4_Missense_Mutation_p.E25G	p.E25G	NM_153333.2	NP_699164.1	WXS	Illumina GAIIx	Phase_I	Q8IYN2	TCAL8_HUMAN			3	310	-			25						Missense_Mutation	SNP	ENST00000372685.3	37	c.74A>G	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295377	0.23564	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	T;T	0.52983	0.64;0.64	4.52	0.725	0.18242	.	0.840019	0.10254	N	0.696863	T	0.28632	0.0709	N	0.21194	0.64	0.09310	N	1	B	0.20164	0.042	B	0.22880	0.042	T	0.25572	-1.0128	10	0.21014	T	0.42	-3.5807	4.5406	0.12056	0.0:0.1078:0.395:0.4972	.	25	Q8IYN2	TCAL8_HUMAN	G	25	ENSP00000353093:E25G;ENSP00000361770:E25G	ENSP00000353093:E25G	E	-	2	0	TCEAL8	102395490	0.019000	0.18553	0.005000	0.12908	0.930000	0.56654	-0.024000	0.12435	0.021000	0.15133	0.486000	0.48141	GAG		0.478	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		5	747	0	0	0	1	0	5	747				
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_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	14	248	0	0	0	1	0	14	248				
STIM1	6786	broad.mit.edu	37	11	4112748	4112748	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:4112748C>A	ENST00000300737.4	+	12	2347	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	STIM1_ENST00000533977.1_Missense_Mutation_p.A420D|STIM1_ENST00000527651.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	593					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CTGGACAAGGCCCACAGCCTG	0.622																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1777-1779)gCc>gAc		stromal interaction molecule 1							72.0	78.0	76.0					11																	4112748		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4112748C>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1778C>A	11.37:g.4112748C>A	ENSP00000300737:p.Ala593Asp		Somatic				STIM1_ENST00000527651.1_3'UTR|STIM1_ENST00000533977.1_Missense_Mutation_p.A420D	p.A593D	NM_003156.3	NP_003147.2	WXS	Illumina GAIIx	Phase_I	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	12	2347	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	593					E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.1778C>A	CCDS7749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.332864|3.332864	0.60853|0.60853	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000300737;ENST00000533977|ENST00000526596	T;T|.	0.68181|.	-0.31;-0.31|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.191055|.	0.44902|.	D|.	0.000414|.	T|T	0.53818|0.53818	0.1820|0.1820	N|N	0.22421|0.22421	0.69|0.69	0.52099|0.52099	D|D	0.999948|0.999948	B|.	0.29432|.	0.244|.	B|.	0.29785|.	0.107|.	T|T	0.48281|0.48281	-0.9049|-0.9049	10|5	0.49607|.	T|.	0.09|.	-29.0706|-29.0706	16.9105|16.9105	0.86139|0.86139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	593|.	Q13586|.	STIM1_HUMAN|.	D|T	593;420|355	ENSP00000300737:A593D;ENSP00000434767:A420D|.	ENSP00000300737:A593D|.	A|P	+|+	2|1	0|0	STIM1|STIM1	4069324|4069324	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.776000|3.776000	0.55356|0.55356	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.622	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		7	168	1	0	0.248553	1	0.248553	7	168				
KLF12	11278	broad.mit.edu	37	13	74420129	74420129	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:74420129G>T	ENST00000377669.2	-	3	531	c.505C>A	c.(505-507)Cct>Act	p.P169T	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P169T	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	169					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGACTTGAAGGCGGTACGGGA	0.512																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(505-507)Cct>Act		Kruppel-like factor 12							103.0	88.0	93.0					13																	74420129		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420129G>T	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.505C>A	13.37:g.74420129G>T	ENSP00000366897:p.Pro169Thr		Somatic				KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P169T	p.P169T	NM_007249.4	NP_009180.3	WXS	Illumina GAIIx	Phase_I	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	531	-		Prostate(6;0.00217)|Breast(118;0.0838)	169					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.505C>A	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605734	0.87157	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01379	4.96;4.96	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.32640	-0.9899	10	0.38643	T	0.18	.	19.5289	0.95219	0.0:0.0:1.0:0.0	.	169	Q9Y4X4	KLF12_HUMAN	T	169	ENSP00000366897:P169T;ENSP00000366894:P169T	ENSP00000344057:P169T	P	-	1	0	KLF12	73318130	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.574000	0.60900	2.865000	0.98341	0.655000	0.94253	CCT		0.512	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		14	71	1	0	7.05477e-17	1	7.74994e-17	14	71				
DNAJC2	27000	broad.mit.edu	37	7	102968107	102968107	+	Silent	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:102968107A>T	ENST00000379263.3	-	4	676	c.426T>A	c.(424-426)acT>acA	p.T142T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.T142T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	142	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCTTACCTTTAGTTATGCAAG	0.333																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(424-426)acT>acA		DnaJ (Hsp40) homolog, subfamily C, member 2							130.0	120.0	123.0					7																	102968107		1819	4080	5899	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102968107A>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.426T>A	7.37:g.102968107A>T			Somatic				PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.T142T	p.T142T	NM_014377.1	NP_055192.1	WXS	Illumina GAIIx	Phase_I	Q99543	DNJC2_HUMAN			4	676	-			142			J.		A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.426T>A	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347935	0.24426	.	.	ENSG00000105821	ENST00000426036	.	.	.	5.12	-0.356	0.12583	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21415	-1.0246	4	.	.	.	-25.2409	2.4981	0.04627	0.4621:0.2402:0.0661:0.2316	.	.	.	.	Q	131	.	.	L	-	2	0	DNAJC2	102755343	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	0.919000	0.28692	-0.196000	0.10366	0.379000	0.24179	CTA		0.333	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			4	90	0	0	0	1	0	4	90				
CC2D2A	57545	broad.mit.edu	37	4	15556749	15556749	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:15556749C>T	ENST00000503292.1	+	21	2721	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D	CC2D2A_ENST00000424120.1_Silent_p.D847D|CC2D2A_ENST00000413206.1_Silent_p.D847D|CC2D2A_ENST00000389652.5_Silent_p.D798D	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GACTGACAGACATGAAAAAAT	0.473																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2539-2541)gaC>gaT		coiled-coil and C2 domain containing 2A							95.0	99.0	98.0					4																	15556749		1972	4152	6124	SO:0001819	synonymous_variant	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15556749C>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2541C>T	4.37:g.15556749C>T			Somatic				CC2D2A_ENST00000389652.5_Silent_p.D798D|CC2D2A_ENST00000503292.1_Silent_p.D847D|CC2D2A_ENST00000413206.1_Silent_p.D847D	p.D847D			WXS	Illumina GAIIx	Phase_I	Q9P2K1	C2D2A_HUMAN			20	2795	+			847					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	c.2541C>T	CCDS47026.1																																																																																				0.473	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		18	103	0	0	0	1	0	18	103				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp		Somatic				CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	201	0	0	0	1	0	5	201				
OPRK1	4986	broad.mit.edu	37	8	54142010	54142010	+	Silent	SNP	G	G	A	rs77333617		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:54142010G>A	ENST00000265572.3	-	4	1287	c.990C>T	c.(988-990)taC>taT	p.Y330Y	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.Y330Y|OPRK1_ENST00000524278.1_Silent_p.Y241Y	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	330					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.Y330Y(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAAGAAAGGCGTAGAGAATGG	0.517																																						ENST00000265572.3																			1	Substitution - coding silent(1)	p.Y330Y(1)	large_intestine(1)	NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(988-990)taC>taT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	G		0,4406		0,0,2203	80.0	73.0	75.0		990	-4.5	1.0	8	dbSNP_131	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OPRK1	NM_000912.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		330/381	54142010	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142010G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.990C>T	8.37:g.54142010G>A			Somatic				RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.Y330Y|OPRK1_ENST00000524278.1_Silent_p.Y241Y	p.Y330Y	NM_000912.3	NP_000903.2	WXS	Illumina GAIIx	Phase_I	P41145	OPRK_HUMAN			4	1287	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	330					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.990C>T	CCDS6152.1																																																																																				0.517	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			6	94	0	0	0	1	0	6	94				
NDST2	8509	broad.mit.edu	37	10	75563696	75563696	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:75563696T>C	ENST00000309979.6	-	10	2478	c.1922A>G	c.(1921-1923)gAg>gGg	p.E641G	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.E641G|NDST2_ENST00000299641.4_Missense_Mutation_p.E518G|ZSWIM8-AS1_ENST00000456638.2_RNA			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	641	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GAACTGAATCTCCTCAAATGT	0.493																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1552-1554)gAg>gGg		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							151.0	150.0	150.0					10																	75563696		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563696T>C	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1922A>G	10.37:g.75563696T>C	ENSP00000310657:p.Glu641Gly		Somatic				NDST2_ENST00000309979.6_Missense_Mutation_p.E641G	p.E518G	NM_003635.3	NP_003626.1	WXS	Illumina GAIIx	Phase_I	P52849	NDST2_HUMAN			11	2523	-	Prostate(51;0.0112)		641			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1553A>G	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519118	0.85495	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.66995	-0.24;-0.24	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	H	0.97758	4.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.92486	0.5996	10	0.87932	D	0	.	16.4159	0.83738	0.0:0.0:0.0:1.0	.	518;311;164;641	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	G	641;518	ENSP00000310657:E641G;ENSP00000299641:E518G	ENSP00000299641:E518G	E	-	2	0	NDST2	75233702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	GAG		0.493	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		32	128	0	0	0	1	0	32	128				
NEUROG2	63973	broad.mit.edu	37	4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:113436146C>T	ENST00000313341.3	-	2	812	c.486G>A	c.(484-486)tgG>tgA	p.W162*	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	162	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(484-486)tgG>tgA		neurogenin 2							40.0	40.0	40.0					4																	113436146		2203	4300	6503	SO:0001587	stop_gained	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436146C>T	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.486G>A	4.37:g.113436146C>T	ENSP00000317333:p.Trp162*		Somatic					p.W162*	NM_024019.3	NP_076924.1	WXS	Illumina GAIIx	Phase_I	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	812	-		Ovarian(17;0.156)	162			Helix-loop-helix motif.		Q8N416	Nonsense_Mutation	SNP	ENST00000313341.3	37	c.486G>A	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	C	38	6.969561	0.97971	.	.	ENSG00000178403	ENST00000313341	.	.	.	3.76	3.76	0.43208	.	0.000000	0.45126	D	0.000399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9758	13.1517	0.59492	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000317333:W162X	W	-	3	0	NEUROG2	113655595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.931000	0.55961	0.563000	0.77884	TGG		0.711	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		3	94	0	0	0	1	0	3	94				
MICAL3	57553	broad.mit.edu	37	22	18368682	18368682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:18368682C>A	ENST00000441493.2	-	16	2555	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	MICAL3_ENST00000444520.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000429452.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000207726.7_Nonsense_Mutation_p.E735*|MICAL3_ENST00000400561.2_Nonsense_Mutation_p.E735*|MICAL3_ENST00000383094.3_Nonsense_Mutation_p.E735*|MICAL3_ENST00000414725.2_Nonsense_Mutation_p.E735*|MICAL3_ENST00000585038.1_Nonsense_Mutation_p.E735*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	735					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCGCATTCTCTTCAAATTTG	0.562																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2203-2205)Gag>Tag		microtubule associated monooxygenase, calponin and LIM domain containing 3							166.0	152.0	156.0					22																	18368682		1568	3582	5150	SO:0001587	stop_gained	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18368682C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2203G>T	22.37:g.18368682C>A	ENSP00000416015:p.Glu735*		Somatic				MICAL3_ENST00000429452.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000444520.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000383094.3_Nonsense_Mutation_p.E735*|MICAL3_ENST00000400561.2_Nonsense_Mutation_p.E735*|MICAL3_ENST00000585038.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000414725.2_Nonsense_Mutation_p.E735*|MICAL3_ENST00000207726.7_Nonsense_Mutation_p.E735*	p.E735*	NM_015241.2	NP_056056.2	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	16	2555	-		all_epithelial(15;0.198)	735					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Nonsense_Mutation	SNP	ENST00000441493.2	37	c.2203G>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	44	10.597159	0.99434	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	.	.	.	5.93	5.93	0.95920	.	0.052862	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	.	.	.	X	735	.	ENSP00000207726:E735X	E	-	1	0	XXbac-B461K10.4;MICAL3	16748682	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.731000	0.84895	2.815000	0.96918	0.561000	0.74099	GAG		0.562	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			57	295	1	0	3.25985e-27	1	3.63413e-27	57	295				
CDK5RAP1	51654	broad.mit.edu	37	20	31967381	31967381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:31967381A>T	ENST00000357886.4	-	9	1188	c.1035T>A	c.(1033-1035)taT>taA	p.Y345*	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTGGTTTTATAGTTGGTGG	0.473																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1033-1035)taT>taA		CDK5 regulatory subunit associated protein 1							115.0	118.0	117.0					20																	31967381		2203	4300	6503	SO:0001587	stop_gained	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967381A>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1035T>A	20.37:g.31967381A>T	ENSP00000350558:p.Tyr345*		Somatic				CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*	p.Y345*			WXS	Illumina GAIIx	Phase_I	Q96SZ6	CK5P1_HUMAN			9	1188	-			345					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	ENST00000357886.4	37	c.1035T>A		.	.	.	.	.	.	.	.	.	.	A	37	6.482042	0.97603	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000452723;ENST00000544843	.	.	.	5.16	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0353	5.063	0.14566	0.8052:0.0:0.1948:0.0	.	.	.	.	X	331;345;241;331	.	ENSP00000217372:Y331X	Y	-	3	2	CDK5RAP1	31431042	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.225000	0.58600	2.162000	0.67917	0.459000	0.35465	TAT		0.473	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		7	222	0	0	0	1	0	7	222				
SZT2	23334	broad.mit.edu	37	1	43868851	43868851	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:43868851G>A	ENST00000562955.1	+	2	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SZT2_ENST00000372450.4_Missense_Mutation_p.E11K|SZT2_ENST00000310739.4_Missense_Mutation_p.E11K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	11					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.E11*(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCCAGGTGGAAGAAGCTGG	0.448																																						ENST00000562955.1																			2	Substitution - Nonsense(2)	p.E11*(2)	endometrium(2)	NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(31-33)Gaa>Aaa		seizure threshold 2 homolog (mouse)							117.0	114.0	115.0					1																	43868851		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43868851G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.31G>A	1.37:g.43868851G>A	ENSP00000457168:p.Glu11Lys		Somatic				SZT2_ENST00000310739.4_Missense_Mutation_p.E11K|SZT2_ENST00000372450.4_Missense_Mutation_p.E11K	p.E11K	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			2	31	+			11					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.31G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894121	0.33442	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.58409	0.2120	N	0.22421	0.69	0.80722	D	1	P;D	0.55605	0.827;0.972	P;P	0.53912	0.52;0.737	T	0.53464	-0.8435	8	0.27785	T	0.31	.	19.8786	0.96886	0.0:0.0:1.0:0.0	.	11;11	Q5T011-4;Q5T011-7	.;.	K	11	.	ENSP00000312234:E11K	E	+	1	0	AL139289.1	43641438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.838000	0.92115	2.693000	0.91896	0.655000	0.94253	GAA		0.448	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		37	131	0	0	0	1	0	37	131				
LRP5	4041	broad.mit.edu	37	11	68193567	68193567	+	Silent	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:68193567C>G	ENST00000294304.7	+	16	3655	c.3549C>G	c.(3547-3549)acC>acG	p.T1183T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1183	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGAAGACCACCGGGGACA	0.622																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3547-3549)acC>acG		low density lipoprotein receptor-related protein 5							106.0	92.0	97.0					11																	68193567		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68193567C>G	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3549C>G	11.37:g.68193567C>G			Somatic					p.T1183T	NM_002335.2	NP_002326.2	WXS	Illumina GAIIx	Phase_I	O75197	LRP5_HUMAN			16	3655	+			1183			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3549C>G	CCDS8181.1																																																																																				0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		45	121	0	0	0	1	0	45	121				
TFDP3	51270	broad.mit.edu	37	X	132351771	132351771	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:132351771C>T	ENST00000310125.4	-	1	605	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	173					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ATATTCATGGCCATCAGCACG	0.483																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(517-519)Gcc>Acc		transcription factor Dp family, member 3							107.0	93.0	97.0					X																	132351771		2203	4300	6503	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351771C>T	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.517G>A	X.37:g.132351771C>T	ENSP00000385461:p.Ala173Thr		Somatic					p.A173T	NM_016521.2	NP_057605.3	WXS	Illumina GAIIx	Phase_I	Q5H9I0	TFDP3_HUMAN			1	605	-	Acute lymphoblastic leukemia(192;0.000127)		173					Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.517G>A	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	c	17.42	3.385166	0.61956	.	.	ENSG00000183434	ENST00000310125	T	0.58940	0.3	0.208	0.208	0.15221	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.74786	0.3762	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73177	-0.4065	9	0.87932	D	0	.	6.1509	0.20310	0.0:0.9996:0.0:4.0E-4	.	173	Q5H9I0	TFDP3_HUMAN	T	173	ENSP00000385461:A173T	ENSP00000385461:A173T	A	-	1	0	TFDP3	132179437	1.000000	0.71417	0.251000	0.24312	0.253000	0.25986	5.210000	0.65214	0.268000	0.21939	0.271000	0.19318	GCC		0.483	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		3	87	0	0	0	1	0	3	87				
NFASC	23114	broad.mit.edu	37	1	204943409	204943409	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:204943409C>T	ENST00000401399.1	+	12	1581	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I	NFASC_ENST00000404907.1_Missense_Mutation_p.T472I|NFASC_ENST00000339876.6_Missense_Mutation_p.T461I|NFASC_ENST00000367171.4_Missense_Mutation_p.T461I|NFASC_ENST00000367169.4_Missense_Mutation_p.T461I|NFASC_ENST00000367170.4_Missense_Mutation_p.T461I|NFASC_ENST00000338586.6_Missense_Mutation_p.T461I|NFASC_ENST00000513543.1_Missense_Mutation_p.T472I|NFASC_ENST00000539706.1_Missense_Mutation_p.T472I|NFASC_ENST00000404076.1_Missense_Mutation_p.T455I|NFASC_ENST00000367172.4_Missense_Mutation_p.T461I|NFASC_ENST00000338515.6_Missense_Mutation_p.T461I|NFASC_ENST00000403080.1_Missense_Mutation_p.T461I|NFASC_ENST00000360049.4_Missense_Mutation_p.T472I			O94856	NFASC_HUMAN	neurofascin	461	Ig-like C2-type 5.				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)				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)			CCCATCCCCACACTGCGATGG	0.577																																						ENST00000367172.4																			0				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.(1381-1383)aCa>aTa		neurofascin							72.0	48.0	56.0					1																	204943409		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204943409C>T	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.1382C>T	1.37:g.204943409C>T	ENSP00000385637:p.Thr461Ile		Somatic				NFASC_ENST00000367170.4_Missense_Mutation_p.T461I|NFASC_ENST00000338586.6_Missense_Mutation_p.T461I|NFASC_ENST00000360049.4_Missense_Mutation_p.T472I|NFASC_ENST00000539706.1_Missense_Mutation_p.T472I|NFASC_ENST00000338515.6_Missense_Mutation_p.T461I|NFASC_ENST00000513543.1_Missense_Mutation_p.T472I|NFASC_ENST00000367169.4_Missense_Mutation_p.T461I|NFASC_ENST00000339876.6_Missense_Mutation_p.T461I|NFASC_ENST00000404076.1_Missense_Mutation_p.T455I|NFASC_ENST00000401399.1_Missense_Mutation_p.T461I|NFASC_ENST00000403080.1_Missense_Mutation_p.T461I|NFASC_ENST00000404907.1_Missense_Mutation_p.T472I|NFASC_ENST00000367171.4_Missense_Mutation_p.T461I	p.T461I			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)		13	1710	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		461			Ig-like C2-type 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.1382C>T	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.08|15.08	2.726620|2.726620	0.48833|0.48833	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68181	.|-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.53938	.|D	.|0.000044	T|T	0.70298|0.70298	0.3208|0.3208	L|L	0.49126|0.49126	1.545|1.545	0.38611|0.38611	D|D	0.950913|0.950913	.|P;P;P;B;B;P;P	.|0.47106	.|0.867;0.584;0.89;0.452;0.109;0.882;0.575	.|P;B;P;B;B;P;B	.|0.48488	.|0.563;0.201;0.579;0.202;0.027;0.498;0.312	T|T	0.71823|0.71823	-0.4476|-0.4476	5|10	.|0.41790	.|T	.|0.15	.|.	19.0836|19.0836	0.93192|0.93192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|472;472;557;461;461;472;461	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	Y|I	431|461;461;461;461;461;461;472;472;472;461;461;455;461;472;472;448	.|ENSP00000356140:T461I;ENSP00000356139:T461I;ENSP00000356138:T461I;ENSP00000342128:T461I;ENSP00000344786:T461I;ENSP00000343509:T461I;ENSP00000438614:T472I;ENSP00000353154:T472I;ENSP00000356137:T461I;ENSP00000384875:T461I;ENSP00000385676:T455I;ENSP00000385637:T461I;ENSP00000384061:T472I;ENSP00000425908:T472I;ENSP00000415031:T448I	.|ENSP00000295776:T472I	H|T	+|+	1|2	0|0	NFASC|NFASC	203210032|203210032	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.902000|0.902000	0.53008|0.53008	4.454000|4.454000	0.60068|0.60068	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	CAC|ACA		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		25	103	0	0	0	1	0	25	103				
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	ZNF649_ENST00000600738.1_Splice_Site_p.K218R|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					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)		GAGCCTGTACTTCTTGTAGAA	0.483																																						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.(652-654)aAg>aGg		zinc finger protein 649							119.0	114.0	116.0					19																	52394736		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394736T>C	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.653A>G	19.37:g.52394736T>C	ENSP00000347043:p.Lys218Arg		Somatic				ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice|CTC-429C10.2_ENST00000600329.1_RNA	p.K218R	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	937	-		all_neural(266;0.0602)	218					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.653A>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278977	0.23307	.	.	ENSG00000198093	ENST00000354957	T	0.15834	2.39	2.61	0.223	0.15292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	N	0.21583	0.68	0.09310	N	1	B	0.23185	0.081	B	0.15484	0.013	T	0.33059	-0.9883	9	0.31617	T	0.26	.	6.6154	0.22774	0.0:0.2836:0.0:0.7164	.	218	Q9BS31	ZN649_HUMAN	R	218	ENSP00000347043:K218R	ENSP00000347043:K218R	K	-	2	0	ZNF649	57086548	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.478000	0.06575	0.157000	0.19338	0.327000	0.21459	AAG		0.483	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		7	227	0	0	0	1	0	7	227				
TP63	8626	broad.mit.edu	37	3	189597958	189597958	+	Intron	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:189597958G>A	ENST00000264731.3	+	11	1438				TP63_ENST00000440651.2_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Silent_p.V485V|TP63_ENST00000320472.5_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000437221.1_Silent_p.V391V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCGATCAGTGTACCCATAGA	0.448										HNSCC(45;0.13)																												ENST00000418709.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1453-1455)gtG>gtA		tumor protein p63							100.0	92.0	94.0					3																	189597958		1568	3582	5150	SO:0001627	intron_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189597958G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1350-6225G>A	3.37:g.189597958G>A		HNSCC(45;0.13)	Somatic				TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000437221.1_Silent_p.V391V|TP63_ENST00000392460.3_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000392461.3_Intron	p.V485V	NM_001114979.1	NP_001108451.1	WXS	Illumina GAIIx	Phase_I	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1483	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		0					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.1455G>A	CCDS3293.1																																																																																				0.448	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		16	112	0	0	0	1	0	16	112				
ATP2A1	487	broad.mit.edu	37	16	28911917	28911917	+	Missense_Mutation	SNP	G	G	C	rs142091964	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:28911917G>C	ENST00000357084.3	+	15	2047	c.1780G>C	c.(1780-1782)Gtg>Ctg	p.V594L	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V594L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V469L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	594					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTGACATTCGTGGGTGTAGT	0.637																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1780-1782)Gtg>Ctg		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							73.0	63.0	67.0					16																	28911917		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28911917G>C		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1780G>C	16.37:g.28911917G>C	ENSP00000349595:p.Val594Leu		Somatic				ATP2A1_ENST00000357084.3_Missense_Mutation_p.V594L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V469L	p.V594L	NM_004320.4	NP_004311.1	WXS	Illumina GAIIx	Phase_I	O14983	AT2A1_HUMAN			15	1964	+			594					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1780G>C	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896743	0.52121	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98649	-5.05;-5.05;-5.05	5.31	3.36	0.38483	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.056883	0.64402	D	0.000001	D	0.96318	0.8799	L	0.39326	1.205	0.50813	D	0.999891	P;B;B	0.42556	0.783;0.005;0.007	B;B;B	0.40285	0.325;0.042;0.037	D	0.93945	0.7227	10	0.40728	T	0.16	.	11.0148	0.47682	0.1527:0.0:0.8473:0.0	.	469;594;594	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	594;594;631;469	ENSP00000349595:V594L;ENSP00000378879:V594L;ENSP00000443101:V469L	ENSP00000349595:V594L	V	+	1	0	ATP2A1	28819418	1.000000	0.71417	0.030000	0.17652	0.731000	0.41821	4.865000	0.62998	0.635000	0.30488	0.485000	0.47835	GTG		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		4	378	0	0	0	1	0	4	378				
PREX1	57580	broad.mit.edu	37	20	47266546	47266546	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:47266546C>G	ENST00000371941.3	-	24	3038	c.3016G>C	c.(3016-3018)Gac>Cac	p.D1006H	PREX1_ENST00000396220.1_Missense_Mutation_p.D1006H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1006					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCTCCGGGTCAAGGCCGATG	0.532																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3016-3018)Gac>Cac		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							73.0	69.0	70.0					20																	47266546		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266546C>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3016G>C	20.37:g.47266546C>G	ENSP00000361009:p.Asp1006His		Somatic				PREX1_ENST00000371941.3_Missense_Mutation_p.D1006H	p.D1006H			WXS	Illumina GAIIx	Phase_I	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		24	3038	-			1006					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3016G>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697715	0.48307	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.52754	0.65;0.65	5.71	5.71	0.89125	.	0.000000	0.56097	U	0.000028	T	0.67515	0.2901	L	0.59436	1.845	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75484	0.969;0.986	T	0.67031	-0.5773	10	0.59425	D	0.04	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	1006;303	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	H	1006	ENSP00000361009:D1006H;ENSP00000379522:D1006H	ENSP00000361009:D1006H	D	-	1	0	PREX1	46699953	1.000000	0.71417	0.993000	0.49108	0.805000	0.45488	4.285000	0.58989	2.709000	0.92574	0.655000	0.94253	GAC		0.532	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		17	114	0	0	0	1	0	17	114				
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:3380510T>C	ENST00000399602.4	-	6	1854	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000354599.6_Silent_p.K504K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1510-1512)aaA>aaG		zinc finger protein 195																																				SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380510T>C		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1728A>G	11.37:g.3380510T>C			Somatic				ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron	p.K504K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	WXS	Illumina GAIIx	Phase_I	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1616	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	576					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1512A>G	CCDS44522.1																																																																																				0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			3	219	0	0	0	1	0	3	219				
CYP2A13	1553	broad.mit.edu	37	19	41597726	41597726	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:41597726C>A	ENST00000330436.3	+	5	744	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	AGGACTTCATCGCCAAGAAGG	0.557																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(742-744)atC>atA		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						161.0	122.0	135.0					19																	41597726		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597726C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.744C>A	19.37:g.41597726C>A			Somatic					p.I248I	NM_000766.4	NP_000757.2	WXS	Illumina GAIIx	Phase_I	Q16696	CP2AD_HUMAN			5	744	+			248					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.744C>A	CCDS12571.1																																																																																				0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		4	178	1	0	0.0293803	1	0.0298766	4	178				
EVC	2121	broad.mit.edu	37	4	5733355	5733355	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:5733355C>T	ENST00000264956.6	+	4	772	c.588C>T	c.(586-588)aaC>aaT	p.N196N	EVC_ENST00000382674.2_Silent_p.N196N|EVC_ENST00000509451.1_Silent_p.N196N	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	196					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCCGGGTGAACGCCTTCCCTG	0.617																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(586-588)aaC>aaT		Ellis van Creveld syndrome							58.0	48.0	51.0					4																	5733355		2203	4300	6503	SO:0001819	synonymous_variant	2121				muscle organ development	integral to membrane		g.chr4:5733355C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.588C>T	4.37:g.5733355C>T			Somatic				EVC_ENST00000264956.6_Silent_p.N196N|EVC_ENST00000509451.1_Silent_p.N196N	p.N196N			WXS	Illumina GAIIx	Phase_I	P57679	EVC_HUMAN			4	772	+		Myeloproliferative disorder(84;0.117)	196						Silent	SNP	ENST00000264956.6	37	c.588C>T	CCDS3383.1																																																																																				0.617	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			16	73	0	0	0	1	0	16	73				
TMEM70	54968	broad.mit.edu	37	8	74891082	74891082	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:74891082C>T	ENST00000312184.5	+	2	375	c.302C>T	c.(301-303)gCc>gTc	p.A101V	TMEM70_ENST00000517439.1_Missense_Mutation_p.A101V|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	101					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GGCAATATGGCCCGAGCAGTG	0.343																																						ENST00000312184.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(301-303)gCc>gTc		transmembrane protein 70							153.0	166.0	162.0					8																	74891082		2203	4300	6503	SO:0001583	missense	54968				mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		g.chr8:74891082C>T	BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.302C>T	8.37:g.74891082C>T	ENSP00000312599:p.Ala101Val		Somatic				TMEM70_ENST00000517439.1_Missense_Mutation_p.A101V	p.A101V	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	WXS	Illumina GAIIx	Phase_I	Q9BUB7	TMM70_HUMAN	Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)		2	375	+	Breast(64;0.0311)		101					E9PDY9|Q9NWY5	Missense_Mutation	SNP	ENST00000312184.5	37	c.302C>T	CCDS6215.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015816	0.75161	.	.	ENSG00000175606	ENST00000517439;ENST00000312184	T;T	0.63417	-0.04;0.91	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	L	0.34521	1.04	0.49051	D	0.999748	D;B	0.89917	1.0;0.004	D;B	0.87578	0.998;0.011	T	0.74084	-0.3779	10	0.59425	D	0.04	-10.2804	18.2223	0.89905	0.0:1.0:0.0:0.0	.	101;101	E9PDY9;Q9BUB7	.;TMM70_HUMAN	V	101	ENSP00000429467:A101V;ENSP00000312599:A101V	ENSP00000312599:A101V	A	+	2	0	TMEM70	75053636	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.880000	0.48530	2.603000	0.88011	0.651000	0.88453	GCC		0.343	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866		3	85	0	0	0	1	0	3	85				
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:29019452A>T	ENST00000294409.2	+	5	456		c.e5-1		GMEB1_ENST00000373816.1_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site|GMEB1_ENST00000361872.4_Splice_Site	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.e5-1		glucocorticoid modulatory element binding protein 1							110.0	101.0	104.0					1																	29019452		2203	4300	6503	SO:0001630	splice_region_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29019452A>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.367-1A>T	1.37:g.29019452A>T			Somatic				GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site		NM_024482.2	NP_077808.1	WXS	Illumina GAIIx	Phase_I	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	474	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						B1AT48|Q9NWH1|Q9UKD0	Splice_Site	SNP	ENST00000294409.2	37		CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528904	0.85706	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMEB1	28892039	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.283000	0.78640	2.311000	0.77944	0.533000	0.62120	.		0.403	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	Intron	7	137	0	0	0	1	0	7	137				
FAT3	120114	broad.mit.edu	37	11	92430597	92430597	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:92430597G>C	ENST00000298047.6	+	3	3672	c.3655G>C	c.(3655-3657)Gaa>Caa	p.E1219Q	FAT3_ENST00000525166.1_Missense_Mutation_p.E1069Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E1219Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1219	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGCAGGCAGAACATTTTCT	0.358										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3655-3657)Gaa>Caa		FAT atypical cadherin 3							99.0	91.0	93.0					11																	92430597		1848	4103	5951	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92430597G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3655G>C	11.37:g.92430597G>C	ENSP00000298047:p.Glu1219Gln	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.E1069Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E1219Q	p.E1219Q			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			3	3672	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1219			Cadherin 11.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3655G>C		.	.	.	.	.	.	.	.	.	.	G	22.1	4.246282	0.80024	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52295	0.67;0.67;0.67	5.96	5.96	0.96718	.	.	.	.	.	T	0.62600	0.2441	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59968	-0.7354	9	0.51188	T	0.08	.	18.5928	0.91220	0.0:0.0:1.0:0.0	.	1219	Q8TDW7-3	.	Q	1219;1219;1069	ENSP00000298047:E1219Q;ENSP00000387040:E1219Q;ENSP00000432586:E1069Q	ENSP00000298047:E1219Q	E	+	1	0	FAT3	92070245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.439000	0.80444	2.824000	0.97209	0.655000	0.94253	GAA		0.358	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	210	0	0	0	1	0	5	210				
ACO1	48	broad.mit.edu	37	9	32433772	32433772	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:32433772T>A	ENST00000309951.6	+	16	2036	c.1898T>A	c.(1897-1899)cTg>cAg	p.L633Q	ACO1_ENST00000379923.1_Missense_Mutation_p.L633Q|ACO1_ENST00000541043.1_Missense_Mutation_p.L534Q	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	633					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCAGATAAGCTGTTTTTCTGG	0.343																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(1897-1899)cTg>cAg		aconitase 1, soluble							110.0	111.0	110.0					9																	32433772		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32433772T>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1898T>A	9.37:g.32433772T>A	ENSP00000309477:p.Leu633Gln		Somatic				ACO1_ENST00000541043.1_Missense_Mutation_p.L534Q|ACO1_ENST00000309951.5_Missense_Mutation_p.L633Q	p.L633Q	NM_001278352.1	NP_001265281.1	WXS	Illumina GAIIx	Phase_I	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	17	2104	+			633					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1898T>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313726	0.60414	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.38401	1.14;1.14;2.16	5.19	5.19	0.71726	Aconitase/3-isopropylmalate dehydratase, swivel (1);	0.000000	0.64402	D	0.000002	T	0.45094	0.1325	M	0.73319	2.225	0.80722	D	1	D;B	0.58268	0.982;0.435	P;B	0.46885	0.53;0.197	T	0.51787	-0.8661	10	0.62326	D	0.03	-10.6577	14.0185	0.64539	0.0:0.0:0.0:1.0	.	669;633	Q59FI0;P21399	.;ACOC_HUMAN	Q	669;633;633;534	ENSP00000309477:L633Q;ENSP00000369255:L633Q;ENSP00000438733:L534Q	ENSP00000309477:L633Q	L	+	2	0	ACO1	32423772	1.000000	0.71417	0.989000	0.46669	0.388000	0.30384	8.040000	0.89188	1.964000	0.57103	0.460000	0.39030	CTG		0.343	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		29	70	0	0	0	1	0	29	70				
PCMTD1	115294	broad.mit.edu	37	8	52733161	52733161	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:52733161T>A	ENST00000360540.5	-	7	1230	c.824A>T	c.(823-825)aAa>aTa	p.K275I	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.K199I|PCMTD1_ENST00000522514.1_Missense_Mutation_p.K275I	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	275						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTTCCTTTTGGGTGGAGC	0.403																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(823-825)aAa>aTa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							135.0	141.0	139.0					8																	52733161		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733161T>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.824A>T	8.37:g.52733161T>A	ENSP00000353739:p.Lys275Ile		Somatic				PCMTD1_ENST00000522514.1_Missense_Mutation_p.K275I|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.K199I	p.K275I	NM_052937.2	NP_443169.2	WXS	Illumina GAIIx	Phase_I	Q96MG8	PCMD1_HUMAN			7	1230	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	275					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.824A>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087606	0.55968	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.42513	0.97;0.97;0.97	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.62723	1.935	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.837	D;D;B	0.85130	0.997;0.961;0.312	T	0.55490	-0.8133	10	0.20046	T	0.44	-27.7247	16.4473	0.83942	0.0:0.0:0.0:1.0	.	145;199;275	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	I	275;199;275	ENSP00000353739:K275I;ENSP00000444026:K199I;ENSP00000428099:K275I	ENSP00000353739:K275I	K	-	2	0	PCMTD1	52895714	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.244000	0.78228	2.281000	0.76405	0.533000	0.62120	AAA		0.403	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		14	519	0	0	0	1	0	14	519				
UNC13B	10497	broad.mit.edu	37	9	35385805	35385805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:35385805A>T	ENST00000378495.3	+	22	2935	c.2713A>T	c.(2713-2715)Atg>Ttg	p.M905L	UNC13B_ENST00000396787.1_Missense_Mutation_p.M917L|UNC13B_ENST00000378496.4_Missense_Mutation_p.M905L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	905					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCTTCAGAATGAAGGTAAG	0.483																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2713-2715)Atg>Ttg		unc-13 homolog B (C. elegans)							71.0	73.0	73.0					9																	35385805		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35385805A>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2713A>T	9.37:g.35385805A>T	ENSP00000367756:p.Met905Leu		Somatic				UNC13B_ENST00000396787.1_Missense_Mutation_p.M917L|UNC13B_ENST00000378496.4_Missense_Mutation_p.M905L	p.M905L	NM_006377.3	NP_006368.3	WXS	Illumina GAIIx	Phase_I	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		22	2935	+	all_epithelial(49;0.212)		905					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2713A>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797184	0.90538	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84442	-1.72;-1.65;-1.85	5.21	5.21	0.72293	.	0.037971	0.85682	D	0.000000	T	0.81711	0.4880	L	0.47078	1.49	0.80722	D	1	B;B	0.17852	0.024;0.004	B;B	0.14578	0.011;0.005	T	0.78497	-0.2181	10	0.52906	T	0.07	-24.2713	15.3729	0.74581	1.0:0.0:0.0:0.0	.	905;905	F8W8M9;O14795	.;UN13B_HUMAN	L	917;905;905;492	ENSP00000380006:M917L;ENSP00000367756:M905L;ENSP00000367757:M905L	ENSP00000367756:M905L	M	+	1	0	UNC13B	35375805	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.875000	0.69660	2.088000	0.63022	0.533000	0.62120	ATG		0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		28	64	0	0	0	1	0	28	64				
FAM149A	25854	broad.mit.edu	37	4	187088364	187088364	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:187088364G>A	ENST00000356371.5	+	13	2196	c.2196G>A	c.(2194-2196)ttG>ttA	p.L732L	FAM149A_ENST00000502970.1_Silent_p.L441L|FAM149A_ENST00000503432.1_Silent_p.L441L|FAM149A_ENST00000514153.1_Silent_p.L441L|FAM149A_ENST00000227065.4_Silent_p.L441L|FAM149A_ENST00000389354.5_Silent_p.L441L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	732										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		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;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AAAGTTCATTGACACAAATGG	0.338																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(2194-2196)ttG>ttA		family with sequence similarity 149, member A							133.0	134.0	134.0					4																	187088364		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187088364G>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2196G>A	4.37:g.187088364G>A			Somatic				FAM149A_ENST00000227065.4_Silent_p.L441L|FAM149A_ENST00000503432.1_Silent_p.L441L|FAM149A_ENST00000502970.1_Silent_p.L441L|FAM149A_ENST00000514153.1_Silent_p.L441L|FAM149A_ENST00000389354.5_Silent_p.L441L	p.L732L			WXS	Illumina GAIIx	Phase_I	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	13	2196	+		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)	732					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.2196G>A		.	.	.	.	.	.	.	.	.	.	G	0.239	-1.015076	0.02078	.	.	ENSG00000109794	ENST00000512271	.	.	.	5.62	4.78	0.61160	.	.	.	.	.	T	0.59115	0.2170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57219	-0.7849	4	.	.	.	-15.7311	8.5586	0.33496	0.0783:0.0:0.7701:0.1515	.	.	.	.	N	118	.	.	D	+	1	0	FAM149A	187325358	1.000000	0.71417	0.125000	0.21846	0.044000	0.14063	2.966000	0.49208	1.387000	0.46486	0.591000	0.81541	GAC		0.338	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		4	276	0	0	0	1	0	4	276				
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423																																						ENST00000334181.4																			2	Substitution - coding silent(2)	p.H369H(1)|p.H456H(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1366-1368)caC>caT		zinc finger protein 749							93.0	89.0	91.0					19																	57955884		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955884C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1368C>T	19.37:g.57955884C>T			Somatic				AC004076.9_ENST00000596831.1_Intron	p.H456H	NM_001023561.2	NP_001018855.2	WXS	Illumina GAIIx	Phase_I	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1618	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	456						Silent	SNP	ENST00000334181.4	37	c.1368C>T	CCDS33132.2																																																																																				0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		5	434	0	0	0	1	0	5	434				
DMBT1	1755	broad.mit.edu	37	10	124339227	124339227	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:124339227C>T	ENST00000338354.3	+	10	919	c.813C>T	c.(811-813)gtC>gtT	p.V271V	DMBT1_ENST00000344338.3_Silent_p.V271V|DMBT1_ENST00000330163.4_Silent_p.V271V|DMBT1_ENST00000368955.3_Silent_p.V271V|DMBT1_ENST00000368956.2_Silent_p.V271V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Silent_p.V271V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	271	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAATGTGGTCTGCAGGCAGC	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(811-813)gtC>gtT		deleted in malignant brain tumors 1							199.0	199.0	199.0					10																	124339227		1995	4161	6156	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339227C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.813C>T	10.37:g.124339227C>T			Somatic				DMBT1_ENST00000330163.4_Silent_p.V271V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Silent_p.V271V|DMBT1_ENST00000368956.2_Silent_p.V271V|DMBT1_ENST00000344338.3_Silent_p.V271V|DMBT1_ENST00000368955.3_Silent_p.V271V	p.V271V	NM_007329.2	NP_015568.2	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			10	919	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	271			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.813C>T																																																																																					0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		9	721	0	0	0	1	0	9	721				
HNRNPH1	3187	broad.mit.edu	37	5	179047898	179047898	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:179047898A>G	ENST00000356731.5	-	3	1927	c.392T>C	c.(391-393)tTc>tCc	p.F131S	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.F131S|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.F131S|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.F131S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.F131S			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	131	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CATACCTGAGAAGAACTGAAC	0.418																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(391-393)tTc>tCc		heterogeneous nuclear ribonucleoprotein H1 (H)							116.0	104.0	108.0					5																	179047898		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179047898A>G	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.392T>C	5.37:g.179047898A>G	ENSP00000349168:p.Phe131Ser		Somatic				HNRNPH1_ENST00000510411.1_Missense_Mutation_p.F131S|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.F131S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.F131S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.F131S|HNRNPH1_ENST00000524180.1_5'UTR	p.F131S			WXS	Illumina GAIIx	Phase_I	P31943	HNRH1_HUMAN			3	1927	-			131			RRM 2.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.392T>C	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	a	25.0	4.592963	0.86953	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000521790;ENST00000504348;ENST00000513225	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.8;0.8;0.8	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86066	0.5844	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92023	0.5627	10	0.87932	D	0	-3.8902	15.314	0.74059	1.0:0.0:0.0:0.0	.	131	P31943	HNRH1_HUMAN	S	131;131;131;131;131;131;131;131;131;131;79;54;131;131	ENSP00000377082:F131S;ENSP00000397797:F131S;ENSP00000349168:F131S;ENSP00000327539:F131S;ENSP00000426275:F131S;ENSP00000427408:F131S;ENSP00000425732:F131S;ENSP00000420850:F131S;ENSP00000424087:F131S;ENSP00000423140:F131S;ENSP00000430970:F79S;ENSP00000430156:F54S;ENSP00000427388:F131S;ENSP00000426518:F131S	ENSP00000327539:F131S	F	-	2	0	HNRNPH1	178980504	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.030000	0.59900	0.383000	0.25322	TTC		0.418	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		3	79	0	0	0	1	0	3	79				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His		Somatic				ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA	p.Q565H			WXS	Illumina GAIIx	Phase_I	O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		4	271	0	0	0	1	0	4	271				
IL23R	149233	broad.mit.edu	37	1	67666582	67666582	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:67666582T>A	ENST00000347310.5	+	5	823		c.e5+2		IL23R_ENST00000371002.1_Splice_Site|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATGATATAGGTAAAGAATAAG	0.398																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.e5+2		interleukin 23 receptor							79.0	81.0	81.0					1																	67666582		2203	4300	6503	SO:0001630	splice_region_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67666582T>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.652+2T>A	1.37:g.67666582T>A			Somatic				C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site		NM_144701.2	NP_653302.2	WXS	Illumina GAIIx	Phase_I	Q5VWK5	IL23R_HUMAN			5	823	+								C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Splice_Site	SNP	ENST00000347310.5	37		CCDS637.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203485	0.58234	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000540911;ENST00000371002;ENST00000543799	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8155	0.57663	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL23R	67439170	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	4.051000	0.57412	2.279000	0.76181	0.533000	0.62120	.		0.398	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	Intron	5	250	0	0	0	1	0	5	250				
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373723.5_Splice_Site|MRRF_ENST00000373724.1_Intron|MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000394315.3_5'Flank	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393																																						ENST00000344641.3																			0				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						c.e2-1		mitochondrial ribosome recycling factor							87.0	94.0	92.0					9																	125033141		2203	4300	6503	SO:0001630	splice_region_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125033141A>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.-28-1A>T	9.37:g.125033141A>T			Somatic				MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373728.1_Splice_Site		NM_138777.3	NP_620132.1	WXS	Illumina GAIIx	Phase_I	Q96E11	RRFM_HUMAN			2	283	+								A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Splice_Site	SNP	ENST00000344641.3	37		CCDS6840.1																																																																																				0.393	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777	Intron	6	249	0	0	0	1	0	6	249				
MYCN	4613	broad.mit.edu	37	2	16085886	16085886	+	Silent	SNP	G	G	T	rs201114632		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:16085886G>T	ENST00000281043.3	+	3	1359	c.1062G>T	c.(1060-1062)gcG>gcT	p.A354A		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	354					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGAGCGAGGCGTCCCCACGTC	0.582			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1060-1062)gcG>gcT		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							47.0	45.0	46.0					2																	16085886		2203	4300	6503	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16085886G>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1062G>T	2.37:g.16085886G>T			Somatic					p.A354A	NM_005378.4	NP_005369.2	WXS	Illumina GAIIx	Phase_I	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1359	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		354					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.1062G>T	CCDS1687.1																																																																																				0.582	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		4	45	1	0	0.184627	1	0.185243	4	45				
PLA2G10	8399	broad.mit.edu	37	16	14766506	14766506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:14766506G>T	ENST00000438167.3	-	4	895	c.456C>A	c.(454-456)taC>taA	p.Y152*		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	152					arachidonic acid metabolic process (GO:0019369)|axon guidance (GO:0007411)|cholesterol homeostasis (GO:0042632)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lysophospholipid transport (GO:0051977)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of prostaglandin secretion (GO:0032308)|regulation of macrophage activation (GO:0043030)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)|phospholipase activity (GO:0004620)										GGAACTGGGGGTAGAAGAGGT	0.468																																						ENST00000438167.3																			0											c.(454-456)taC>taA		phospholipase A2, group X							210.0	189.0	196.0					16																	14766506		2197	4300	6497	SO:0001587	stop_gained	8399				arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr16:14766506G>T	U95301	CCDS10555.1	16p13.1-p12	2008-09-19			ENSG00000069764	ENSG00000069764	3.1.1.4		9029	protein-coding gene	gene with protein product		603603				9188469	Standard	NM_003561		Approved	GXPLA2	uc002dcq.3	O15496	OTTHUMG00000048069	ENST00000438167.3:c.456C>A	16.37:g.14766506G>T	ENSP00000393847:p.Tyr152*		Somatic					p.Y152*	NM_003561.1	NP_003552.1	WXS	Illumina GAIIx	Phase_I	O15496	PA2GX_HUMAN			4	895	-			152					Q14DU3|Q6NT23	Nonsense_Mutation	SNP	ENST00000438167.3	37	c.456C>A	CCDS10555.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699342	0.68501	.	.	ENSG00000069764	ENST00000438167;ENST00000261659	.	.	.	5.64	0.426	0.16479	.	0.393678	0.29529	N	0.011899	.	.	.	.	.	.	0.50632	D	0.999881	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9908	0.14213	0.4211:0.1606:0.4183:0.0	.	.	.	.	X	152	.	ENSP00000261659:Y152X	Y	-	3	2	PLA2G10	14674007	1.000000	0.71417	0.786000	0.31890	0.236000	0.25371	0.808000	0.27154	0.066000	0.16515	0.609000	0.83330	TAC		0.468	PLA2G10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109393.3	NM_003561		16	1293	1	0	1.08611e-07	1	1.16341e-07	16	1293				
PER1	5187	broad.mit.edu	37	17	8053196	8053196	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:8053196T>A	ENST00000317276.4	-	5	767		c.e5-2		PER1_ENST00000354903.5_Splice_Site|PER1_ENST00000581082.1_Splice_Site	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1						circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTGGTTGGCTGCAGAGTGGA	0.602			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e5-2	Other conserved DNA damage response genes	period circadian clock 1							178.0	176.0	177.0					17																	8053196		2203	4300	6503	SO:0001630	splice_region_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053196T>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.530-2A>T	17.37:g.8053196T>A			Somatic				PER1_ENST00000581082.1_Splice_Site|PER1_ENST00000354903.5_Splice_Site		NM_002616.2	NP_002607.2	WXS	Illumina GAIIx	Phase_I	O15534	PER1_HUMAN			5	767	-								B2RPA8|B4DI49|D3DTR3	Splice_Site	SNP	ENST00000317276.4	37		CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449096	0.63178	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6552	0.62333	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PER1	7993921	1.000000	0.71417	0.992000	0.48379	0.795000	0.44927	7.728000	0.84847	2.118000	0.64928	0.460000	0.39030	.		0.602	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2		Intron	10	783	0	0	0	1	0	10	783				
ZNF318	24149	broad.mit.edu	37	6	43323408	43323408	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:43323408A>G	ENST00000361428.2	-	4	1741	c.1664T>C	c.(1663-1665)cTt>cCt	p.L555P	ZNF318_ENST00000318149.3_Missense_Mutation_p.L555P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	555					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGAGCTCCCAAGGGGCTTTGG	0.473																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(1663-1665)cTt>cCt		zinc finger protein 318							132.0	140.0	138.0					6																	43323408		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323408A>G	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1664T>C	6.37:g.43323408A>G	ENSP00000354964:p.Leu555Pro		Somatic				ZNF318_ENST00000318149.3_Missense_Mutation_p.L555P	p.L555P	NM_014345.2	NP_055160.2	WXS	Illumina GAIIx	Phase_I	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1741	-			555					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1664T>C	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	A	6.706	0.498984	0.12762	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03358	3.96;3.96	6.17	2.52	0.30459	.	0.899980	0.09663	N	0.772199	T	0.00724	0.0024	N	0.14661	0.345	0.21527	N	0.999659	B	0.15141	0.012	B	0.15484	0.013	T	0.48468	-0.9033	10	0.33141	T	0.24	-0.3352	3.4446	0.07476	0.4819:0.2013:0.3168:0.0	.	555	Q5VUA4	ZN318_HUMAN	P	555	ENSP00000323032:L555P;ENSP00000354964:L555P	ENSP00000323032:L555P	L	-	2	0	ZNF318	43431386	0.001000	0.12720	0.743000	0.31040	0.698000	0.40448	0.680000	0.25306	0.549000	0.28973	0.533000	0.62120	CTT		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		4	588	0	0	0	1	0	4	588				
SLC4A7	9497	broad.mit.edu	37	3	27475590	27475590	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:27475590C>T	ENST00000295736.5	-	6	638	c.568G>A	c.(568-570)Gta>Ata	p.V190I	SLC4A7_ENST00000435667.2_Missense_Mutation_p.V199I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.V195I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V190I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000388777.4_5'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	190					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)	TTGTCTAATACCATATCTATT	0.333																																						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.(568-570)Gta>Ata		solute carrier family 4, sodium bicarbonate cotransporter, member 7							99.0	100.0	99.0					3																	27475590		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.chr3:27475590C>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.568G>A	3.37:g.27475590C>T	ENSP00000295736:p.Val190Ile		Somatic				SLC4A7_ENST00000428386.1_Missense_Mutation_p.V190I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.V195I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V199I|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V195I	p.V190I	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			6	638	-			190					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.568G>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296851	0.40594	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.83	5.83	0.93111	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.182863	0.47455	D	0.000233	T	0.60090	0.2242	N	0.20807	0.61	0.58432	D	0.999999	B;B;B;B;P;B;B;P;B	0.38420	0.412;0.011;0.412;0.45;0.63;0.09;0.009;0.63;0.011	B;B;B;B;B;B;B;B;B	0.41666	0.238;0.075;0.238;0.363;0.273;0.124;0.045;0.273;0.075	T	0.57323	-0.7831	10	0.22706	T	0.39	.	15.5856	0.76479	0.0:0.8629:0.1371:0.0	.	199;195;195;199;199;195;190;190;195	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	I	190;190;199;199;195;195;195;199;199;195;190	ENSP00000295736:V190I;ENSP00000416368:V190I;ENSP00000390394:V199I;ENSP00000414797:V199I;ENSP00000394252:V195I;ENSP00000406605:V195I;ENSP00000407382:V195I;ENSP00000406804:V199I;ENSP00000395336:V199I;ENSP00000401949:V195I;ENSP00000388703:V190I	ENSP00000295736:V190I	V	-	1	0	SLC4A7	27450594	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.206000	0.51098	2.747000	0.94245	0.585000	0.79938	GTA		0.333	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	46	0	0	0	1	0	4	46				
CRISPLD2	83716	broad.mit.edu	37	16	84911069	84911069	+	Silent	SNP	C	C	T	rs376028067		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:84911069C>T	ENST00000262424.5	+	12	1406	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	CRISPLD2_ENST00000564567.1_Silent_p.T394T|CRISPLD2_ENST00000567845.1_Silent_p.T393T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	394	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTACACGACCGTTGCTCAGC	0.552																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1180-1182)acC>acT		cysteine-rich secretory protein LCCL domain containing 2		C		1,4397	2.1+/-5.4	0,1,2198	158.0	121.0	133.0		1182	-10.2	0.0	16		133	0,8600		0,0,4300	no	coding-synonymous	CRISPLD2	NM_031476.3		0,1,6498	TT,TC,CC		0.0,0.0227,0.0077		394/498	84911069	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84911069C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1182C>T	16.37:g.84911069C>T			Somatic				CRISPLD2_ENST00000567845.1_Silent_p.T393T|CRISPLD2_ENST00000564567.1_Silent_p.T394T	p.T394T	NM_031476.3	NP_113664.1	WXS	Illumina GAIIx	Phase_I	Q9H0B8	CRLD2_HUMAN			12	1406	+			394			LCCL 2.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.1182C>T	CCDS10949.1																																																																																				0.552	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		4	408	0	0	0	1	0	4	408				
ADAM29	11086	broad.mit.edu	37	4	175898913	175898913	+	Missense_Mutation	SNP	C	C	T	rs142711835		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:175898913C>T	ENST00000359240.3	+	5	2907	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M|ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	746	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T746M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACGCCTTCCCAG	0.537																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			2	Substitution - Missense(2)	p.T746M(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(2236-2238)aCg>aTg		ADAM metallopeptidase domain 29							149.0	132.0	138.0					4																	175898913		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898913C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2237C>T	4.37:g.175898913C>T	ENSP00000352177:p.Thr746Met		Somatic				RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M	p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	WXS	Illumina GAIIx	Phase_I	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2907	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	746			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2237C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866447	0.17250	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	1.54	0.582	0.17412	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.45998	0.5	T	0.53005	-0.8499	8	.	.	.	.	6.1783	0.20457	0.0:0.802:0.0:0.198	.	746	Q9UKF5	ADA29_HUMAN	M	746	ENSP00000352177:T746M;ENSP00000414544:T746M;ENSP00000384229:T746M;ENSP00000423517:T746M	.	T	+	2	0	ADAM29	176135488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.798000	0.04565	-0.059000	0.13154	0.478000	0.44815	ACG		0.537	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				7	690	0	0	0	1	0	7	690				
TSSK3	81629	broad.mit.edu	37	1	32829664	32829664	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:32829664G>A	ENST00000373534.3	+	2	1119	c.614G>A	c.(613-615)tGt>tAt	p.C205Y	FAM229A_ENST00000415596.1_Intron|FAM229A_ENST00000432622.1_5'Flank	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GTCATGCTCTGTGCCAGCCTA	0.567																																						ENST00000373534.3																			0				NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15						c.(613-615)tGt>tAt		testis-specific serine kinase 3							185.0	162.0	170.0					1																	32829664		2203	4300	6503	SO:0001583	missense	81629				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:32829664G>A	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.614G>A	1.37:g.32829664G>A	ENSP00000362634:p.Cys205Tyr		Somatic				FAM229A_ENST00000415596.1_Intron	p.C205Y	NM_052841.3	NP_443073.1	WXS	Illumina GAIIx	Phase_I	Q96PN8	TSSK3_HUMAN			2	1119	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	205			Protein kinase.		Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	c.614G>A	CCDS362.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397485	0.25205	.	.	ENSG00000162526	ENST00000373534	T	0.24538	1.85	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	L	0.38953	1.18	0.80722	D	1	P	0.42248	0.774	P	0.44897	0.463	T	0.02691	-1.1123	10	0.87932	D	0	.	18.4173	0.90575	0.0:0.0:1.0:0.0	.	205	Q96PN8	TSSK3_HUMAN	Y	205	ENSP00000362634:C205Y	ENSP00000362634:C205Y	C	+	2	0	TSSK3	32602251	0.889000	0.30405	1.000000	0.80357	0.998000	0.95712	2.479000	0.45197	2.775000	0.95449	0.655000	0.94253	TGT		0.567	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1			6	759	0	0	0	1	0	6	759				
KALRN	8997	broad.mit.edu	37	3	124053195	124053195	+	Silent	SNP	C	C	G	rs368796122		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:124053195C>G	ENST00000240874.3	+	9	1651	c.1494C>G	c.(1492-1494)gcC>gcG	p.A498A	KALRN_ENST00000360013.3_Silent_p.A498A|KALRN_ENST00000460856.1_Silent_p.A498A	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	498					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGGCCACAGCCAACTACTCCA	0.607																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1492-1494)gcC>gcG		kalirin, RhoGEF kinase		C	,	0,4406		0,0,2203	90.0	91.0	91.0		1494,1494	5.0	1.0	3		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KALRN	NM_001024660.3,NM_003947.4	,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,	498/2987,498/1664	124053195	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053195C>G	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1494C>G	3.37:g.124053195C>G			Somatic				KALRN_ENST00000460856.1_Silent_p.A498A|KALRN_ENST00000240874.3_Silent_p.A498A	p.A498A	NM_001024660.3	NP_001019831.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			9	1621	+			498					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1494C>G	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377017	0.24857	0.0	1.16E-4	ENSG00000160145	ENST00000354186	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	T	0.58552	0.2130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55309	-0.8161	4	.	.	.	.	8.6137	0.33817	0.1639:0.7556:0.0:0.0805	.	.	.	.	R	476	.	.	P	+	2	0	KALRN	125535885	0.988000	0.35896	1.000000	0.80357	0.980000	0.70556	0.294000	0.19047	2.735000	0.93741	0.655000	0.94253	CCA		0.607	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		6	392	0	0	0	1	0	6	392				
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_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		4	274	0	0	0	1	0	4	274				
RAD54L2	23132	broad.mit.edu	37	3	51667705	51667705	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:51667705T>A	ENST00000409535.2	+	7	1063	c.938T>A	c.(937-939)tTg>tAg	p.L313*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.L7*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	313	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGGAAAACTTTGCAAGTGATC	0.512																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(937-939)tTg>tAg		RAD54-like 2 (S. cerevisiae)							101.0	106.0	104.0					3																	51667705		2203	4300	6503	SO:0001587	stop_gained	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51667705T>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.938T>A	3.37:g.51667705T>A	ENSP00000386520:p.Leu313*		Somatic				RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.L7*	p.L313*	NM_015106.2	NP_055921.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	7	1063	+			313			Helicase ATP-binding.		Q8TB57|Q9BV54	Nonsense_Mutation	SNP	ENST00000409535.2	37	c.938T>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	40|40	7.941851|7.941851	0.98574|0.98574	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535;ENST00000296477	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.068615	.|0.64402	.|D	.|0.000012	T|.	0.37073|.	0.0990|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35943|.	-0.9768|.	3|.	.|0.02654	.|T	.|1	-4.9891|-4.9891	14.8726|14.8726	0.70471|0.70471	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	L|X	141|313;7	.|.	.|ENSP00000296477:L7X	F|L	+|+	3|2	2|0	RAD54L2|RAD54L2	51642745|51642745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	8.036000|8.036000	0.88901|0.88901	2.103000|2.103000	0.63969|0.63969	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.512	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		48	77	0	0	0	1	0	48	77				
LYG1	129530	broad.mit.edu	37	2	99907706	99907706	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:99907706C>G	ENST00000409448.1	-	6	643	c.327G>C	c.(325-327)atG>atC	p.M109I	LYG1_ENST00000308528.4_Missense_Mutation_p.M109I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	109					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TTACCTGCACCATGCTAGTCC	0.498																																						ENST00000409448.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(325-327)atG>atC		lysozyme G-like 1							150.0	124.0	133.0					2																	99907706		2203	4300	6503	SO:0001583	missense	129530				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99907706C>G	BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.327G>C	2.37:g.99907706C>G	ENSP00000386923:p.Met109Ile		Somatic				LYG1_ENST00000308528.4_Missense_Mutation_p.M109I	p.M109I			WXS	Illumina GAIIx	Phase_I	Q8N1E2	LYG1_HUMAN			6	643	-			109					Q53RV9	Missense_Mutation	SNP	ENST00000409448.1	37	c.327G>C	CCDS2043.1	.	.	.	.	.	.	.	.	.	.	C	6.064	0.380170	0.11466	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.6	2.76	0.32466	Lysozyme-like domain (1);	0.956807	0.08660	N	0.912645	T	0.16085	0.0387	N	0.04508	-0.205	0.21740	N	0.999563	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	8	.	.	.	-0.0045	5.4963	0.16805	0.2109:0.6861:0.0:0.1029	.	109	Q8N1E2	LYG1_HUMAN	I	109	.	.	M	-	3	0	LYG1	99274138	0.005000	0.15991	0.229000	0.23960	0.016000	0.09150	0.125000	0.15749	0.639000	0.30564	0.655000	0.94253	ATG		0.498	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	NM_174898		44	341	0	0	0	1	0	44	341				
BRINP2	57795	broad.mit.edu	37	1	177249921	177249921	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:177249921C>T	ENST00000361539.4	+	8	1921	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	537					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAATGACATGCGGCTGGGCAG	0.557																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1609-1611)Cgg>Tgg									44.0	38.0	40.0					1																	177249921		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249921C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1609C>T	1.37:g.177249921C>T	ENSP00000354481:p.Arg537Trp		Somatic				FAM5B_ENST00000478325.1_3'UTR	p.R537W	NM_021165.2	NP_066988.1	WXS	Illumina GAIIx	Phase_I	Q9C0B6	FAM5B_HUMAN			8	1921	+			537					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1609C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357216	0.61293	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.21543	2.0	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.49380	-0.8946	10	0.87932	D	0	-12.0386	13.6412	0.62253	0.1549:0.8451:0.0:0.0	.	432;537	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	290;537	ENSP00000354481:R537W	ENSP00000354481:R537W	R	+	1	2	FAM5B	175516544	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	3.698000	0.54771	2.514000	0.84764	0.313000	0.20887	CGG		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		33	58	0	0	0	1	0	33	58				
CNNM4	26504	broad.mit.edu	37	2	97475200	97475200	+	Silent	SNP	T	T	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:97475200T>G	ENST00000377075.2	+	7	2372	c.2274T>G	c.(2272-2274)ctT>ctG	p.L758L	CNNM4_ENST00000540067.1_3'UTR|RP11-353K11.1_ENST00000608609.1_lincRNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	758					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCACAACTCTTCTCAACGAGC	0.622																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(2272-2274)ctT>ctG		cyclin M4							119.0	94.0	103.0					2																	97475200		2203	4300	6503	SO:0001819	synonymous_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97475200T>G	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2274T>G	2.37:g.97475200T>G			Somatic				CNNM4_ENST00000540067.1_3'UTR	p.L758L	NM_020184.3	NP_064569.3	WXS	Illumina GAIIx	Phase_I	Q6P4Q7	CNNM4_HUMAN			7	2372	+			758					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	c.2274T>G	CCDS2024.2																																																																																				0.622	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		8	76	0	0	0	1	0	8	76				
CDH3	1001	broad.mit.edu	37	16	68718631	68718631	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:68718631C>T	ENST00000264012.4	+	10	1872	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	CDH3_ENST00000581171.1_Missense_Mutation_p.P388L|CDH3_ENST00000429102.2_Missense_Mutation_p.P443L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTGTCCCACCCTCCAAAGTC	0.557																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1327-1329)cCc>cTc		cadherin 3, type 1, P-cadherin (placental)							154.0	153.0	153.0					16																	68718631		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718631C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1328C>T	16.37:g.68718631C>T	ENSP00000264012:p.Pro443Leu		Somatic				CDH3_ENST00000429102.2_Missense_Mutation_p.P443L|CDH3_ENST00000581171.1_Missense_Mutation_p.P388L	p.P443L	NM_001793.4	NP_001784.2	WXS	Illumina GAIIx	Phase_I	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1872	+		Ovarian(137;0.0564)	443			Cadherin 4.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.1328C>T	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876443	0.33162	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.60920	0.15;0.15	5.46	4.51	0.55191	Cadherin (2);Cadherin-like (1);	0.000000	0.41194	D	0.000938	T	0.56601	0.1996	M	0.82323	2.585	0.30785	N	0.7416	B	0.25048	0.117	B	0.26202	0.067	T	0.56673	-0.7940	10	0.20519	T	0.43	.	8.4985	0.33144	0.0:0.8245:0.0:0.1755	.	443	P22223	CADH3_HUMAN	L	443;443;388	ENSP00000398485:P443L;ENSP00000264012:P443L	ENSP00000264012:P443L	P	+	2	0	CDH3	67276132	0.004000	0.15560	0.795000	0.32087	0.768000	0.43524	0.526000	0.22971	1.313000	0.45069	0.561000	0.74099	CCC		0.557	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		6	213	0	0	0	1	0	6	213				
ATP6V0A1	535	broad.mit.edu	37	17	40630546	40630546	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40630546G>T	ENST00000343619.4	+	7	695	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	191					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.C191F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGCGGGTATGCCGGGGAAAT	0.532																																						ENST00000343619.4																			2	Substitution - Missense(2)	p.C191F(2)	lung(1)|kidney(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(571-573)tGc>tTc		ATPase, H+ transporting, lysosomal V0 subunit a1							109.0	93.0	98.0					17																	40630546		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40630546G>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.572G>T	17.37:g.40630546G>T	ENSP00000342951:p.Cys191Phe		Somatic				ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F	p.C191F	NM_001130021.1	NP_001123493.1	WXS	Illumina GAIIx	Phase_I	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	7	695	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	191					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.572G>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116508	0.94385	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.81614	2.55	0.80722	D	1	D;P;P;D;P	0.89917	1.0;0.93;0.572;1.0;0.839	D;P;P;D;P	0.97110	1.0;0.819;0.649;0.999;0.601	D	0.93817	0.7115	10	0.66056	D	0.02	-20.9064	20.3931	0.98965	0.0:0.0:1.0:0.0	.	148;148;198;191;191	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	F	191;191;191;198;148	ENSP00000342951:C191F;ENSP00000444676:C191F;ENSP00000377415:C191F;ENSP00000264649:C198F;ENSP00000443991:C148F	ENSP00000264649:C198F	C	+	2	0	ATP6V0A1	37884072	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.894000	0.87336	2.824000	0.97209	0.655000	0.94253	TGC		0.532	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		8	151	1	0	2.17888e-05	1	2.29315e-05	8	151				
CCDC24	149473	broad.mit.edu	37	1	44461642	44461642	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:44461642T>A	ENST00000372318.3	+	9	905	c.734T>A	c.(733-735)cTc>cAc	p.L245H	CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	245										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACACAGGGCCTCAGACCCCCG	0.642																																						ENST00000372318.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(733-735)cTc>cAc		coiled-coil domain containing 24							91.0	98.0	96.0					1																	44461642		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44461642T>A		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.734T>A	1.37:g.44461642T>A	ENSP00000361392:p.Leu245His		Somatic				SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	p.L245H	NM_152499.1	NP_689712.1	WXS	Illumina GAIIx	Phase_I	Q8N4L8	CCD24_HUMAN			9	905	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	245					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.734T>A	CCDS507.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.847050	0.32606	.	.	ENSG00000159214	ENST00000372318	.	.	.	4.78	-0.808	0.10868	.	0.410133	0.17781	N	0.162256	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	0.999998	B;B	0.20261	0.043;0.043	B;B	0.23018	0.043;0.043	T	0.10800	-1.0614	9	0.40728	T	0.16	-34.6466	3.7519	0.08570	0.1553:0.294:0.0:0.5507	.	209;245	Q8N4L8-2;Q8N4L8	.;CCD24_HUMAN	H	245	.	ENSP00000361392:L245H	L	+	2	0	CCDC24	44234229	0.000000	0.05858	0.000000	0.03702	0.635000	0.38103	-0.246000	0.08878	-0.344000	0.08338	0.421000	0.28195	CTC		0.642	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		28	118	0	0	0	1	0	28	118				
A2ML1	144568	broad.mit.edu	37	12	8990081	8990081	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:8990081G>A	ENST00000299698.7	+	8	954	c.774G>A	c.(772-774)gtG>gtA	p.V258V		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGGTATCTGTGTGTCAGAAGG	0.473																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(772-774)gtG>gtA		alpha-2-macroglobulin-like 1							105.0	108.0	107.0					12																	8990081		2140	4258	6398	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8990081G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.774G>A	12.37:g.8990081G>A			Somatic					p.V258V	NM_144670.4	NP_653271.2	WXS	Illumina GAIIx	Phase_I	B3KVV6	B3KVV6_HUMAN			8	954	+			102						Silent	SNP	ENST00000299698.7	37	c.774G>A	CCDS8596.2																																																																																				0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		12	431	0	0	0	1	0	12	431				
TRIM45	80263	broad.mit.edu	37	1	117663515	117663515	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:117663515C>T	ENST00000256649.4	-	1	835	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TRIM45_ENST00000369464.3_Silent_p.L103L|TRIM45_ENST00000369461.3_Silent_p.L46L	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	103					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACCCATGGGCAGGTCCACCT	0.557																																						ENST00000256649.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23						c.(307-309)ctG>ctA		tripartite motif containing 45							98.0	82.0	88.0					1																	117663515		2203	4300	6503	SO:0001819	synonymous_variant	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663515C>T		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.309G>A	1.37:g.117663515C>T			Somatic				TRIM45_ENST00000369461.3_Silent_p.L46L|TRIM45_ENST00000369464.3_Silent_p.L103L	p.L103L	NM_025188.3	NP_079464.2	WXS	Illumina GAIIx	Phase_I	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	1	835	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	103					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	c.309G>A	CCDS893.1																																																																																				0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		4	193	0	0	0	1	0	4	193				
PCDHGC3	5098	broad.mit.edu	37	5	140857924	140857924	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:140857924G>A	ENST00000308177.3	+	1	2345	c.2241G>A	c.(2239-2241)gtG>gtA	p.V747V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	747					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACGCCGTGCGGGGAGGCC	0.602											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2239-2241)gtG>gtA									66.0	82.0	77.0					5																	140857924		2202	4299	6501	SO:0001819	synonymous_variant	5098							g.chr5:140857924G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2241G>A	5.37:g.140857924G>A			Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V747V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2345	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.2241G>A	CCDS4261.1																																																																																				0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		12	116	0	0	0	1	0	12	116				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106|rs553572799	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	137	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667																																						ENST00000391417.4																			3	Unknown(1)|Substitution - coding silent(1)|Deletion - In frame(1)	p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)	NS(2)|prostate(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(334-336)ccC>ccA		keratin associated protein 4-7							13.0	14.0	14.0					17																	39240794		691	1589	2280	SO:0001819	synonymous_variant	100132476							g.chr17:39240794C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.336C>A	17.37:g.39240794C>A			Somatic					p.P112P	NM_033061.3	NP_149050.3	WXS	Illumina GAIIx	Phase_I					1	336	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.336C>A	CCDS45673.1																																																																																				0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			6	4	1	0	0.00448238	1	0.00460477	6	4				
WDR3	10885	broad.mit.edu	37	1	118497233	118497233	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:118497233G>A	ENST00000349139.5	+	23	2439	c.2392G>A	c.(2392-2394)Gct>Act	p.A798T	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	798						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CATCCTAATGGCTTATGGCAG	0.353																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(2392-2394)Gct>Act		WD repeat domain 3							139.0	137.0	138.0					1																	118497233		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118497233G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2392G>A	1.37:g.118497233G>A	ENSP00000308179:p.Ala798Thr		Somatic				SPAG17_ENST00000336338.5_Intron	p.A798T	NM_006784.2	NP_006775.1	WXS	Illumina GAIIx	Phase_I	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	23	2439	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	798						Missense_Mutation	SNP	ENST00000349139.5	37	c.2392G>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261035	0.95368	.	.	ENSG00000065183	ENST00000349139	T	0.58210	0.35	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.80425	-0.1388	10	0.59425	D	0.04	-18.1302	19.8338	0.96646	0.0:0.0:1.0:0.0	.	798	Q9UNX4	WDR3_HUMAN	T	798	ENSP00000308179:A798T	ENSP00000308179:A798T	A	+	1	0	WDR3	118298756	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.253000	0.89842	2.754000	0.94517	0.603000	0.83216	GCT		0.353	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		4	154	0	0	0	1	0	4	154				
PCDH7	5099	broad.mit.edu	37	4	30724623	30724623	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:30724623G>T	ENST00000361762.2	+	1	2587	c.1579G>T	c.(1579-1581)Gac>Tac	p.D527Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D527Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	527	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAAGGTGGGAGACACCAACGA	0.622																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1579-1581)Gac>Tac		protocadherin 7							59.0	54.0	56.0					4																	30724623		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724623G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1579G>T	4.37:g.30724623G>T	ENSP00000355243:p.Asp527Tyr		Somatic				PCDH7_ENST00000543491.1_Missense_Mutation_p.D527Y	p.D527Y	NM_002589.2	NP_002580.2	WXS	Illumina GAIIx	Phase_I	O60245	PCDH7_HUMAN			1	2587	+			527			Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1579G>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060643|3.060643	0.55432|0.55432	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.74632|.	-0.86;-0.86|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.90920|0.90920	0.7146|0.7146	H|H	0.98682|0.98682	4.3|4.3	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.94122|0.94122	0.7380|0.7380	9|5	0.87932|.	D|.	0|.	.|.	19.0611|19.0611	0.93093|0.93093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	527;480;527|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	Y|I	527;527;480|216	ENSP00000355243:D527Y;ENSP00000441802:D527Y|.	ENSP00000330302:D480Y|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30333721|30333721	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.606000|0.606000	0.37113|0.37113	9.657000|9.657000	0.98554|0.98554	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.622	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	36	1	0	1.23904e-05	1	1.31321e-05	4	36				
PPP1R12A	4659	broad.mit.edu	37	12	80199977	80199977	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:80199977T>C	ENST00000450142.2	-	13	2058	c.1792A>G	c.(1792-1794)Acg>Gcg	p.T598A	PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T511A|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T598A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T598A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	598	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAAGAACCCGTTGTAATCTTT	0.453																																						ENST00000450142.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						c.(1792-1794)Acg>Gcg		protein phosphatase 1, regulatory subunit 12A							302.0	286.0	291.0					12																	80199977		1948	4159	6107	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80199977T>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1792A>G	12.37:g.80199977T>C	ENSP00000389168:p.Thr598Ala		Somatic				PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T598A|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T511A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T598A	p.T598A	NM_002480.2	NP_002471.1	WXS	Illumina GAIIx	Phase_I	O14974	MYPT1_HUMAN			13	2058	-			598			Ser/Thr-rich.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1792A>G	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926528	0.34002	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000547330	T;T;T;T;T	0.38722	1.3;1.3;1.3;1.32;1.12	5.62	3.23	0.37069	.	0.279613	0.41097	D	0.000943	T	0.21186	0.0510	N	0.19112	0.55	0.39593	D	0.969619	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.08764	-1.0706	10	0.07990	T	0.79	.	5.7512	0.18148	0.0:0.1457:0.1484:0.7059	.	598;598;598	F8W8Q6;O14974-2;O14974	.;.;MYPT1_HUMAN	A	598;598;598;598;598;598;511;598	ENSP00000261207:T598A;ENSP00000389168:T598A;ENSP00000416769:T598A;ENSP00000449514:T511A;ENSP00000446816:T598A	ENSP00000261207:T598A	T	-	1	0	PPP1R12A	78724108	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.393000	0.34497	0.399000	0.25367	0.482000	0.46254	ACG		0.453	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		5	890	0	0	0	1	0	5	890				
CNOT11	55571	broad.mit.edu	37	2	101889409	101889409	+	IGR	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:101889409A>G	ENST00000289382.3	+	0	2599				RNF149_ENST00000485752.1_5'Flank|SNORD89_ENST00000390981.1_RNA	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11						cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CTGAGGTCAGACTAGTGGTTC	0.443																																						ENST00000390981.1																			0																				122.0	102.0	108.0					2																	101889409		876	1991	2867	SO:0001628	intergenic_variant	692205							g.chr2:101889409A>G	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686		2.37:g.101889409A>G			Somatic						NR_003070.1		WXS	Illumina GAIIx	Phase_I					0	102	-								Q6P2M9|Q8N681	RNA	SNP	ENST00000289382.3	37		CCDS2050.1																																																																																				0.443	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		119	251	0	0	0	1	0	119	251				
ANK2	287	broad.mit.edu	37	4	114213643	114213643	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:114213643T>C	ENST00000357077.4	+	21	2402	c.2349T>C	c.(2347-2349)caT>caC	p.H783H	ANK2_ENST00000394537.3_Silent_p.H783H|ANK2_ENST00000509550.1_5'Flank|ANK2_ENST00000264366.6_Silent_p.H783H|ANK2_ENST00000506722.1_Silent_p.H762H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	783					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCTCCAGCATGGGGCCAAGC	0.617																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(2347-2349)caT>caC		ankyrin 2, neuronal							56.0	40.0	45.0					4																	114213643		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114213643T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2349T>C	4.37:g.114213643T>C			Somatic				ANK2_ENST00000506722.1_Silent_p.H762H|ANK2_ENST00000394537.3_Silent_p.H783H|ANK2_ENST00000264366.6_Silent_p.H783H	p.H783H	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	21	2402	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	783					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.2349T>C	CCDS3702.1																																																																																				0.617	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		25	37	0	0	0	1	0	25	37				
FMO5	2330	broad.mit.edu	37	1	146684015	146684015	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:146684015G>A	ENST00000254090.4	-	5	964	c.576C>T	c.(574-576)ggC>ggT	p.G192G	FMO5_ENST00000441068.2_Silent_p.G192G|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000369272.3_Silent_p.G192G	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	192						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AATTCCCAATGCCAATTATAA	0.423																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.(574-576)ggC>ggT		flavin containing monooxygenase 5							125.0	126.0	126.0					1																	146684015		2203	4300	6503	SO:0001819	synonymous_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146684015G>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.576C>T	1.37:g.146684015G>A			Somatic				FMO5_ENST00000369272.3_Silent_p.G192G|FMO5_ENST00000441068.2_Silent_p.G192G|FMO5_ENST00000465173.1_5'UTR	p.G192G	NM_001461.2	NP_001452.2	WXS	Illumina GAIIx	Phase_I	P49326	FMO5_HUMAN			5	964	-	all_hematologic(923;0.0487)		192					B2RBG1|C9JJD1|Q8IV22	Silent	SNP	ENST00000254090.4	37	c.576C>T	CCDS926.1																																																																																				0.423	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		4	213	0	0	0	1	0	4	213				
DMD	1756	broad.mit.edu	37	X	31747808	31747808	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:31747808C>G	ENST00000357033.4	-	52	7806	c.7600G>C	c.(7600-7602)Gcc>Ccc	p.A2534P	DMD_ENST00000474231.1_Missense_Mutation_p.A74P|DMD_ENST00000378707.3_Missense_Mutation_p.A74P|DMD_ENST00000378677.2_Missense_Mutation_p.A2530P|DMD_ENST00000343523.2_Missense_Mutation_p.A74P|DMD_ENST00000541735.1_Missense_Mutation_p.A74P|DMD_ENST00000359836.1_Missense_Mutation_p.A74P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2534					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATTTTGGGCAGCGGTAATG	0.423																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7600-7602)Gcc>Ccc		dystrophin							228.0	194.0	206.0					X																	31747808		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31747808C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7600G>C	X.37:g.31747808C>G	ENSP00000354923:p.Ala2534Pro		Somatic				DMD_ENST00000378707.3_Missense_Mutation_p.A74P|DMD_ENST00000343523.2_Missense_Mutation_p.A74P|DMD_ENST00000378677.2_Missense_Mutation_p.A2530P|DMD_ENST00000359836.1_Missense_Mutation_p.A74P|DMD_ENST00000474231.1_Missense_Mutation_p.A74P|DMD_ENST00000541735.1_Missense_Mutation_p.A74P	p.A2534P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			52	7806	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2534					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7600G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.055059|5.055059	0.93793|0.93793	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.34725|.	U|.	0.003735|.	T|T	0.77336|0.77336	0.4115|0.4115	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.997;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.998|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.991;0.999;0.998;0.999;0.999;0.997;1.0;1.0;0.998;0.994|.	T|T	0.78074|0.78074	-0.2346|-0.2346	10|5	0.54805|.	T|.	0.06|.	.|.	18.1287|18.1287	0.89595|0.89595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2526;2534;2530;1193;1190;74;74;74;74;74|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.|.	P|S	2526;1193;1190;230;2530;2534;74;74;2534;2411;74;74;74|262	ENSP00000350765:A230P;ENSP00000367948:A2530P;ENSP00000354923:A2534P;ENSP00000352894:A74P;ENSP00000340057:A74P;ENSP00000367979:A74P;ENSP00000444119:A74P;ENSP00000417123:A74P|.	ENSP00000340057:A74P|.	A|C	-|-	1|2	0|0	DMD|DMD	31657729|31657729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.586000|6.586000	0.74067|0.74067	2.304000|2.304000	0.77564|0.77564	0.506000|0.506000	0.49869|0.49869	GCC|TGC		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		19	148	0	0	0	1	0	19	148				
AMDHD2	51005	broad.mit.edu	37	16	2578322	2578322	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:2578322C>T	ENST00000293971.6	+	7	897	c.803C>T	c.(802-804)gCa>gTa	p.A268V	AMDHD2_ENST00000302956.4_Missense_Mutation_p.A268V|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A268V	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	268					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGGATGATTGCAGATGGCACG	0.687																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(802-804)gCa>gTa		amidohydrolase domain containing 2							37.0	44.0	42.0					16																	2578322		2196	4298	6494	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2578322C>T	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.803C>T	16.37:g.2578322C>T	ENSP00000293971:p.Ala268Val		Somatic				CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A268V|AMDHD2_ENST00000293971.6_Missense_Mutation_p.A268V	p.A268V			WXS	Illumina GAIIx	Phase_I	Q9Y303	NAGA_HUMAN			7	897	+			268					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.803C>T		.	.	.	.	.	.	.	.	.	.	C	14.90	2.674814	0.47781	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;D	0.99928	-8.1;-8.1;-8.1	5.51	5.51	0.81932	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.153219	0.56097	D	0.000021	D	0.99799	0.9914	L	0.56280	1.765	0.80722	D	1	P;B;P	0.37466	0.538;0.279;0.596	P;B;B	0.46758	0.526;0.3;0.202	D	0.99890	1.1132	10	0.25106	T	0.35	-14.2456	17.9845	0.89152	0.0:1.0:0.0:0.0	.	268;268;268	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	V	268	ENSP00000391596:A268V;ENSP00000307481:A268V;ENSP00000293971:A268V	ENSP00000293971:A268V	A	+	2	0	AMDHD2	2518323	1.000000	0.71417	0.032000	0.17829	0.005000	0.04900	7.564000	0.82326	2.582000	0.87167	0.655000	0.94253	GCA		0.687	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		10	33	0	0	0	1	0	10	33				
PYGB	5834	broad.mit.edu	37	20	25239951	25239951	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:25239951G>T	ENST00000216962.4	+	2	432	c.322G>T	c.(322-324)Gcc>Tcc	p.A108S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	108					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.A108S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CCTTCAGAATGCCTGCGATGA	0.522																																						ENST00000216962.4																			1	Substitution - Missense(1)	p.A108S(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(322-324)Gcc>Tcc		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						108.0	105.0	106.0					20																	25239951		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25239951G>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.322G>T	20.37:g.25239951G>T	ENSP00000216962:p.Ala108Ser		Somatic					p.A108S	NM_002862.3	NP_002853.2	WXS	Illumina GAIIx	Phase_I	P11216	PYGB_HUMAN			2	432	+			108					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.322G>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940253	0.34283	.	.	ENSG00000100994	ENST00000216962	D	0.86030	-2.06	4.38	4.38	0.52667	.	0.114208	0.64402	D	0.000014	T	0.78805	0.4341	L	0.41906	1.305	0.48696	D	0.999691	B	0.06786	0.001	B	0.15052	0.012	T	0.72795	-0.4185	10	0.13470	T	0.59	-15.1187	16.214	0.82191	0.0:0.0:1.0:0.0	.	108	P11216	PYGB_HUMAN	S	108	ENSP00000216962:A108S	ENSP00000216962:A108S	A	+	1	0	PYGB	25187951	1.000000	0.71417	0.836000	0.33094	0.924000	0.55760	6.040000	0.70980	2.431000	0.82371	0.655000	0.94253	GCC		0.522	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		10	201	1	0	2.80697e-09	1	3.06123e-09	10	201				
CPED1	79974	broad.mit.edu	37	7	120906847	120906847	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:120906847A>C	ENST00000310396.5	+	20	3085	c.2618A>C	c.(2617-2619)cAc>cCc	p.H873P		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	873						endoplasmic reticulum (GO:0005783)											CAAATTATTCACAAAGTTTTG	0.353																																						ENST00000310396.5																			0											c.(2617-2619)cAc>cCc		cadherin-like and PC-esterase domain containing 1							140.0	128.0	132.0					7																	120906847		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120906847A>C		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.2618A>C	7.37:g.120906847A>C	ENSP00000309772:p.His873Pro		Somatic					p.H873P	NM_024913.4	NP_079189.4	WXS	Illumina GAIIx	Phase_I					20	3085	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2618A>C	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013099	0.54468	.	.	ENSG00000106034	ENST00000310396	T	0.17691	2.26	5.84	4.7	0.59300	.	0.197364	0.44483	D	0.000459	T	0.29321	0.0730	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	P	0.59115	0.852	T	0.01162	-1.1432	10	0.54805	T	0.06	-15.7526	11.3284	0.49463	0.9294:0.0:0.0706:0.0	.	873	A4D0V7	CG058_HUMAN	P	873	ENSP00000309772:H873P	ENSP00000309772:H873P	H	+	2	0	C7orf58	120694083	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.634000	0.54302	2.235000	0.73313	0.459000	0.35465	CAC		0.353	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		4	337	0	0	0	1	0	4	337				
ANK3	288	broad.mit.edu	37	10	61835234	61835234	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:61835234G>T	ENST00000280772.2	-	37	5596	c.5405C>A	c.(5404-5406)aCa>aAa	p.T1802K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1802	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCCAAGGGATGTATAGAGTGC	0.443																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5404-5406)aCa>aAa		ankyrin 3, node of Ranvier (ankyrin G)							126.0	133.0	130.0					10																	61835234		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835234G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5405C>A	10.37:g.61835234G>T	ENSP00000280772:p.Thr1802Lys		Somatic				ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.T1802K	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	5596	-			1802			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5405C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946113	0.53079	.	.	ENSG00000151150	ENST00000280772	T	0.63744	-0.06	5.54	5.54	0.83059	.	0.161216	0.29106	N	0.013133	T	0.59059	0.2166	L	0.44542	1.39	0.80722	D	1	B	0.31383	0.321	B	0.30943	0.122	T	0.60637	-0.7224	10	0.66056	D	0.02	.	19.5542	0.95335	0.0:0.0:1.0:0.0	.	1802	Q12955	ANK3_HUMAN	K	1802	ENSP00000280772:T1802K	ENSP00000280772:T1802K	T	-	2	0	ANK3	61505240	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.281000	0.72632	2.643000	0.89663	0.461000	0.40582	ACA		0.443	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	381	1	0	2.7689e-08	1	2.97656e-08	6	381				
C15orf27	123591	broad.mit.edu	37	15	76430098	76430098	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:76430098T>A	ENST00000388942.3	+	3	365	c.89T>A	c.(88-90)gTa>gAa	p.V30E		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	30					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCCAACAAGTAGACGAAGAA	0.527																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(88-90)gTa>gAa		chromosome 15 open reading frame 27							126.0	134.0	132.0					15																	76430098		1982	4160	6142	SO:0001583	missense	123591					integral to membrane		g.chr15:76430098T>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.89T>A	15.37:g.76430098T>A	ENSP00000373594:p.Val30Glu		Somatic					p.V30E	NM_152335.2	NP_689548.2	WXS	Illumina GAIIx	Phase_I	Q2M3C6	CO027_HUMAN			3	365	+			30					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.89T>A	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628231	0.66901	.	.	ENSG00000169758	ENST00000388942	T	0.45668	0.89	5.16	5.16	0.70880	.	0.122006	0.36374	N	0.002637	T	0.60418	0.2267	M	0.67953	2.075	0.52501	D	0.999952	D	0.89917	1.0	D	0.66979	0.948	T	0.64605	-0.6368	10	0.87932	D	0	-26.8617	13.0329	0.58854	0.0:0.0:0.0:1.0	.	30	Q2M3C6	CO027_HUMAN	E	30	ENSP00000373594:V30E	ENSP00000373594:V30E	V	+	2	0	C15orf27	74217153	1.000000	0.71417	0.929000	0.37066	0.443000	0.32047	5.443000	0.66581	2.061000	0.61500	0.533000	0.62120	GTA		0.527	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		7	419	0	0	0	1	0	7	419				
ASH1L	55870	broad.mit.edu	37	1	155450216	155450216	+	Silent	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:155450216G>C	ENST00000368346.3	-	3	3084	c.2445C>G	c.(2443-2445)gtC>gtG	p.V815V	ASH1L_ENST00000392403.3_Silent_p.V815V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	815					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTCACTAGAGACACACATAC	0.408																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(2443-2445)gtC>gtG		ash1 (absent, small, or homeotic)-like (Drosophila)							82.0	82.0	82.0					1																	155450216		2203	4299	6502	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450216G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2445C>G	1.37:g.155450216G>C			Somatic				ASH1L_ENST00000392403.3_Silent_p.V815V	p.V815V			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3084	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		815					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.2445C>G																																																																																					0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		66	180	0	0	0	1	0	66	180				
TBL1XR1	79718	broad.mit.edu	37	3	176769354	176769354	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:176769354C>T	ENST00000430069.1	-	5	624	c.365G>A	c.(364-366)gGa>gAa	p.G122E	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.G122E			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	122					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|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)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTTTGCAGATCCTTGTTGGCT	0.443																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(364-366)gGa>gAa		transducin (beta)-like 1 X-linked receptor 1							82.0	78.0	79.0					3																	176769354		1852	4097	5949	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769354C>T	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.365G>A	3.37:g.176769354C>T	ENSP00000405574:p.Gly122Glu		Somatic				TBL1XR1_ENST00000457928.2_Missense_Mutation_p.G122E	p.G122E			WXS	Illumina GAIIx	Phase_I	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	624	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	122					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.365G>A	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	4.351	0.064579	0.08388	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421	T;T	0.49720	0.77;0.77	5.52	5.52	0.82312	.	0.054083	0.64402	D	0.000001	T	0.33235	0.0856	L	0.34521	1.04	0.45852	D	0.998717	B	0.21309	0.054	B	0.18263	0.021	T	0.13150	-1.0520	10	0.02654	T	1	-6.4114	14.0919	0.64995	0.0:0.8497:0.1503:0.0	.	122	Q9BZK7	TBL1R_HUMAN	E	122;122;35;35;35;122;122;35	ENSP00000405574:G122E;ENSP00000413251:G122E	ENSP00000263964:G122E	G	-	2	0	TBL1XR1	178252048	0.598000	0.26882	0.985000	0.45067	0.780000	0.44128	2.962000	0.49176	2.609000	0.88269	0.557000	0.71058	GGA		0.443	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		34	34	0	0	0	1	0	34	34				
TAF2	6873	broad.mit.edu	37	8	120744304	120744304	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:120744304G>A	ENST00000378164.2	-	26	3758	c.3460C>T	c.(3460-3462)Cac>Tac	p.H1154Y		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1154	His-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTTCTTGTGCTCATGGTGA	0.458																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(3460-3462)Cac>Tac		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							406.0	358.0	374.0					8																	120744304		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120744304G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3460C>T	8.37:g.120744304G>A	ENSP00000367406:p.His1154Tyr		Somatic					p.H1154Y	NM_003184.3	NP_003175.1	WXS	Illumina GAIIx	Phase_I	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	3758	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1154			His-rich.		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3460C>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582466	0.86748	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.37411	2.22;1.2	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	L	0.27053	0.805	0.58432	D	0.999995	P	0.45126	0.851	P	0.55391	0.775	T	0.32587	-0.9901	10	0.72032	D	0.01	-14.9531	17.703	0.88301	0.0:0.0:1.0:0.0	.	1154	Q6P1X5	TAF2_HUMAN	Y	1154;330	ENSP00000367406:H1154Y;ENSP00000436750:H330Y	ENSP00000367406:H1154Y	H	-	1	0	TAF2	120813485	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.503000	0.81632	2.850000	0.98022	0.650000	0.86243	CAC		0.458	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		23	1285	0	0	0	1	0	23	1285				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			2679							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		6	31	0	0	0	1	0	6	31				
RIOK2	55781	broad.mit.edu	37	5	96503556	96503556	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:96503556C>T	ENST00000283109.3	-	8	1080	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	RIOK2_ENST00000508447.1_Missense_Mutation_p.D338N|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	338	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ACTTCTCCATCTGAAAATGAG	0.408																																						ENST00000283109.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23						c.(1012-1014)Gat>Aat		RIO kinase 2							151.0	157.0	155.0					5																	96503556		2203	4300	6503	SO:0001583	missense	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96503556C>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1012G>A	5.37:g.96503556C>T	ENSP00000283109:p.Asp338Asn		Somatic				RIOK2_ENST00000508447.1_Missense_Mutation_p.D338N|CTD-2215E18.1_ENST00000509481.1_Intron	p.D338N	NM_018343.2	NP_060813.2	WXS	Illumina GAIIx	Phase_I	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	8	1080	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	338			Protein kinase.		D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	c.1012G>A	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082078	0.36758	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.29142	1.58;1.58	5.35	4.43	0.53597	.	1.108030	0.06536	N	0.742344	T	0.31734	0.0806	M	0.63428	1.95	0.41831	D	0.990073	B;B	0.18741	0.03;0.026	B;B	0.14023	0.01;0.008	T	0.26292	-1.0107	10	0.22706	T	0.39	-1.5076	8.0406	0.30519	0.0:0.749:0.1622:0.0888	.	338;338	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	N	338	ENSP00000283109:D338N;ENSP00000420932:D338N	ENSP00000283109:D338N	D	-	1	0	RIOK2	96529312	0.156000	0.22821	1.000000	0.80357	0.154000	0.21943	0.267000	0.18552	2.658000	0.90341	0.460000	0.39030	GAT		0.408	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		87	260	0	0	0	1	0	87	260				
SLC35G2	80723	broad.mit.edu	37	3	136573749	136573749	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:136573749A>T	ENST00000446465.2	+	2	1075	c.447A>T	c.(445-447)ttA>ttT	p.L149F	SLC35G2_ENST00000393079.3_Missense_Mutation_p.L149F|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		TATCTGTGTTAGTTGTGTGTT	0.403																																						ENST00000446465.2																			0											c.(445-447)ttA>ttT		solute carrier family 35, member G2							208.0	193.0	198.0					3																	136573749		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573749A>T	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.447A>T	3.37:g.136573749A>T	ENSP00000400839:p.Leu149Phe		Somatic				RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.L149F|RP11-85F14.5_ENST00000470236.1_RNA	p.L149F	NM_025246.2	NP_079522.2	WXS	Illumina GAIIx	Phase_I	Q8TBE7	TMM22_HUMAN			2	1075	+			149			DUF6 1.			Missense_Mutation	SNP	ENST00000446465.2	37	c.447A>T	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.886059	0.33348	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.56611	0.45;0.45	5.57	0.0295	0.14163	Drug/metabolite transporter (1);	0.427253	0.22051	N	0.065309	T	0.30008	0.0751	N	0.24115	0.695	0.40383	D	0.979464	B	0.28850	0.225	B	0.30855	0.121	T	0.05146	-1.0903	10	0.37606	T	0.19	.	2.0342	0.03536	0.5329:0.1228:0.2248:0.1195	.	149	Q8TBE7	TMM22_HUMAN	F	149	ENSP00000400839:L149F;ENSP00000376794:L149F	ENSP00000376794:L149F	L	+	3	2	TMEM22	138056439	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	0.386000	0.24997	0.482000	0.46254	TTA		0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		7	546	0	0	0	1	0	7	546				
SLC5A11	115584	broad.mit.edu	37	16	24869990	24869990	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:24869990A>G	ENST00000347898.3	+	2	648	c.26A>G	c.(25-27)cAg>cGg	p.Q9R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000568579.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000565769.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.Q9R|SLC5A11_ENST00000539472.1_Intron	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGCAGCCCTCAGCCTCCACAG	0.557																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(25-27)cAg>cGg		solute carrier family 5 (sodium/inositol cotransporter), member 11							100.0	81.0	87.0					16																	24869990		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24869990A>G	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.26A>G	16.37:g.24869990A>G	ENSP00000289932:p.Gln9Arg		Somatic				SLC5A11_ENST00000545376.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.Q9R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000539472.1_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000565769.1_Intron|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000449109.2_Intron	p.Q9R	NM_052944.3	NP_443176.2	WXS	Illumina GAIIx	Phase_I	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	2	648	+			9						Missense_Mutation	SNP	ENST00000347898.3	37	c.26A>G	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	A	5.448	0.267682	0.10294	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376	D;D;D	0.86497	-1.99;-2.13;-2.11	5.59	-5.22	0.02806	.	0.908627	0.09681	N	0.769702	T	0.67173	0.2865	N	0.14661	0.345	0.09310	N	0.999996	B;B;B	0.26547	0.039;0.152;0.094	B;B;B	0.18871	0.007;0.023;0.01	T	0.54944	-0.8217	10	0.33940	T	0.23	.	1.5799	0.02632	0.1942:0.4026:0.1629:0.2402	.	9;9;9	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	R	9	ENSP00000289932:Q9R;ENSP00000416782:Q9R;ENSP00000441384:Q9R	ENSP00000289932:Q9R	Q	+	2	0	SLC5A11	24777491	0.000000	0.05858	0.018000	0.16275	0.343000	0.28985	-0.866000	0.04245	-0.518000	0.06452	0.459000	0.35465	CAG		0.557	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		19	74	0	0	0	1	0	19	74				
ZNF2	7549	broad.mit.edu	37	2	95846903	95846903	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:95846903A>G	ENST00000340539.5	+	5	792	c.330A>G	c.(328-330)tcA>tcG	p.S110S	ZNF2_ENST00000453539.2_Silent_p.S123S|ZNF2_ENST00000398107.2_Silent_p.S68S|ZNF2_ENST00000295210.6_Silent_p.S72S|ZNF2_ENST00000425369.1_Silent_p.S30S	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAGAAGGATCATTGAGGGAAT	0.448																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(202-204)tcA>tcG		zinc finger protein 2							98.0	96.0	97.0					2																	95846903		1887	4121	6008	SO:0001819	synonymous_variant	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95846903A>G	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.330A>G	2.37:g.95846903A>G			Somatic				ZNF2_ENST00000340539.5_Silent_p.S110S|ZNF2_ENST00000453539.2_Silent_p.S123S|ZNF2_ENST00000425369.1_Silent_p.S30S|ZNF2_ENST00000295210.6_Silent_p.S72S	p.S68S	NM_001017396.1	NP_001017396.1	WXS	Illumina GAIIx	Phase_I	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	726	+		Ovarian(717;0.00768)	110			KRAB.		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Silent	SNP	ENST00000340539.5	37	c.204A>G	CCDS42712.1																																																																																				0.448	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		6	252	0	0	0	1	0	6	252				
ZNF324	25799	broad.mit.edu	37	19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A	rs200934507		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:58982200G>A	ENST00000536459.2	+	4	1050	c.341G>A	c.(340-342)gGt>gAt	p.G114D	ZNF324_ENST00000535298.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.G114D			O75467	Z324A_HUMAN	zinc finger protein 324	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G114D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGTTGCCGGTGCCTGCCAC	0.567																																						ENST00000536459.2																			1	Substitution - Missense(1)	p.G114D(1)	endometrium(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(340-342)gGt>gAt		zinc finger protein 324							89.0	98.0	95.0					19																	58982200		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982200G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.341G>A	19.37:g.58982200G>A	ENSP00000444812:p.Gly114Asp		Somatic				ZNF324_ENST00000196482.3_Missense_Mutation_p.G114D	p.G114D			WXS	Illumina GAIIx	Phase_I	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1050	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	114					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.341G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	3.699	-0.062018	0.07317	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05199	3.48;3.48	3.29	-0.27	0.12926	.	0.444806	0.16783	N	0.199703	T	0.03915	0.0110	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.46512	-0.9186	10	0.11794	T	0.64	.	5.4243	0.16417	0.1191:0.3997:0.4812:0.0	.	114	O75467	Z324A_HUMAN	D	114;114;114;104	ENSP00000196482:G114D;ENSP00000444812:G114D	ENSP00000196482:G114D	G	+	2	0	ZNF324	63674012	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.427000	0.21379	0.051000	0.15978	0.555000	0.69702	GGT		0.567	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		4	72	0	0	0	1	0	4	72				
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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	256	0	0	0	1	0	6	256				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C			Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	p.L344L	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		9	324	0	0	0	1	0	9	324				
CCDC141	285025	broad.mit.edu	37	2	179730582	179730582	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:179730582C>T	ENST00000420890.2	-	17	2753	c.2636G>A	c.(2635-2637)aGc>aAc	p.S879N	CCDC141_ENST00000295723.5_Missense_Mutation_p.S304N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	879										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCACTTCATGCTGTCCTCCTC	0.517																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2635-2637)aGc>aAc		coiled-coil domain containing 141							269.0	246.0	254.0					2																	179730582		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730582C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2636G>A	2.37:g.179730582C>T	ENSP00000395995:p.Ser879Asn		Somatic				CCDC141_ENST00000295723.5_Missense_Mutation_p.S304N	p.S879N	NM_173648.3	NP_775919.3	WXS	Illumina GAIIx	Phase_I	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2753	-			304					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2636G>A		.	.	.	.	.	.	.	.	.	.	C	8.847	0.943576	0.18281	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.47528	0.84;1.36;1.36;1.38	6.07	2.25	0.28309	.	0.790052	0.11801	N	0.528149	T	0.25680	0.0625	N	0.19112	0.55	0.09310	N	1	B	0.21225	0.053	B	0.17722	0.019	T	0.23762	-1.0179	10	0.15499	T	0.54	2.0903	2.5574	0.04764	0.1199:0.5113:0.1161:0.2527	.	304	Q6ZP82	CC141_HUMAN	N	879;323;304;879	ENSP00000395995:S879N;ENSP00000344627:S323N;ENSP00000295723:S304N;ENSP00000390190:S879N	ENSP00000295723:S304N	S	-	2	0	CCDC141	179438827	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.230000	0.17852	0.142000	0.18901	-0.182000	0.12963	AGC		0.517	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		53	1631	0	0	0	1	0	53	1631				
DHX58	79132	broad.mit.edu	37	17	40262810	40262810	+	Silent	SNP	C	C	T	rs199844647		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40262810C>T	ENST00000251642.3	-	5	714	c.492G>A	c.(490-492)ctG>ctA	p.L164L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	164	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGAGACCCAGCACCTGGG	0.622																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(490-492)ctG>ctA		DEXH (Asp-Glu-X-His) box polypeptide 58							101.0	97.0	98.0					17																	40262810		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40262810C>T	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.492G>A	17.37:g.40262810C>T			Somatic					p.L164L	NM_024119.2	NP_077024.2	WXS	Illumina GAIIx	Phase_I	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	714	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	164			Helicase ATP-binding.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.492G>A	CCDS11416.1																																																																																				0.622	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		183	103	0	0	0	1	0	183	103				
CHD1	1105	broad.mit.edu	37	5	98228309	98228309	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:98228309T>C	ENST00000284049.3	-	14	2249	c.2100A>G	c.(2098-2100)aaA>aaG	p.K700K	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	700					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCCACATCTTTCTTAACTC	0.403																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(2098-2100)aaA>aaG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						133.0	135.0	134.0					5																	98228309		2202	4300	6502	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98228309T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2100A>G	5.37:g.98228309T>C			Somatic					p.K700K	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	14	2249	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	700					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.2100A>G	CCDS34204.1																																																																																				0.403	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		161	86	0	0	0	1	0	161	86				
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			4	Substitution - coding silent(4)	p.P391P(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1171-1173)ccG>ccA									144.0	139.0	140.0					5																	140263026		2203	4300	6503	SO:0001819	synonymous_variant	56136							g.chr5:140263026G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1173G>A	5.37:g.140263026G>A			Somatic				PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	p.P391P	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1173	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1173G>A	CCDS4240.1																																																																																				0.547	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		4	341	0	0	0	1	0	4	341				
MUC16	94025	broad.mit.edu	37	19	9018166	9018166	+	Missense_Mutation	SNP	A	A	G	rs202157654	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:9018166A>G	ENST00000397910.4	-	25	37975	c.37772T>C	c.(37771-37773)cTt>cCt	p.L12591P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12593	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						AGAGTACAGAAGGCCAACACT	0.532													N|||	5	0.000998403	0.0	0.0029	5008	,	,		18673	0.0		0.003	False		,,,				2504	0.0					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.(37771-37773)cTt>cCt		mucin 16, cell surface associated							164.0	140.0	148.0					19																	9018166		2017	4175	6192	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9018166A>G	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.37772T>C	19.37:g.9018166A>G	ENSP00000381008:p.Leu12591Pro		Somatic					p.L12591P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			25	37975	-			12593			SEA 4.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37772T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	5.851	0.341290	0.11069	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	1.86	-3.72	0.04411	.	.	.	.	.	T	0.04318	0.0119	N	0.00210	-1.845	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	8	0.87932	D	0	.	6.8216	0.23861	0.6827:0.0:0.3173:0.0	.	12591	B5ME49	.	P	12591	ENSP00000381008:L12591P	ENSP00000381008:L12591P	L	-	2	0	MUC16	8879166	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.989000	0.03736	-0.985000	0.03503	-1.232000	0.01568	CTT		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	1730	0	0	0	1	0	7	1730				
IGLON5	402665	broad.mit.edu	37	19	51828699	51828699	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:51828699T>C	ENST00000270642.8	+	4	491	c.491T>C	c.(490-492)gTc>gCc	p.V164A		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	164	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						GAGCCCACGGTCACCTGGAGA	0.642																																						ENST00000270642.8																			0				large_intestine(5)|lung(6)|prostate(1)	12						c.(490-492)gTc>gCc		IgLON family member 5							27.0	29.0	29.0					19																	51828699		1994	4152	6146	SO:0001583	missense	402665					extracellular region		g.chr19:51828699T>C		CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.491T>C	19.37:g.51828699T>C	ENSP00000270642:p.Val164Ala		Somatic					p.V164A	NM_001101372.1	NP_001094842.1	WXS	Illumina GAIIx	Phase_I	A6NGN9	IGLO5_HUMAN			4	491	+			164			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000270642.8	37	c.491T>C	CCDS46158.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471520	0.84533	.	.	ENSG00000142549	ENST00000270642	T	0.14893	2.47	3.74	3.74	0.42951	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.311695	0.29752	N	0.011289	T	0.28134	0.0694	M	0.80183	2.485	0.39306	D	0.964986	P	0.36837	0.571	B	0.42959	0.403	T	0.21280	-1.0250	10	0.87932	D	0	-21.8271	10.4633	0.44592	0.0:0.0:0.0:1.0	.	164	A6NGN9	IGLO5_HUMAN	A	164	ENSP00000270642:V164A	ENSP00000270642:V164A	V	+	2	0	IGLON5	56520511	1.000000	0.71417	0.992000	0.48379	0.728000	0.41692	7.198000	0.77823	1.572000	0.49736	0.383000	0.25322	GTC		0.642	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335149.1	NM_001101372		3	65	0	0	0	1	0	3	65				
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000503673.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.e12-1		retinoic acid induced 14							103.0	93.0	96.0					5																	34814686		2203	4300	6503	SO:0001630	splice_region_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814686A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.853-1A>T	5.37:g.34814686A>T			Somatic				RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site		NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			12	1139	+	all_lung(31;0.000191)							E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Splice_Site	SNP	ENST00000265109.3	37		CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147539	0.77888	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAI14	34850443	1.000000	0.71417	0.989000	0.46669	0.830000	0.47004	6.041000	0.70988	2.367000	0.80283	0.528000	0.53228	.		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	Intron	5	48	0	0	0	1	0	5	48				
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	lincRNA	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:120906203G>A	ENST00000427872.1	-	0	0				HIST2H2BA_ENST00000430394.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA																							CCCGACACCGGCATCTCGTCC	0.612																																						ENST00000430394.1																			0																																																			337875							g.chr1:120906203G>A																													1.37:g.120906203G>A			Somatic						NR_027337.1		WXS	Illumina GAIIx	Phase_I					0	176	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.612	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			5	600	0	0	0	1	0	5	600				
RNF14	9604	broad.mit.edu	37	5	141362998	141362998	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141362998A>G	ENST00000394520.2	+	7	1426	c.1117A>G	c.(1117-1119)Aga>Gga	p.R373G	RNF14_ENST00000394514.2_Missense_Mutation_p.R247G|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000540015.1_Missense_Mutation_p.R70G|RNF14_ENST00000356143.1_Missense_Mutation_p.R373G|RNF14_ENST00000394519.1_Missense_Mutation_p.R373G|RNF14_ENST00000394515.3_Missense_Mutation_p.R197G|RNF14_ENST00000347642.3_Missense_Mutation_p.R373G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	373	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GGCTAATAAAAGACTTTTGGA	0.373																																						ENST00000394520.2																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1117-1119)Aga>Gga		ring finger protein 14							79.0	80.0	79.0					5																	141362998		2203	4300	6503	SO:0001583	missense	9604				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	g.chr5:141362998A>G	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1117A>G	5.37:g.141362998A>G	ENSP00000378028:p.Arg373Gly		Somatic				RNF14_ENST00000347642.3_Missense_Mutation_p.R373G|RNF14_ENST00000394515.3_Missense_Mutation_p.R197G|RNF14_ENST00000394514.2_Missense_Mutation_p.R247G|RNF14_ENST00000356143.1_Missense_Mutation_p.R373G|RNF14_ENST00000540015.1_Missense_Mutation_p.R70G|RNF14_ENST00000394519.1_Missense_Mutation_p.R373G	p.R373G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	WXS	Illumina GAIIx	Phase_I	Q9UBS8	RNF14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	7	1426	+		all_hematologic(541;0.0536)|Ovarian(839;0.118)	373			Interaction with androgen receptor.		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	c.1117A>G	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959774	0.53400	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	D;D;D;D;D;D;D;D	0.91351	-2.4;-2.4;-2.4;-2.83;-2.42;-2.81;-1.99;-2.4	6.01	4.8	0.61643	.	0.132800	0.64402	D	0.000002	D	0.88130	0.6354	L	0.46157	1.445	0.37890	D	0.93067	B;P;B	0.42248	0.138;0.774;0.415	B;B;B	0.43331	0.082;0.416;0.108	D	0.87911	0.2697	10	0.28530	T	0.3	.	13.6382	0.62235	0.7801:0.2199:0.0:0.0	.	70;197;373	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	G	373;373;373;70;247;70;197;373	ENSP00000348462:R373G;ENSP00000378028:R373G;ENSP00000324956:R373G;ENSP00000442490:R70G;ENSP00000378022:R247G;ENSP00000426832:R70G;ENSP00000378023:R197G;ENSP00000378027:R373G	ENSP00000324956:R373G	R	+	1	2	RNF14	141343182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.307000	0.51888	2.298000	0.77334	0.528000	0.53228	AGA		0.373	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290		8	51	0	0	0	1	0	8	51				
NDRG1	10397	broad.mit.edu	37	8	134276798	134276798	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:134276798C>T	ENST00000414097.2	-	4	1064	c.197G>A	c.(196-198)gGc>gAc	p.G66D	NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000537882.1_Intron|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.G66D|NDRG1_ENST00000354944.5_Missense_Mutation_p.G66D|NDRG1_ENST00000518176.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	66					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACGGTTCATGCCGATGTCATG	0.577			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(196-198)gGc>gAc		N-myc downstream regulated 1							155.0	130.0	138.0					8																	134276798		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134276798C>T	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.197G>A	8.37:g.134276798C>T	ENSP00000404854:p.Gly66Asp		Somatic				NDRG1_ENST00000323851.7_Missense_Mutation_p.G66D|NDRG1_ENST00000354944.5_Missense_Mutation_p.G66D|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000537882.1_Intron	p.G66D	NM_001135242.1	NP_001128714.1	WXS	Illumina GAIIx	Phase_I	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	1064	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		66					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.197G>A	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233892	0.95207	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000520230;ENST00000519228;ENST00000519580;ENST00000522890;ENST00000520943;ENST00000521544;ENST00000522738	D;T;D;T;T;T;T;T;T;T	0.91351	-2.83;1.59;-2.83;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97270	0.9910	10	0.87932	D	0	-36.5164	18.0969	0.89493	0.0:1.0:0.0:0.0	.	66	Q92597	NDRG1_HUMAN	D	66;66;66;83;66;66;66;77;66;120	ENSP00000319977:G66D;ENSP00000347028:G66D;ENSP00000404854:G66D;ENSP00000428345:G83D;ENSP00000429994:G66D;ENSP00000429272:G66D;ENSP00000428384:G66D;ENSP00000429840:G77D;ENSP00000429524:G66D;ENSP00000428991:G120D	ENSP00000319977:G66D	G	-	2	0	NDRG1	134345980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.187000	0.77730	2.622000	0.88805	0.561000	0.74099	GGC		0.577	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			6	579	0	0	0	1	0	6	579				
DNAH10	196385	broad.mit.edu	37	12	124272467	124272467	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:124272467G>A	ENST00000409039.3	+	10	1380	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGGAAGATCGGTGGGAGTTT	0.582																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1354-1356)cGg>cAg		dynein, axonemal, heavy chain 10							53.0	45.0	48.0					12																	124272467		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124272467G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1355G>A	12.37:g.124272467G>A	ENSP00000386770:p.Arg452Gln		Somatic					p.R452Q	NM_207437.3	NP_997320.2	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	10	1380	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		452			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1355G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412386	0.83340	.	.	ENSG00000197653	ENST00000409039	T	0.54071	0.59	5.55	5.55	0.83447	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000013	T	0.71576	0.3356	M	0.90650	3.135	0.40196	D	0.977457	D	0.67145	0.996	D	0.65573	0.936	T	0.72297	-0.4335	10	0.11794	T	0.64	.	11.4696	0.50261	0.0896:0.0:0.9104:0.0	.	452	Q8IVF4	DYH10_HUMAN	Q	452	ENSP00000386770:R452Q	ENSP00000386770:R452Q	R	+	2	0	DNAH10	122838420	0.998000	0.40836	0.068000	0.19968	0.569000	0.35902	4.862000	0.62976	2.601000	0.87937	0.561000	0.74099	CGG		0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	29	0	0	0	1	0	6	29				
SYNM	23336	broad.mit.edu	37	15	99672469	99672469	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:99672469C>T	ENST00000336292.6	+	5	4021	c.3901C>T	c.(3901-3903)Cca>Tca	p.P1301S	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1302	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAGGGTTGCCAGGGAGCAG	0.537																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(3901-3903)Cca>Tca		synemin, intermediate filament protein							140.0	145.0	143.0					15																	99672469		2107	4239	6346	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672469C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3901C>T	15.37:g.99672469C>T	ENSP00000336775:p.Pro1301Ser		Somatic				SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	p.P1301S	NM_145728.2	NP_663780.2	WXS	Illumina GAIIx	Phase_I	O15061	SYNEM_HUMAN			5	4021	+			1302			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.3901C>T		.	.	.	.	.	.	.	.	.	.	C	3.431	-0.116071	0.06881	.	.	ENSG00000182253	ENST00000336292	T	0.80909	-1.43	5.0	-1.66	0.08265	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39522	-0.9610	8	0.13108	T	0.6	.	4.6849	0.12754	0.1489:0.3911:0.0:0.46	.	1302	O15061	SYNEM_HUMAN	S	1301	ENSP00000336775:P1301S	ENSP00000336775:P1301S	P	+	1	0	SYNM	97489992	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.158000	0.03153	-0.184000	0.10567	0.563000	0.77884	CCA		0.537	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		10	680	0	0	0	1	0	10	680				
SMARCA4	6597	broad.mit.edu	37	19	11144110	11144110	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:11144110G>A	ENST00000429416.3	+	27	3972	c.3691G>A	c.(3691-3693)Gcc>Acc	p.A1231T	SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1231T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1231T|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1231T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1231T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1231T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1231T	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1231	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|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 from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGTGATCCAGGCCGGCATGTT	0.632			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3691-3693)Gcc>Acc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							122.0	117.0	118.0					19																	11144110		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144110G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3691G>A	19.37:g.11144110G>A	ENSP00000395654:p.Ala1231Thr		Somatic				SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1231T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1231T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1231T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1231T	p.A1231T	NM_001128849.1	NP_001122321.1	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			26	3975	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1231			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3691G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741441	0.89573	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;D;D;D;D	0.95447	-1.01;-1.01;-1.01;-3.71;-3.71;-3.71;-3.71	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.061212	0.64402	D	0.000004	D	0.97105	0.9054	M	0.64260	1.97	0.58432	D	0.999999	D;D;D;P;D;D;P	0.89917	1.0;1.0;1.0;0.939;1.0;0.996;0.939	D;D;D;P;D;P;P	0.97110	1.0;1.0;1.0;0.786;0.999;0.844;0.786	D	0.97715	1.0193	10	0.87932	D	0	-29.2939	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1231;1231;1231;1231;1231;451;1231	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	T	1231;1231;1295;1231;1231;1231;1231;1231	ENSP00000395654:A1231T;ENSP00000350720:A1231T;ENSP00000343896:A1231T;ENSP00000445036:A1231T;ENSP00000392837:A1231T;ENSP00000397783:A1231T;ENSP00000414727:A1231T	ENSP00000343896:A1231T	A	+	1	0	SMARCA4	11005110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.264000	0.95635	2.488000	0.83962	0.558000	0.71614	GCC		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		43	166	0	0	0	1	0	43	166				
ZNF507	22847	broad.mit.edu	37	19	32873458	32873458	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:32873458T>A	ENST00000311921.4	+	5	2638	c.2446T>A	c.(2446-2448)Tac>Aac	p.Y816N	ZNF507_ENST00000355898.5_Missense_Mutation_p.Y816N|ZNF507_ENST00000544431.1_Missense_Mutation_p.Y820N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	816					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAATTACAACTACGAACAAGT	0.428																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(2446-2448)Tac>Aac		zinc finger protein 507							255.0	240.0	245.0					19																	32873458		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32873458T>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2446T>A	19.37:g.32873458T>A	ENSP00000312277:p.Tyr816Asn		Somatic				ZNF507_ENST00000544431.1_Missense_Mutation_p.Y820N|ZNF507_ENST00000355898.5_Missense_Mutation_p.Y816N	p.Y816N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	WXS	Illumina GAIIx	Phase_I	Q8TCN5	ZN507_HUMAN			5	2638	+	Esophageal squamous(110;0.162)		816					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.2446T>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170755	0.78452	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07567	3.52;3.52;3.18	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.71581	2.175	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.01416	-1.1360	10	0.72032	D	0.01	.	15.6604	0.77182	0.0:0.0:0.0:1.0	.	816	Q8TCN5	ZN507_HUMAN	N	816;816;820	ENSP00000348162:Y816N;ENSP00000312277:Y816N;ENSP00000441549:Y820N	ENSP00000312277:Y816N	Y	+	1	0	ZNF507	37565298	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	7.618000	0.83043	2.161000	0.67846	0.533000	0.62120	TAC		0.428	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		6	522	0	0	0	1	0	6	522				
EN2	2020	broad.mit.edu	37	7	155255155	155255155	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:155255155C>T	ENST00000297375.4	+	2	1024	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	259					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCAGAGGCTCAAGGCCGA	0.587																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(775-777)Ctc>Ttc		engrailed homeobox 2							67.0	72.0	70.0					7																	155255155		2203	4300	6503	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255155C>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.775C>T	7.37:g.155255155C>T	ENSP00000297375:p.Leu259Phe		Somatic					p.L259F	NM_001427.3	NP_001418.2	WXS	Illumina GAIIx	Phase_I	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1024	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	259					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.775C>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181566	0.94885	.	.	ENSG00000164778	ENST00000297375	D	0.99574	-6.2	5.2	5.2	0.72013	Homeodomain-related (1);Homeobox engrailed (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97386	0.9986	10	0.87932	D	0	-20.5306	18.6977	0.91607	0.0:1.0:0.0:0.0	.	259	P19622	HME2_HUMAN	F	259	ENSP00000297375:L259F	ENSP00000297375:L259F	L	+	1	0	EN2	154947916	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.496000	0.81526	2.590000	0.87494	0.655000	0.94253	CTC		0.587	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		4	46	0	0	0	1	0	4	46				
CATSPERG	57828	broad.mit.edu	37	19	38861245	38861245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:38861245G>A	ENST00000409235.3	+	29	3408	c.3293G>A	c.(3292-3294)tGc>tAc	p.C1098Y	CATSPERG_ENST00000410018.1_Missense_Mutation_p.C1058Y|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1098					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTGAAGGGCTGCACGATGATC	0.542																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(3292-3294)tGc>tAc		catsper channel auxiliary subunit gamma							237.0	176.0	197.0					19																	38861245		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38861245G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3293G>A	19.37:g.38861245G>A	ENSP00000386962:p.Cys1098Tyr		Somatic				CATSPERG_ENST00000410018.1_Missense_Mutation_p.C1058Y|CATSPERG_ENST00000215069.4_3'UTR	p.C1098Y	NM_021185.4	NP_067008.3	WXS	Illumina GAIIx	Phase_I	Q6ZRH7	CTSRG_HUMAN			29	3408	+			1098					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.3293G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890281	0.33348	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.24151	1.88;1.87	5.43	3.29	0.37713	.	0.620472	0.15455	N	0.261427	T	0.14485	0.0350	L	0.29908	0.895	0.21579	N	0.999634	B;B	0.17268	0.021;0.021	B;B	0.13407	0.009;0.009	T	0.34725	-0.9817	10	0.05959	T	0.93	-15.99	7.6713	0.28460	0.0881:0.1652:0.7467:0.0	.	1098;1058	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Y	1058;1098;1098	ENSP00000387057:C1058Y;ENSP00000386962:C1098Y	ENSP00000386962:C1098Y	C	+	2	0	CATSPERG	43553085	0.933000	0.31639	0.013000	0.15412	0.004000	0.04260	2.868000	0.48436	0.771000	0.33359	0.555000	0.69702	TGC		0.542	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	434	0	0	0	1	0	5	434				
PCCB	5096	broad.mit.edu	37	3	136046479	136046479	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:136046479T>C	ENST00000251654.4	+	13	1373	c.1303T>C	c.(1303-1305)Tat>Cat	p.Y435H	PCCB_ENST00000469217.1_Missense_Mutation_p.Y455H|PCCB_ENST00000471595.1_Missense_Mutation_p.Y435H|PCCB_ENST00000490504.1_Missense_Mutation_p.Y378H|PCCB_ENST00000482086.1_Missense_Mutation_p.Y319H|PCCB_ENST00000462637.1_Missense_Mutation_p.Y412H|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000466072.1_Missense_Mutation_p.Y455H|PCCB_ENST00000483687.1_Missense_Mutation_p.Y416H|PCCB_ENST00000468777.1_Missense_Mutation_p.Y466H|PCCB_ENST00000474833.1_3'UTR	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	435	Carboxyltransferase.		Y -> C (in PA-2). {ECO:0000269|PubMed:12189489}.		biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GTTTTAGGCCTATGGAGGTGC	0.493																																						ENST00000471595.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25						c.(1303-1305)Tat>Cat		propionyl CoA carboxylase, beta polypeptide	Biotin(DB00121)|L-Valine(DB00161)						122.0	102.0	109.0					3																	136046479		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136046479T>C		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1303T>C	3.37:g.136046479T>C	ENSP00000251654:p.Tyr435His		Somatic				PCCB_ENST00000490504.1_Missense_Mutation_p.Y378H|PCCB_ENST00000483687.1_Missense_Mutation_p.Y416H|PCCB_ENST00000462637.1_Missense_Mutation_p.Y412H|PCCB_ENST00000469217.1_Missense_Mutation_p.Y455H|PCCB_ENST00000466072.1_Missense_Mutation_p.Y455H|PCCB_ENST00000251654.4_Missense_Mutation_p.Y435H|PCCB_ENST00000482086.1_Missense_Mutation_p.Y319H|PCCB_ENST00000468777.1_Missense_Mutation_p.Y466H|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000478469.1_Intron	p.Y435H			WXS	Illumina GAIIx	Phase_I	P05166	PCCB_HUMAN			13	1321	+			435		Y -> C (in PA-2).	Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.1303T>C	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333312	0.81801	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217	D;D;D;D;D;T;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;1.34;-4.66;-4.66;-4.66	4.64	4.64	0.57946	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	H	0.97158	3.95	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.992;0.997;0.997	D	0.99072	1.0834	10	0.87932	D	0	.	14.2246	0.65850	0.0:0.0:0.0:1.0	.	455;435;435	B7Z2Z4;E9PDR0;P05166	.;.;PCCB_HUMAN	H	435;378;416;466;412;455;319;435;455	ENSP00000251654:Y435H;ENSP00000418307:Y378H;ENSP00000420639:Y416H;ENSP00000419129:Y466H;ENSP00000420391:Y412H;ENSP00000420158:Y455H;ENSP00000417253:Y319H;ENSP00000417549:Y435H;ENSP00000419027:Y455H	ENSP00000251654:Y435H	Y	+	1	0	PCCB	137529169	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.448000	0.80631	1.952000	0.56665	0.402000	0.26972	TAT		0.493	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			233	63	0	0	0	1	0	233	63				
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:82935895A>T	ENST00000393392.2	+	6	664		c.e6-1		ANKRD42_ENST00000260047.6_Splice_Site|ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_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	8	229	0	0	0	1	0	8	229				
ZNF654	55279	broad.mit.edu	37	3	88189280	88189280	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:88189280A>T	ENST00000309495.5	+	1	1027	c.820A>T	c.(820-822)Aat>Tat	p.N274Y	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTTGCATTTTAATTGCAACGA	0.373																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(820-822)Aat>Tat		zinc finger protein 654							95.0	88.0	90.0					3																	88189280		1855	4097	5952	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189280A>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.820A>T	3.37:g.88189280A>T	ENSP00000312141:p.Asn274Tyr		Somatic				CGGBP1_ENST00000462901.1_Intron	p.N274Y	NM_018293.2	NP_060763.2	WXS	Illumina GAIIx	Phase_I	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1027	+		Lung NSC(201;0.0283)	274					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.820A>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.826948	0.50739	.	.	ENSG00000175105	ENST00000309495	T	0.37058	1.22	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.558947	0.20261	N	0.095870	T	0.37972	0.1023	L	0.47016	1.485	0.30687	N	0.751717	D	0.62365	0.991	P	0.47744	0.556	T	0.50792	-0.8786	10	0.72032	D	0.01	.	9.8742	0.41194	0.9245:0.0:0.0755:0.0	.	274	Q8IZM8	ZN654_HUMAN	Y	274	ENSP00000312141:N274Y	ENSP00000312141:N274Y	N	+	1	0	ZNF654	88271970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.579000	0.60936	2.248000	0.74166	0.533000	0.62120	AAT		0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		5	156	0	0	0	1	0	5	156				
MAPKBP1	23005	broad.mit.edu	37	15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:42105829C>A	ENST00000456763.2	+	10	1044	c.848C>A	c.(847-849)gCc>gAc	p.A283D	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.A277D|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D|MAPKBP1_ENST00000221214.6_Intron	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(829-831)gCc>gAc		mitogen-activated protein kinase binding protein 1							151.0	133.0	139.0					15																	42105829		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42105829C>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.848C>A	15.37:g.42105829C>A	ENSP00000393099:p.Ala283Asp		Somatic				MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A283D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D	p.A277D	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	9	1116	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	283					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.830C>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	28.0	4.883775	0.91814	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.55052	0.78;0.54;4.98;4.98	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	M	0.81802	2.56	0.80722	D	1	D;D;D;P	0.89917	1.0;0.995;0.979;0.954	D;D;D;P	0.91635	0.999;0.951;0.965;0.848	T	0.78140	-0.2320	10	0.72032	D	0.01	-12.4713	19.3199	0.94234	0.0:1.0:0.0:0.0	.	165;277;283;277	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	D	277;165;283;277	ENSP00000397570:A277D;ENSP00000260357:A165D;ENSP00000393099:A283D;ENSP00000426154:A277D	ENSP00000260357:A165D	A	+	2	0	MAPKBP1	39893121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.655000	0.90218	0.651000	0.88453	GCC		0.582	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		15	233	1	0	7.41877e-09	1	8.06155e-09	15	233				
OTOGL	283310	broad.mit.edu	37	12	80764348	80764348	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:80764348A>T	ENST00000547103.1	+	55	6558		c.e55-1		OTOGL_ENST00000546620.1_Splice_Site|OTOGL_ENST00000458043.2_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGATTTTTAGGTAGGGAGT	0.308																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e55-1		otogelin-like							105.0	105.0	105.0					12																	80764348		2203	4300	6503	SO:0001630	splice_region_variant	283310							g.chr12:80764348A>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6553-1A>T	12.37:g.80764348A>T			Somatic				OTOGL_ENST00000547103.1_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site		NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					55	6594	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37			.	.	.	.	.	.	.	.	.	.	A	12.16	1.855117	0.32791	.	.	ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000298820;ENST00000546620;ENST00000550182	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1629	0.72798	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79288479	1.000000	0.71417	0.976000	0.42696	0.110000	0.19582	8.457000	0.90361	2.074000	0.62210	0.482000	0.46254	.		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Intron	4	153	0	0	0	1	0	4	153				
LRRTM1	347730	broad.mit.edu	37	2	80530941	80530941	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:80530941C>G	ENST00000295057.3	-	2	660	c.4G>C	c.(4-6)Gat>Cat	p.D2H	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D2H|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	2					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGCAGGAAATCCATTAGCGAG	0.562										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(4-6)Gat>Cat		leucine rich repeat transmembrane neuronal 1							26.0	29.0	28.0					2																	80530941		2018	4150	6168	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530941C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.4G>C	2.37:g.80530941C>G	ENSP00000295057:p.Asp2His	HNSCC(69;0.2)	Somatic				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D2H|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	p.D2H	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	Q86UE6	LRRT1_HUMAN			2	660	-			2					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.4G>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428036	0.43122	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.57595	0.79;0.79;0.56;0.39;1.32	4.46	3.59	0.41128	.	0.000000	0.85682	U	0.000000	T	0.64091	0.2567	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.61584	-0.7033	9	.	.	.	.	12.246	0.54571	0.0:0.9162:0.0:0.0838	.	2	Q86UE6	LRRT1_HUMAN	H	2	ENSP00000295057:D2H;ENSP00000386646:D2H;ENSP00000415368:D2H;ENSP00000389473:D2H;ENSP00000404557:D2H	.	D	-	1	0	LRRTM1	80384452	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.462000	0.80851	0.865000	0.35603	0.185000	0.17295	GAT		0.562	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		8	32	0	0	0	1	0	8	32				
ABHD11	83451	broad.mit.edu	37	7	73151433	73151433	+	Missense_Mutation	SNP	G	G	A	rs201053538		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:73151433G>A	ENST00000222800.3	-	5	710	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000468998.1_5'Flank|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000437775.2_Missense_Mutation_p.A207V|ABHD11_ENST00000395147.4_Missense_Mutation_p.A157V	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	214						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCCGCACGGCCATGTCCTG	0.607																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(640-642)gCc>gTc		abhydrolase domain containing 11							63.0	64.0	64.0					7																	73151433		2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73151433G>A	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.641C>T	7.37:g.73151433G>A	ENSP00000222800:p.Ala214Val		Somatic				ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Missense_Mutation_p.A157V|ABHD11_ENST00000437775.2_Missense_Mutation_p.A207V	p.A214V	NM_148912.2	NP_683710.1	WXS	Illumina GAIIx	Phase_I	Q8NFV4	ABHDB_HUMAN			5	710	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	214					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.641C>T	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	G	7.786	0.710506	0.15239	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.68181	1.31;1.3;-0.31	4.38	1.42	0.22433	.	0.636387	0.16335	N	0.218965	T	0.54935	0.1889	L	0.48986	1.54	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.43163	-0.9408	10	0.36615	T	0.2	-0.6218	6.6615	0.23016	0.1048:0.3837:0.5115:0.0	.	207;214	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	V	207;214;157	ENSP00000416970:A207V;ENSP00000222800:A214V;ENSP00000378579:A157V	ENSP00000222800:A214V	A	-	2	0	ABHD11	72789369	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.242000	0.32755	-0.031000	0.13781	0.561000	0.74099	GCC		0.607	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			4	189	0	0	0	1	0	4	189				
TARS2	80222	broad.mit.edu	37	1	150459930	150459930	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:150459930G>A	ENST00000369064.3	+	1	38	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	TARS2_ENST00000369054.2_Missense_Mutation_p.A2T|TARS2_ENST00000438568.2_Missense_Mutation_p.A2T|TARS2_ENST00000606933.1_Missense_Mutation_p.A2T	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	2					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	AAGGAACATGGCCCTGTATCA	0.547																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(4-6)Gcc>Acc		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						137.0	112.0	121.0					1																	150459930		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150459930G>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.4G>A	1.37:g.150459930G>A	ENSP00000358060:p.Ala2Thr		Somatic				TARS2_ENST00000438568.2_Missense_Mutation_p.A2T|TARS2_ENST00000606933.1_Missense_Mutation_p.A2T|TARS2_ENST00000369054.2_Missense_Mutation_p.A2T	p.A2T	NM_025150.3	NP_079426.2	WXS	Illumina GAIIx	Phase_I	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	38	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		2					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.4G>A	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786221	0.49997	.	.	ENSG00000143374	ENST00000438568;ENST00000369054;ENST00000369064;ENST00000369053	.	.	.	4.94	1.75	0.24633	.	0.549079	0.18346	N	0.144012	T	0.06142	0.0159	N	0.08118	0	0.09310	N	0.999999	B;B	0.17038	0.008;0.02	B;B	0.16722	0.007;0.016	T	0.24693	-1.0153	9	0.87932	D	0	-1.6598	3.9355	0.09304	0.223:0.2009:0.5761:0.0	.	2;2	Q9H9V2;Q9BW92	.;SYTM_HUMAN	T	2	.	ENSP00000358049:A2T	A	+	1	0	TARS2	148726554	0.575000	0.26692	0.907000	0.35723	0.002000	0.02628	0.441000	0.21611	0.655000	0.30866	-0.258000	0.10820	GCC		0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		59	134	0	0	0	1	0	59	134				
C4orf51	646603	broad.mit.edu	37	4	146617719	146617719	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:146617719T>C	ENST00000438731.1	+	2	242	c.242T>C	c.(241-243)tTg>tCg	p.L81S		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	81										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGGATGTCATTGACAAACAGT	0.418																																						ENST00000438731.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						c.(241-243)tTg>tCg		chromosome 4 open reading frame 51							154.0	146.0	148.0					4																	146617719		1883	4106	5989	SO:0001583	missense	646603							g.chr4:146617719T>C		CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.242T>C	4.37:g.146617719T>C	ENSP00000391404:p.Leu81Ser		Somatic					p.L81S	NM_001080531.1	NP_001074000.1	WXS	Illumina GAIIx	Phase_I	C9J302	CD051_HUMAN			2	242	+			81						Missense_Mutation	SNP	ENST00000438731.1	37	c.242T>C	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.883|7.883	0.730730|0.730730	0.15507|0.15507	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	3.39|3.39	-3.14|-3.14	0.05250|0.05250	.|.	.|.	.|.	.|.	.|.	T|.	0.18841|.	0.0452|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.23891|.	0.093|.	B|.	0.20955|.	0.032|.	T|.	0.26430|.	-1.0103|.	8|.	0.87932|.	D|.	0|.	.|.	0.6936|0.6936	0.00895|0.00895	0.1846:0.3309:0.1884:0.2962|0.1846:0.3309:0.1884:0.2962	.|.	81|.	C9J302|.	CD051_HUMAN|.	S|R	81|41	.|.	ENSP00000391404:L81S|.	L|X	+|+	2|1	0|0	C4orf51|C4orf51	146837169|146837169	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	-0.316000|-0.316000	0.08071|0.08071	-0.573000|-0.573000	0.05998|0.05998	0.459000|0.459000	0.35465|0.35465	TTG|TGA		0.418	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080531		4	179	0	0	0	1	0	4	179				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e8-1		solute carrier family 35, member F1																																				SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118635189A>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1003-1A>T	6.37:g.118635189A>T			Somatic						NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1203	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953854	0.73902	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118741882	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.987000	0.88182	2.186000	0.69663	0.533000	0.62120	.		0.473	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	4	51	0	0	0	1	0	4	51				
DNAJB4	11080	broad.mit.edu	37	1	78470926	78470926	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:78470926A>T	ENST00000370763.5	+	1	389	c.132A>T	c.(130-132)aaA>aaT	p.K44N	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_Intron|RP11-386I14.4_ENST00000608684.1_RNA	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	44	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGAGGAAAAATTTAAAGAGG	0.373																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(130-132)aaA>aaT		DnaJ (Hsp40) homolog, subfamily B, member 4							60.0	67.0	65.0					1																	78470926		2200	4300	6500	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78470926A>T	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.132A>T	1.37:g.78470926A>T	ENSP00000359799:p.Lys44Asn		Somatic				DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	p.K44N	NM_007034.3	NP_008965.2	WXS	Illumina GAIIx	Phase_I	Q9UDY4	DNJB4_HUMAN			1	389	+			44			J.		B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.132A>T	CCDS684.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087216	0.76642	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.35048	1.33;1.33	5.69	5.69	0.88448	Heat shock protein DnaJ, N-terminal (5);	0.090883	0.85682	D	0.000000	T	0.34978	0.0916	L	0.28504	0.86	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.33574	-0.9863	10	0.59425	D	0.04	.	10.3037	0.43667	0.9263:0.0:0.0737:0.0	.	44	Q9UDY4	DNJB4_HUMAN	N	44	ENSP00000399494:K44N;ENSP00000359799:K44N	ENSP00000359799:K44N	K	+	3	2	DNAJB4	78243514	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.304000	0.59104	2.149000	0.67028	0.528000	0.53228	AAA		0.373	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			22	51	0	0	0	1	0	22	51				
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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	12	476	0	0	0	1	0	12	476				
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:154574475C>T	ENST00000368474.4	-	2	842	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.G258S|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(643-645)Ggt>Agt		adenosine deaminase, RNA-specific							91.0	96.0	95.0					1																	154574475		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574475C>T	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.643G>A	1.37:g.154574475C>T	ENSP00000357459:p.Gly215Ser		Somatic				ADAR_ENST00000292205.5_Missense_Mutation_p.G258S|ADAR_ENST00000368471.3_5'UTR	p.G215S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	WXS	Illumina GAIIx	Phase_I	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	842	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		215					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.643G>A	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590307	0.13812	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11495	2.77;2.77;2.78	2.54	-5.07	0.02938	.	13.364500	0.00447	N	0.000091	T	0.01421	0.0046	N	0.11927	0.2	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.008	B;B;B	0.06405	0.002;0.002;0.002	T	0.39057	-0.9632	10	0.33940	T	0.23	13.0811	4.3347	0.11080	0.0:0.2519:0.3265:0.4216	.	215;215;215	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	258;215;210	ENSP00000292205:G258S;ENSP00000357459:G215S;ENSP00000431794:G210S	ENSP00000292205:G258S	G	-	1	0	ADAR	152841099	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.602000	0.02079	-1.387000	0.02095	-0.671000	0.03813	GGT		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		4	277	0	0	0	1	0	4	277				
UBE2V1	7335	broad.mit.edu	37	20	48699307	48699307	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:48699307A>T	ENST00000371674.3	-	4	486	c.442T>A	c.(442-444)Taa>Aaa	p.*148K	UBE2V1_ENST00000415862.2_Nonstop_Mutation_p.*104K|TMEM189-UBE2V1_ENST00000341698.2_Nonstop_Mutation_p.*371K|TMEM189_ENST00000557021.1_Nonstop_Mutation_p.*371K|UBE2V1_ENST00000340309.3_Nonstop_Mutation_p.*171K|UBE2V1_ENST00000371657.5_Nonstop_Mutation_p.*106K|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Nonstop_Mutation_p.*104K|UBE2V1_ENST00000371677.3_Nonstop_Mutation_p.*171K	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	0					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|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 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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			CTTTTTGATTAATTGCTGTAA	0.413																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1111-1113)Taa>Aaa		transmembrane protein 189							72.0	70.0	70.0					20																	48699307		2203	4300	6503	SO:0001578	stop_lost	387521							g.chr20:48699307A>T	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.442T>A	20.37:g.48699307A>T			Somatic				UBE2V1_ENST00000371677.3_Nonstop_Mutation_p.*171K|TMEM189-UBE2V1_ENST00000341698.2_Nonstop_Mutation_p.*371K|UBE2V1_ENST00000420027.2_Nonstop_Mutation_p.*104K|UBE2V1_ENST00000340309.3_Nonstop_Mutation_p.*171K|UBE2V1_ENST00000371657.5_Nonstop_Mutation_p.*106K|UBE2V1_ENST00000371674.3_Nonstop_Mutation_p.*148K|UBE2V1_ENST00000415862.2_Nonstop_Mutation_p.*104K|UBE2V1_ENST00000396059.3_5'UTR	p.*371K	NM_199203.2	NP_954673.1	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1271	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Nonstop_Mutation	SNP	ENST00000371674.3	37	c.1111T>A	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197598	0.79015	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3489	0.74368	1.0:0.0:0.0:0.0	.	.	.	.	K	371;106;148;171;104;171;104;104;371	.	.	X	-	1	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132714	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	8.910000	0.92685	2.028000	0.59812	0.528000	0.53228	TAA		0.413	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		5	178	0	0	0	1	0	5	178				
UBE4B	10277	broad.mit.edu	37	1	10238756	10238758	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:10238756_10238758delGGG	ENST00000253251.8	+	25	4032_4034	c.3193_3195delGGG	c.(3193-3195)gggdel	p.G1065del	UBE4B_ENST00000343090.6_In_Frame_Del_p.G1194del|UBE4B_ENST00000377157.3_In_Frame_Del_p.G949del					ubiquitination factor E4B									p.G1065G(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCGGAAGGCAGGGATCAAATCCA	0.453																																						ENST00000377157.3																			1	Substitution - coding silent(1)	p.G1065G(1)	ovary(1)	NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2845-2847)del		ubiquitination factor E4B																																				SO:0001651	inframe_deletion	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10238756_10238758delGGG	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3193_3195delGGG	1.37:g.10238756_10238758delGGG	ENSP00000253251:p.Gly1065del		Somatic				UBE4B_ENST00000343090.6_In_Frame_Del_p.G1194del|UBE4B_ENST00000253251.8_In_Frame_Del_p.G1065del	p.G949del	NM_006048.4	NP_006039.2	WXS	Illumina GAIIx	Phase_I	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	25	3906_3908	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1194						In_Frame_Del	DEL	ENST00000253251.8	37	c.2845_2847delGGG	CCDS110.1																																																																																				0.453	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		24	144						24	144	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2190_2191insC	c.(2188-2193)cccagg>cccCagg	p.R731fs	NBPF1_ENST00000287968.8_Splice_Site_p.R96fs|NBPF1_ENST00000432949.1_Splice_Site_p.R189fs|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	731	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGACG	0.431																																						ENST00000430580.2																			0											c.e20+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16901653_16901654insG	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2192+1->C	1.37:g.16901658_16901658dupG			Somatic				NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	p.PG730_splice	NM_017940.3	NP_060410.2	WXS	Illumina GAIIx	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	20	3077_3078	-			730			NBPF 3.		Q8N4E8|Q9C0H0	Splice_Site	INS	ENST00000430580.2	37	c.2192_splice																																																																																					0.431	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Frame_Shift_Ins	7	2019						7	2019	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5542-5544)gggfs	p.G1848fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G176fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1631fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1465fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1848					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Insertion - Frameshift(3)	p.G1848fs*6(3)	ovary(2)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5539-5544)ggggggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105930_27105931insG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5548dupG	1.37:g.27105937_27105937dupG	ENSP00000320485:p.Gly1848fs		Somatic				ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	p.GG1847fs	NM_006015.4	NP_006006.3	WXS	Illumina GAIIx	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5912_5913	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1847					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.5541_5542insG	CCDS285.1																																																																																				0.579	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		18	441						18	441	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		12	581						12	581	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:32673442_32673443insG	ENST00000291358.6	+	5	1181_1182	c.1160_1161insG	c.(1159-1164)ttggggfs	p.LG387fs	DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Frame_Shift_Ins_p.LG467fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.55																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(1399-1401)tggfs		IQ motif containing C																																				SO:0001589	frameshift_variant	55721							g.chr1:32673442_32673443insG	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1167dupG	1.37:g.32673449_32673449dupG	ENSP00000291358:p.Leu387fs		Somatic				IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	p.W467fs	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	Q4KMZ1	IQCC_HUMAN			5	1447_1448	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	387					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Ins	INS	ENST00000291358.6	37	c.1400_1401insG	CCDS355.1																																																																																				0.550	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		13	192						13	192	---	---	---	---
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C	rs200289388		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:36636625_36636626insC	ENST00000373151.2	+	2	316_317	c.100_101insC	c.(100-102)tccfs	p.S34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.S34fs|MAP7D1_ENST00000316156.4_Frame_Shift_Ins_p.S34fs	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(100-102)cccfs		MAP7 domain containing 1																																				SO:0001589	frameshift_variant	55700					cytoplasm|spindle		g.chr1:36636625_36636626insC	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.107dupC	1.37:g.36636632_36636632dupC	ENSP00000362244:p.Ser34fs		Somatic				MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs	p.P34fs			WXS	Illumina GAIIx	Phase_I	Q3KQU3	MA7D1_HUMAN			2	553_554	+		Myeloproliferative disorder(586;0.0393)	34			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Frame_Shift_Ins	INS	ENST00000373151.2	37	c.100_101insC	CCDS30673.1																																																																																				0.594	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		8	133						8	133	---	---	---	---
PABPC4	8761	broad.mit.edu	37	1	40028015	40028016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:40028015_40028016insG	ENST00000372857.3	-	13	2485_2486	c.1693_1694insC	c.(1693-1695)cagfs	p.Q565fs	PABPC4_ENST00000372862.3_Frame_Shift_Ins_p.Q536fs|PABPC4_ENST00000372856.3_Frame_Shift_Ins_p.Q552fs|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Frame_Shift_Ins_p.Q581fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	565	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCTGTTCCTGGGGGGGTGCT	0.604																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1693-1695)ggafs		poly(A) binding protein, cytoplasmic 4 (inducible form)			,,	14,4250		0,14,2118					,,	5.4	1.0			53	20,8234		0,20,4107	no	frameshift,frameshift,frameshift	PABPC4	NM_003819.3,NM_001135654.1,NM_001135653.1	,,	0,34,6225	A1A1,A1R,RR		0.2423,0.3283,0.2716	,,	,,		34,12484				SO:0001589	frameshift_variant	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40028015_40028016insG	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1694dupC	1.37:g.40028022_40028022dupG	ENSP00000361948:p.Gln565fs		Somatic				PABPC4_ENST00000372856.3_Frame_Shift_Ins_p.G552fs|PABPC4_ENST00000372858.3_Frame_Shift_Ins_p.G581fs|PABPC4_ENST00000372862.3_Frame_Shift_Ins_p.G536fs	p.G565fs	NM_003819.3	NP_003810.1	WXS	Illumina GAIIx	Phase_I	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		13	2485_2486	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	565			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Frame_Shift_Ins	INS	ENST00000372857.3	37	c.1693_1694insC	CCDS438.1																																																																																				0.604	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		11	202						11	202	---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs		Somatic				ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	WXS	Illumina GAIIx	Phase_I	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		13	441						13	441	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_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		14	1854						14	1854	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2175)ccttttfs	p.PF724fs	MAST2_ENST00000372009.2_Frame_Shift_Ins_p.PF654fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.55																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(2170-2172)cttfs		microtubule associated serine/threonine kinase 2																																				SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494558_46494559insT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2178dupT	1.37:g.46494565_46494565dupT	ENSP00000354671:p.Pro724fs		Somatic				MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs|MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs	p.L724fs	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			18	2454_2455	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		724			Protein kinase.			Frame_Shift_Ins	INS	ENST00000361297.2	37	c.2171_2172insT	CCDS41326.1																																																																																				0.550	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		7	567						7	567	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)gatfs	p.D69fs	PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.D69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.D115fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.D69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCTTGAAATATCCCCCCAGTAC	0.381																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(205-207)tatfs		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)																																				SO:0001589	frameshift_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46546323_46546324insC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.206dupG	1.37:g.46546329_46546329dupC	ENSP00000262741:p.Asp69fs		Somatic				PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs	p.Y69fs	NM_003629.3	NP_003620.3	WXS	Illumina GAIIx	Phase_I	Q92569	P55G_HUMAN			2	894_895	-	Acute lymphoblastic leukemia(166;0.155)		69			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Ins	INS	ENST00000262741.5	37	c.205_206insG	CCDS529.1																																																																																				0.381	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		9	1122						9	1122	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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				FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	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		33	606						33	606	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(409-414)gtggggfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs		Somatic				FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	p.VG137fs	NM_001113411.1	NP_001106882.1	WXS	Illumina GAIIx	Phase_I	Q96C11	FGGY_HUMAN			4	595_596	+	all_cancers(7;7.36e-05)		137					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		18	440						18	440	---	---	---	---
ALG6	29929	broad.mit.edu	37	1	63877726	63877726	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:63877726A>G	ENST00000371108.4	+	9	1115	c.810A>G	c.(808-810)ttA>ttG	p.L270L	ALG6_ENST00000263440.4_Silent_p.L272L	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	270					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGTGGATTATTTGAGGCAT	0.438																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(808-810)ttA>ttG		ALG6, alpha-1,3-glucosyltransferase							147.0	141.0	143.0					1																	63877726		2203	4300	6503	SO:0001819	synonymous_variant	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63877726A>G	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.810A>G	1.37:g.63877726A>G			Somatic				ALG6_ENST00000263440.4_Silent_p.L272L	p.L270L	NM_013339.3	NP_037471.2	WXS	Illumina GAIIx	Phase_I	Q9Y672	ALG6_HUMAN			9	1115	+			270					B3KMU2|Q5SXR9|Q9H3I0	Silent	SNP	ENST00000371108.4	37	c.810A>G	CCDS30735.1																																																																																				0.438	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		3	303	0	0	0	1	0	3	303				
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.452_453insC	c.(451-456)ggcccc>ggCcccc	p.GP151fs	ROR1_ENST00000371080.1_Splice_Site_p.GP151fs|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.e4-1		receptor tyrosine kinase-like orphan receptor 1																																				SO:0001630	splice_region_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64516358_64516359insC	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.452-1->C	1.37:g.64516364_64516364dupC			Somatic				ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	p.A151_splice	NM_005012.3	NP_005003.2	WXS	Illumina GAIIx	Phase_I	Q01973	ROR1_HUMAN			4	827_828	+			151					Q5VVX6|Q66K77|Q92776	Splice_Site	INS	ENST00000371079.1	37	c.451_splice	CCDS626.1																																																																																				0.396	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	Frame_Shift_Ins	11	471						11	471	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)accfs	p.T1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.T1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554																																						ENST00000371073.2																			1	Insertion - Frameshift(1)	p.Q1185fs*23(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3697-3699)cccfs		cache domain containing 1																																				SO:0001589	frameshift_variant	57685				calcium ion transport	integral to membrane		g.chr1:65157116_65157117insC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3704dupC	1.37:g.65157123_65157123dupC	ENSP00000360113:p.Thr1233fs		Somatic				CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs	p.P1233fs			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			27	3697_3698	+			1233					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	ENST00000371073.2	37	c.3697_3698insC																																																																																					0.554	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		11	211						11	211	---	---	---	---
SH3GLB1	51100	broad.mit.edu	37	1	87208858	87208858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:87208858delG	ENST00000370558.4	+	9	1362	c.1038delG	c.(1036-1038)atgfs	p.M346fs	SH3GLB1_ENST00000535010.1_Frame_Shift_Del_p.M246fs|SH3GLB1_ENST00000482504.1_Frame_Shift_Del_p.M367fs	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	346	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACTGGCTAATGGGGGAAAGGG	0.388																																						ENST00000370558.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11						c.(1036-1038)atfs		SH3-domain GRB2-like endophilin B1							171.0	172.0	172.0					1																	87208858		2203	4300	6503	SO:0001589	frameshift_variant	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87208858delG	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.1038delG	1.37:g.87208858delG	ENSP00000473267:p.Met346fs		Somatic				SH3GLB1_ENST00000535010.1_Frame_Shift_Del_p.M246fs|SH3GLB1_ENST00000482504.1_Frame_Shift_Del_p.M367fs	p.M346fs	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	WXS	Illumina GAIIx	Phase_I	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	9	1362	+		Lung NSC(277;0.209)	346			SH3.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Frame_Shift_Del	DEL	ENST00000370558.4	37	c.1038delG	CCDS710.1																																																																																				0.388	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		7	527						7	527	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1521)ctccccfs	p.LP506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.5																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(1516-1518)cccfs		leucine rich repeat containing 8 family, member C																																				SO:0001589	frameshift_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179646_90179647insC		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1524dupC	1.37:g.90179653_90179653dupC	ENSP00000359483:p.Leu506fs		Somatic				RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.P506fs	NM_032270.4	NP_115646.2	WXS	Illumina GAIIx	Phase_I	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1772_1773	+		all_lung(203;0.126)	506					B3KXS9|Q29RV6|Q9H075	Frame_Shift_Ins	INS	ENST00000370454.4	37	c.1517_1518insC	CCDS725.1																																																																																				0.500	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		9	173						9	173	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		33	732						33	732	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:114523958_114523959insC	ENST00000320334.4	+	3	862_863	c.788_789insC	c.(787-792)atccccfs	p.IP263fs	OLFML3_ENST00000369551.1_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.IP243fs|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(727-729)accfs		olfactomedin-like 3																																				SO:0001589	frameshift_variant	56944				multicellular organismal development	extracellular region		g.chr1:114523958_114523959insC	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.795dupC	1.37:g.114523965_114523965dupC	ENSP00000322273:p.Ile263fs		Somatic				OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs	p.T243fs			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1016_1017	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	263			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Ins	INS	ENST00000320334.4	37	c.728_729insC	CCDS870.1																																																																																				0.559	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		10	260						10	260	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	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		8	411						8	411	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1257)tgccccfs	p.CP418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.CP383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.5																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1252-1254)tccfs		protein inhibitor of activated STAT, 3																																				SO:0001589	frameshift_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584022_145584023insC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1259dupC	1.37:g.145584028_145584028dupC	ENSP00000376765:p.Cys418fs		Somatic				PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	p.S418fs	NM_006099.3	NP_006090.2	WXS	Illumina GAIIx	Phase_I	Q9Y6X2	PIAS3_HUMAN			10	1343_1344	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		418					Q9UFI3	Frame_Shift_Ins	INS	ENST00000393045.2	37	c.1253_1254insC	CCDS920.2																																																																																				0.500	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		8	810						8	810	---	---	---	---
NBPF12	149013	broad.mit.edu	37	1	146399620	146399621	+	Frame_Shift_Ins	INS	-	-	C	rs587686634	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:146399620_146399621insC	ENST00000442909.2	+	8	1395_1396	c.559_560insC	c.(559-561)gccfs	p.A187fs	NBPF12_ENST00000309471.8_Frame_Shift_Ins_p.A112fs|NBPF12_ENST00000446760.2_Frame_Shift_Ins_p.A187fs			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	21	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						GGAATCATCTGCCCCCAGGTAA	0.416																																						ENST00000442909.2																			0				ovary(2)	2						c.(559-561)cccfs		neuroblastoma breakpoint family, member 12																																				SO:0001589	frameshift_variant	149013							g.chr1:146399620_146399621insC	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.564dupC	1.37:g.146399625_146399625dupC	ENSP00000391116:p.Ala187fs		Somatic				NBPF12_ENST00000309471.8_Frame_Shift_Ins_p.P112fs|NBPF12_ENST00000446760.2_Frame_Shift_Ins_p.P187fs	p.P187fs			WXS	Illumina GAIIx	Phase_I					8	1395_1396	+								O95877	Frame_Shift_Ins	INS	ENST00000442909.2	37	c.559_560insC																																																																																					0.416	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		7	1004						7	1004	---	---	---	---
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G	rs548049340		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)ccafs	p.P19fs	RFX5_ENST00000452671.2_Frame_Shift_Ins_p.P19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.P19fs|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.P19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(55-57)cggfs		regulatory factor X, 5 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151318740_151318741insG		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.57dupC	1.37:g.151318747_151318747dupG	ENSP00000290524:p.Pro19fs		Somatic				RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs	p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	WXS	Illumina GAIIx	Phase_I	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	234_235	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	c.56_57insC	CCDS994.1																																																																																				0.554	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		11	358						11	358	---	---	---	---
SPRR2G	6706	broad.mit.edu	37	1	153122497	153122498	+	Frame_Shift_Ins	INS	-	-	G	rs141920106	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:153122497_153122498insG	ENST00000368748.4	-	2	127_128	c.89_90insC	c.(88-90)ccgfs	p.P30fs		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	30	3 X 9 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.609																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(88-90)caafs		small proline-rich protein 2G																																				SO:0001589	frameshift_variant	6706				keratinization	cornified envelope|cytoplasm		g.chr1:153122497_153122498insG	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.90dupC	1.37:g.153122502_153122502dupG	ENSP00000357737:p.Pro30fs		Somatic					p.Q30fs	NM_001014291.3	NP_001014313.1	WXS	Illumina GAIIx	Phase_I	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	127_128	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		30			3 X 9 AA approximate tandem repeats.			Frame_Shift_Ins	INS	ENST00000368748.4	37	c.89_90insC	CCDS30868.1																																																																																				0.609	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			7	485						7	485	---	---	---	---
S100A2	6273	broad.mit.edu	37	1	153536226	153536226	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:153536226delA	ENST00000368708.3	-	2	497	c.125delT	c.(124-126)ctgfs	p.L42fs	S100A2_ENST00000487430.2_Frame_Shift_Del_p.L42fs|S100A2_ENST00000368709.1_Frame_Shift_Del_p.L42fs|S100A2_ENST00000497140.1_Frame_Shift_Del_p.L9fs|S100A2_ENST00000368710.1_Frame_Shift_Del_p.L42fs|S100A2_ENST00000368707.4_Frame_Shift_Del_p.L42fs	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	43	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AAAGCTGGGCAGCTCCTTGTG	0.582																																						ENST00000368708.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(124-126)cgfs		S100 calcium binding protein A2							149.0	128.0	136.0					1																	153536226		2203	4300	6503	SO:0001589	frameshift_variant	6273				endothelial cell migration		calcium ion binding	g.chr1:153536226delA	BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.125delT	1.37:g.153536226delA	ENSP00000357697:p.Leu42fs		Somatic				S100A2_ENST00000368710.1_Frame_Shift_Del_p.L42fs|S100A2_ENST00000497140.1_Frame_Shift_Del_p.L9fs|S100A2_ENST00000368707.4_Frame_Shift_Del_p.L42fs|S100A2_ENST00000487430.2_Frame_Shift_Del_p.L42fs|S100A2_ENST00000368709.1_Frame_Shift_Del_p.L42fs	p.L42fs	NM_005978.3	NP_005969.1	WXS	Illumina GAIIx	Phase_I	P29034	S10A2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	497	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		43			EF-hand 1.		O00266|Q3KRB9|Q5RHS8|Q9BU83	Frame_Shift_Del	DEL	ENST00000368708.3	37	c.125delT	CCDS1044.1																																																																																				0.582	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978		8	175						8	175	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(124-126)aacfs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491185_155491186insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.126dupA	1.37:g.155491192_155491192dupT	ENSP00000357330:p.Asn42fs		Somatic				ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs	p.N42fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	764_765	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		42					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.125_126insA																																																																																					0.431	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		12	1505						12	1505	---	---	---	---
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	303						12	303	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)gtafs	p.V639fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.V623fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATGCAGGAGTACCCCCCGGGGT	0.673																																						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.(1915-1917)actfs		immunoglobulin superfamily, member 9																																				SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159900127_159900128insC	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.1916dupG	1.37:g.159900133_159900133dupC	ENSP00000357073:p.Val639fs		Somatic				IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	p.T639fs	NM_001135050.1	NP_001128522.1	WXS	Illumina GAIIx	Phase_I	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	2112_2113	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	639			Fibronectin type-III 2.			Frame_Shift_Ins	INS	ENST00000368094.1	37	c.1915_1916insG	CCDS44254.1																																																																																				0.673	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		18	691						18	691	---	---	---	---
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		7	567						7	567	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012017	160012018	+	Frame_Shift_Ins	INS	-	-	G	rs372156619|rs561081191		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160012017_160012018insG	ENST00000368089.3	-	2	531_532	c.305_306insC	c.(304-306)ccgfs	p.P102fs	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	102					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TGTGGTTGGCCGGGGGGTCCAG	0.584																																					GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(304-306)cgcfs		potassium inwardly-rectifying channel, subfamily J, member 10																																				SO:0001589	frameshift_variant	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012017_160012018insG	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.306dupC	1.37:g.160012023_160012023dupG	ENSP00000357068:p.Pro102fs		Somatic				KCNJ10_ENST00000509700.1_5'UTR	p.R102fs	NM_002241.4	NP_002232.2	WXS	Illumina GAIIx	Phase_I	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	531_532	-	all_hematologic(112;0.093)		102					A3KME7|Q5VUT9|Q8N4I7|Q92808	Frame_Shift_Ins	INS	ENST00000368089.3	37	c.305_306insC	CCDS1193.1																																																																																				0.584	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		10	659						10	659	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(286-288)gggfs	p.G96fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.G96fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	96					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(283-288)ttggggfs		ATPase, Na+/K+ transporting, alpha 2 polypeptide																																				SO:0001589	frameshift_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093110_160093111insG	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.291dupG	1.37:g.160093116_160093116dupG	ENSP00000354490:p.Gly96fs		Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs	p.LG95fs	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	374_375	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		95					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Ins	INS	ENST00000361216.3	37	c.285_286insG	CCDS1196.1																																																																																				0.604	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		8	711						8	711	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160160760	160160761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160160760_160160761insC	ENST00000368078.3	+	1	415_416	c.219_220insC	c.(220-222)cccfs	p.P74fs	CASQ1_ENST00000368079.3_Frame_Shift_Ins_p.P68fs			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	74					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTACCATGAACCCCCCGAGGA	0.52																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(199-204)gaccccfs		calsequestrin 1 (fast-twitch, skeletal muscle)																																				SO:0001589	frameshift_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160760_160160761insC	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.225dupC	1.37:g.160160766_160160766dupC	ENSP00000357057:p.Pro74fs		Somatic				CASQ1_ENST00000368078.3_Frame_Shift_Ins_p.DP73fs	p.DP67fs	NM_001231.4	NP_001222.3	WXS	Illumina GAIIx	Phase_I	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	476_477	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		73					B1AKZ2|B2R863|Q8TBW7	Frame_Shift_Ins	INS	ENST00000368078.3	37	c.201_202insC	CCDS1198.2																																																																																				0.520	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		7	205						7	205	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		11	242						11	242	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs	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		10	428						10	428	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					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)	p.L408fs*49(2)|p.L408L(2)		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						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	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.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	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.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs		Somatic				PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			9	528						9	528	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179078403	179078404	+	Frame_Shift_Ins	INS	-	-	G	rs138240636	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:179078403_179078404insG	ENST00000502732.1	-	12	2201_2202	c.1998_1999insC	c.(1996-2001)cccaaafs	p.K667fs	ABL2_ENST00000512653.1_Frame_Shift_Ins_p.K652fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.K631fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.K667fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.K646fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.K631fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.K652fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.K646fs	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	667					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)	CTGCTGCGTTTGGGGGGTGTAG	0.505			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.(1996-2001)ccaacgfs		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.chr1:179078403_179078404insG	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.1999dupC	1.37:g.179078409_179078409dupG	ENSP00000427562:p.Lys667fs		Somatic				ABL2_ENST00000511413.1_Frame_Shift_Ins_p.T667fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.T646fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.T631fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.T646fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.T631fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.T652fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.T652fs	p.T667fs	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			12	2201_2202	-			667					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Frame_Shift_Ins	INS	ENST00000502732.1	37	c.1998_1999insC	CCDS30947.1																																																																																				0.505	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		15	495						15	495	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		15	474						15	474	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4504-4506)cccfs	p.P1502fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.P1494fs|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.P1108fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.P1455fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.P1442fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.P1499fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1502					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4501-4506)gaccccfs		neuron navigator 1																																				SO:0001589	frameshift_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779175_201779176insC	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4509dupC	1.37:g.201779181_201779181dupC	ENSP00000356265:p.Pro1502fs		Somatic				NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA	p.DP1501fs	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			23	4923_4924	+			1501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Frame_Shift_Ins	INS	ENST00000367296.4	37	c.4503_4504insC	CCDS1414.2																																																																																				0.525	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		11	362						11	362	---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202862507	202862508	+	Frame_Shift_Ins	INS	-	-	C	rs573767086		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:202862507_202862508insC	ENST00000367261.3	-	11	1657_1658	c.1439_1440insG	c.(1438-1440)ggafs	p.G480fs	KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.G518fs|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	480	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACCATCAAATCCCCCCACCAC	0.455																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1438-1440)gttfs		kelch-like family member 12																																				SO:0001589	frameshift_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202862507_202862508insC	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1440dupG	1.37:g.202862513_202862513dupC	ENSP00000356230:p.Gly480fs		Somatic				KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.V518fs	p.V480fs	NM_021633.2	NP_067646.1	WXS	Illumina GAIIx	Phase_I	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		11	1657_1658	-			480			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Ins	INS	ENST00000367261.3	37	c.1439_1440insG	CCDS1429.1																																																																																				0.455	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		7	752						7	752	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367219.3_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_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	p.T85fs	NM_001684.4	NP_001675.3	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		8	233						8	233	---	---	---	---
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		10	658						10	658	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)cacfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta																																				SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438071_204438072insG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.860dupC	1.37:g.204438078_204438078dupG	ENSP00000356155:p.Arg287fs		Somatic				PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	p.H287fs	NM_002646.3	NP_002637.3	WXS	Illumina GAIIx	Phase_I	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415_1416	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Ins	INS	ENST00000367187.3	37	c.859_860insC	CCDS1446.1																																																																																				0.624	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		9	205						9	205	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR	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_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_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		24	567						24	567	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G	rs200374067	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594																																						ENST00000367033.3																			1	Deletion - Frameshift(1)	p.H465fs*57(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1393-1395)tggfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315786_208315787insG	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1394dupC	1.37:g.208315793_208315793dupG	ENSP00000356000:p.His465fs		Somatic					p.W465fs	NM_025179.3	NP_079455.3	WXS	Illumina GAIIx	Phase_I	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2150_2151	-			465			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1393_1394insC	CCDS31013.1																																																																																				0.594	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		15	913						15	913	---	---	---	---
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		8	547						8	547	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210796965	210796966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:210796965_210796966insG	ENST00000367010.1	+	11	1568_1569	c.1341_1342insG	c.(1342-1344)gggfs	p.G448fs	HHAT_ENST00000261458.3_Frame_Shift_Ins_p.G448fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.G448fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.G449fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.G448fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.G311fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.G383fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.G385fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.G138fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.G403fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	448	GTP-binding. {ECO:0000305}.		G -> E (in a melanoma cell line; abolishes GTP-binding).		multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.G448W(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGTATTTCTTGGGGGCAATGA	0.49																																						ENST00000367010.1																			1	Substitution - Missense(1)	p.G448W(1)	lung(1)	breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1339-1344)ctggggfs		hedgehog acyltransferase																																				SO:0001589	frameshift_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796965_210796966insG	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1346dupG	1.37:g.210796970_210796970dupG	ENSP00000355977:p.Gly448fs		Somatic				HHAT_ENST00000541565.1_Frame_Shift_Ins_p.LG310fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.LG382fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.LG402fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.LG137fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.LG448fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.LG384fs	p.LG447fs	NM_001170580.1	NP_001164051.1	WXS	Illumina GAIIx	Phase_I	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1568_1569	+			447					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Frame_Shift_Ins	INS	ENST00000367010.1	37	c.1341_1342insG	CCDS1495.1																																																																																				0.490	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		10	1030						10	1030	---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(394-396)cccfs	p.P132fs	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.P132fs	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		8	253						8	253	---	---	---	---
WNT9A	7483	broad.mit.edu	37	1	228111953	228111954	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:228111953_228111954insC	ENST00000272164.5	-	3	510_511	c.500_501insG	c.(499-501)ggcfs	p.G167fs		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	167					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629																																						ENST00000272164.5																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.G167fs*38(1)|p.C168fs*6(1)	large_intestine(1)|pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(499-501)gtgfs		wingless-type MMTV integration site family, member 9A																																				SO:0001589	frameshift_variant	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228111953_228111954insC	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.501dupG	1.37:g.228111960_228111960dupC	ENSP00000272164:p.Gly167fs		Somatic				WNT9A_ENST00000497852.1_Intron	p.V167fs	NM_003395.2	NP_003386.1	WXS	Illumina GAIIx	Phase_I	O14904	WNT9A_HUMAN			3	510_511	-		Prostate(94;0.0405)	167					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Frame_Shift_Ins	INS	ENST00000272164.5	37	c.500_501insG	CCDS31045.1																																																																																				0.629	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		7	128						7	128	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)ggcfs	p.G304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.G216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				ACATCGTGGTGCCCCCCGACAT	0.589																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(910-912)gacfs		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)																																			SO:0001589	frameshift_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567546_229567547insC	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.912dupG	1.37:g.229567552_229567552dupC	ENSP00000355645:p.Gly304fs		Somatic				ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	p.D304fs	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1013_1014	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	304					P02568|P99020|Q5T8M9	Frame_Shift_Ins	INS	ENST00000366684.3	37	c.911_912insG	CCDS1578.1																																																																																				0.589	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		8	287						8	287	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248844881	248844882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:248844881_248844882insG	ENST00000342623.3	-	1	747_748	c.724_725insC	c.(724-726)cagfs	p.Q242fs		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCAG	0.465																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(724-726)gctfs		olfactory receptor, family 14, subfamily I, member 1																																				SO:0001589	frameshift_variant	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844881_248844882insG		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.725dupC	1.37:g.248844887_248844887dupG	ENSP00000339726:p.Gln242fs		Somatic					p.A242fs	NM_001004734.1	NP_001004734.1	WXS	Illumina GAIIx	Phase_I	A6ND48	O14I1_HUMAN			1	747_748	-			242						Frame_Shift_Ins	INS	ENST00000342623.3	37	c.724_725insC	CCDS31125.1																																																																																				0.465	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		7	213						7	213	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-66)gtggggfs	p.VG21fs	KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.VG21fs|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(61-63)gggfs		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3																																				SO:0001589	frameshift_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112337_18112338insG	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.68dupG	2.37:g.18112343_18112343dupG	ENSP00000385968:p.Val21fs		Somatic				KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs	p.G21fs			WXS	Illumina GAIIx	Phase_I	Q9BQ31	KCNS3_HUMAN			3	513_514	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		21					D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Ins	INS	ENST00000403915.1	37	c.62_63insG	CCDS1692.1																																																																																				0.535	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		11	553						11	553	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)ccafs	p.P778fs	ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.P518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.P750fs|ASXL2_ENST00000404843.1_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_ENST00000272341.4_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_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		8	264						8	264	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1_ENST00000406785.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.P786fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2272-2274)cacfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)																																			SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366704_40366705insG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2382dupC	2.37:g.40366710_40366710dupG	ENSP00000384763:p.Pro794fs		Somatic				SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA	p.H758fs			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			7	2462_2463	-			794					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Ins	INS	ENST00000403092.1	37	c.2273_2274insC	CCDS1806.1																																																																																				0.515	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		7	519						7	519	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G	rs587781544		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:48030796_48030797insG	ENST00000234420.5	+	5	3562_3563	c.3410_3411insG	c.(3409-3414)atggggfs	p.MG1137fs	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.MG1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.MG835fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3409-3411)aggfs	Mismatch excision repair (MMR)	mutS homolog 6																																				SO:0001589	frameshift_variant	2956	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	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48030796_48030797insG	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3416dupG	2.37:g.48030802_48030802dupG	ENSP00000234420:p.Met1137fs		Somatic				FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs	p.R1137fs	NM_000179.2	NP_000170.1	WXS	Illumina GAIIx	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	3562_3563	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1137					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Ins	INS	ENST00000234420.5	37	c.3410_3411insG	CCDS1836.1																																																																																				0.376	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		7	870						7	870	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1152)taccccfs	p.YP383fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.YP366fs|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(1147-1149)tccfs		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1																																				SO:0001589	frameshift_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71191572_71191573insC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1155dupC	2.37:g.71191579_71191579dupC	ENSP00000234396:p.Tyr383fs		Somatic	OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs|AC007040.11_ENST00000606025.1_Intron	p.S383fs	NM_001692.3	NP_001683.2	WXS	Illumina GAIIx	Phase_I	P15313	VATB1_HUMAN			12	1221_1222	+			383					Q53FY0|Q6P4H6	Frame_Shift_Ins	INS	ENST00000234396.4	37	c.1148_1149insC	CCDS1912.1																																																																																				0.545	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		9	206						9	206	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C	rs398123786		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4197)tgccccfs	p.CP1398fs	DYSF_ENST00000394120.2_Frame_Shift_Ins_p.CP1399fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.CP1429fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.CP1399fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000409744.1_Frame_Shift_Ins_p.CP1385fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.CP1415fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.CP1416fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.CP1430fs|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.CP1398fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM053841	DYSF	M		c.(4192-4194)tccfs		dysferlin																																				SO:0001589	frameshift_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71839796_71839797insC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4200dupC	2.37:g.71839803_71839803dupC	ENSP00000258104:p.Cys1398fs		Somatic				DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs	p.S1398fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			39	4470_4471	+			1398					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Ins	INS	ENST00000258104.3	37	c.4193_4194insC	CCDS1918.1																																																																																				0.619	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		8	96						8	96	---	---	---	---
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		LBX2_ENST00000341396.2_5'Flank|PCGF1_ENST00000480844.2_Splice_Site|LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000550249.1_5'Flank	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.53																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.e6-2		polycomb group ring finger 1																																				SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74732899_74732900insG	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.531-2->C	2.37:g.74732905_74732905dupG			Somatic				PCGF1_ENST00000480844.2_Splice_Site		NM_032673.2	NP_116062.2	WXS	Illumina GAIIx	Phase_I	Q9BSM1	PCGF1_HUMAN			6	1442	-								Q7Z506	Splice_Site	INS	ENST00000233630.6	37		CCDS1946.2																																																																																				0.530	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	13	1328						13	1328	---	---	---	---
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1005)ctggggfs	p.LG334fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.LG334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.LG231fs|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416																																						ENST00000323701.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(1000-1002)cggfs		ubiquitin specific peptidase 39																																				SO:0001589	frameshift_variant	10713				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr2:85863227_85863228insG	AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1007dupG	2.37:g.85863233_85863233dupG	ENSP00000312981:p.Leu334fs		Somatic				USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs	p.R334fs	NM_006590.3	NP_006581.2	WXS	Illumina GAIIx	Phase_I	Q53GS9	SNUT2_HUMAN			7	1011_1012	+			334					A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Frame_Shift_Ins	INS	ENST00000323701.6	37	c.1001_1002insG	CCDS33234.1																																																																																				0.416	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590		9	716						9	716	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98914463	98914464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:98914463_98914464insG	ENST00000477737.1	+	24	3455_3456	c.3251_3252insG	c.(3250-3255)gtggggfs	p.VG1084fs	VWA3B_ENST00000490947.2_3'UTR|AC092675.1_ENST00000401293.1_RNA	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1084										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCACGCCTGTGGGGGGCGCCA	0.584																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3250-3252)gggfs		von Willebrand factor A domain containing 3B																																				SO:0001589	frameshift_variant	200403							g.chr2:98914463_98914464insG	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3257dupG	2.37:g.98914469_98914469dupG	ENSP00000417955:p.Val1084fs		Somatic				VWA3B_ENST00000490947.2_3'UTR	p.G1084fs	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			24	3455_3456	+			1084					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	ENST00000477737.1	37	c.3251_3252insG	CCDS42718.1																																																																																				0.584	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		12	501						12	501	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)tccfs	p.S241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.S241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.S241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGTGATCATTTCCCCCCTCAAG	0.49																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(721-723)cccfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638681_102638682insC	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.727dupC	2.37:g.102638687_102638687dupC	ENSP00000330959:p.Ser241fs		Somatic				IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	p.P241fs	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			6	950_951	+			241			Ig-like C2-type 3.		D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.721_722insC	CCDS2054.1																																																																																				0.490	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		7	561						7	561	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102644748	102644749	+	Frame_Shift_Ins	INS	-	-	G	rs145225100		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:102644748_102644749insG	ENST00000332549.3	+	9	1320_1321	c.1091_1092insG	c.(1090-1095)ttggggfs	p.LG364fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.LG364fs|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	364					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TTCTTGGTTTTGGGGGGAATAT	0.515																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(1090-1092)tggfs		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001589	frameshift_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102644748_102644749insG	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1097dupG	2.37:g.102644754_102644754dupG	ENSP00000330959:p.Leu364fs		Somatic				IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.W364fs	p.W364fs	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			9	1320_1321	+			364					D3DVJ5|Q6LCE6|Q9UE68	Frame_Shift_Ins	INS	ENST00000332549.3	37	c.1091_1092insG	CCDS2054.1																																																																																				0.515	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		7	327						7	327	---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:109539836_109539837insG	ENST00000258443.2	-	5	859_860	c.429_430insC	c.(427-432)cccaacfs	p.N144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.N144fs|EDAR_ENST00000409271.1_Frame_Shift_Ins_p.N144fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(427-432)ccacacfs		ectodysplasin A receptor																																				SO:0001589	frameshift_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109539836_109539837insG	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.430dupC	2.37:g.109539842_109539842dupG	ENSP00000258443:p.Asn144fs		Somatic				EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs	p.H144fs			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			6	872_873	-			144					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Ins	INS	ENST00000258443.2	37	c.429_430insC	CCDS2081.1																																																																																				0.535	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			16	413						16	413	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:128707524_128707525insG	ENST00000259235.3	-	17	2817_2818	c.2688_2689insC	c.(2686-2691)cccattfs	p.I897fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.I905fs|SAP130_ENST00000357702.5_Frame_Shift_Ins_p.I932fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.46																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2791-2796)ccttacfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128707524_128707525insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2689dupC	2.37:g.128707530_128707530dupG	ENSP00000259235:p.Ile897fs		Somatic				SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs	p.Y932fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	18	2924_2925	-	Colorectal(110;0.1)		897			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.2793_2794insC	CCDS2153.1																																																																																				0.460	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		8	998						8	998	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)gcafs	p.A749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTTTACTTGCCCCCCGAAAG	0.485																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Insertion - Frameshift(1)	p.A749fs*3(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(2245-2247)aagfs		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)																																			SO:0001589	frameshift_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256860_163256861insC	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2246dupG	2.37:g.163256866_163256866dupC	ENSP00000331727:p.Ala749fs		Somatic					p.K749fs	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			10	2344_2345	-			749					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	c.2245_2246insG	CCDS2219.1																																																																																				0.485	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		8	359						8	359	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	511					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2053-2058)acggggfs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099957_168099958insG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2062dupG	2.37:g.168099964_168099964dupG	ENSP00000386840:p.Gly686fs		Somatic				XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	p.TG685fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	2144_2145	+			510					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.2055_2056insG	CCDS42769.1																																																																																				0.421	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		11	310						11	310	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:171240258_171240259insC	ENST00000408978.4	+	12	1367_1368	c.1224_1225insC	c.(1225-1227)cccfs	p.P409fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.P409fs|MYO3B_ENST00000334231.6_Frame_Shift_Ins_p.P418fs	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_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR	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			15	400						15	400	---	---	---	---
HOXD11	3237	broad.mit.edu	37	2	176973637	176973638	+	Frame_Shift_Ins	INS	-	-	C	rs369831126		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:176973637_176973638insC	ENST00000249504.5	+	2	854_855	c.784_785insC	c.(784-786)gccfs	p.A262fs	AC009336.1_ENST00000401374.2_RNA|HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	262					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTTGCAGTTGCCCCCCAGCGG	0.619			T	NUP98	AML																																	ENST00000249504.5				Dom	yes		2	2q31-q32	3237	T	homeo box D11			L	NUP98		AML		0											c.(784-786)cccfs		homeobox D11																																				SO:0001589	frameshift_variant	3237					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176973637_176973638insC		CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.790dupC	2.37:g.176973643_176973643dupC	ENSP00000249504:p.Ala262fs		Somatic				HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	p.P262fs	NM_021192.2	NP_067015.2	WXS	Illumina GAIIx	Phase_I	P31277	HXD11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	2	854_855	+			262					A6NIS4|Q9NS02	Frame_Shift_Ins	INS	ENST00000249504.5	37	c.784_785insC	CCDS2265.1																																																																																				0.619	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359250.2			7	363						7	363	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	GRCh37	CI992797	NEUROD1	I		c.(616-618)cctfs		neuronal differentiation 1																																				SO:0001589	frameshift_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182542971_182542972insG	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.617dupC	2.37:g.182542978_182542978dupG	ENSP00000295108:p.His206fs		Somatic				NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.P206fs	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	1073_1074	-			206					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Ins	INS	ENST00000295108.3	37	c.616_617insC	CCDS2283.1																																																																																				0.619	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		16	348						16	348	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.R523fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.R513fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTATTTCAAGGGGGGGACTG	0.431																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)gggfs		integrin, alpha V																																				SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521084_187521085insG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1682dupG	2.37:g.187521091_187521091dupG	ENSP00000261023:p.Arg559fs		Somatic				ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	p.G559fs	NM_002210.3	NP_002201.1	WXS	Illumina GAIIx	Phase_I	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1949_1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Ins	INS	ENST00000261023.3	37	c.1675_1676insG	CCDS2292.1																																																																																				0.431	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		19	561						19	561	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)gaafs	p.E1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.E485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3517-3519)aaafs		amyotrophic lateral sclerosis 2 (juvenile)																																				SO:0001589	frameshift_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202588159_202588160insC	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3518dupG	2.37:g.202588165_202588165dupC	ENSP00000264276:p.Glu1173fs		Somatic				ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	p.K1173fs	NM_020919.3	NP_065970.2	WXS	Illumina GAIIx	Phase_I	Q96Q42	ALS2_HUMAN			22	3889_3890	-			1173					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Frame_Shift_Ins	INS	ENST00000264276.6	37	c.3517_3518insG	CCDS42800.1																																																																																				0.406	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		7	400						7	400	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:203621968_203621969insC	ENST00000392238.2	+	6	1137_1138	c.1137_1138insC	c.(1138-1140)cccfs	p.P380fs	FAM117B_ENST00000303116.6_Frame_Shift_Ins_p.P136fs			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	380										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485																																						ENST00000303116.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						c.(403-408)ccccccfs		family with sequence similarity 117, member B																																				SO:0001589	frameshift_variant	150864							g.chr2:203621968_203621969insC	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1144dupC	2.37:g.203621975_203621975dupC	ENSP00000376071:p.Pro380fs		Somatic				FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	p.PP135fs	NM_173511.3	NP_775782.2	WXS	Illumina GAIIx	Phase_I	Q6P1L5	F117B_HUMAN			6	1147_1148	+			379					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Frame_Shift_Ins	INS	ENST00000392238.2	37	c.405_406insC	CCDS33362.2																																																																																				0.485	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		10	253						10	253	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs		Somatic				RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR	p.W385fs			WXS	Illumina GAIIx	Phase_I	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		9	279						9	279	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)ccafs	p.P119fs	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.P29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.P119fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.55																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(355-357)cgafs		protein tyrosine phosphatase, receptor type, N																																				SO:0001589	frameshift_variant	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220168477_220168478insG		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.357dupC	2.37:g.220168483_220168483dupG	ENSP00000295718:p.Pro119fs		Somatic				PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|AC114803.3_ENST00000417355.1_RNA	p.R119fs	NM_002846.3	NP_002837.1	WXS	Illumina GAIIx	Phase_I	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	4	596_597	-		Renal(207;0.0474)	119					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Frame_Shift_Ins	INS	ENST00000295718.2	37	c.356_357insC	CCDS2440.1																																																																																				0.550	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			7	411						7	411	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230724115	230724116	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:230724115_230724116insT	ENST00000283943.5	-	3	451_452	c.273_274insA	c.(271-276)aaaccafs	p.P92fs	TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.P134fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.P134fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.P134fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	92					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(271-276)aacaaafs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724115_230724116insT	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.274dupA	2.37:g.230724122_230724122dupT	ENSP00000283943:p.Pro92fs		Somatic				TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.NK133fs	p.NK91fs	NM_004238.1	NP_004229.1	WXS	Illumina GAIIx	Phase_I	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	451_452	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	91					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	c.273_274insA	CCDS33391.1																																																																																				0.436	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	322						7	322	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C	rs373650820		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)gccfs	p.A404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.A168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.A403fs|INPP5D_ENST00000450745.1_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		19	476						19	476	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs		Somatic				NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	p.P202fs	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		20	301						20	301	---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48732640	48732641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:48732640_48732641insC	ENST00000328631.5	-	2	307_308	c.84_85insG	c.(82-87)gggcacfs	p.H29fs	IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.H83fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000431721.2_Frame_Shift_Ins_p.H84fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.H88fs|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.H87fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.H29fs	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	29					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGCATGAGTGCCCCCCGACCT	0.619																																						ENST00000431721.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(247-252)ggactcfs		inositol hexakisphosphate kinase 2																																				SO:0001589	frameshift_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732640_48732641insC	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.85dupG	3.37:g.48732646_48732646dupC	ENSP00000331103:p.His29fs		Somatic				IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs	p.L84fs	NM_001190316.1	NP_001177245.1	WXS	Illumina GAIIx	Phase_I	Q9UHH9	IP6K2_HUMAN			3	486_487	-			29					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Ins	INS	ENST00000328631.5	37	c.249_250insG	CCDS2777.1																																																																																				0.619	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		8	179						8	179	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(286-288)gggfs		RNA binding motif protein 6																																				SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005144_50005145insG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.293dupG	3.37:g.50005151_50005151dupG	ENSP00000266022:p.Arg96fs		Somatic				RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_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		10	136						10	136	---	---	---	---
ABHD14B	84836	broad.mit.edu	37	3	52003893	52003894	+	Intron	DEL	GA	GA	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:52003893_52003894delGA	ENST00000483233.1	-	4	960				PCBP4_ENST00000355852.2_5'Flank|PCBP4_ENST00000461554.1_5'Flank|ABHD14B_ENST00000487005.1_Intron|ABHD14B_ENST00000395008.2_Intron|RP11-155D18.12_ENST00000488257.1_RNA|RP11-155D18.14_ENST00000489595.2_Intron|ABHD14B_ENST00000525795.1_Intron|ABHD14B_ENST00000461108.1_Frame_Shift_Del_p.F173fs|PCBP4_ENST00000395013.3_5'Flank|ABHD14B_ENST00000315877.10_Intron|ABHD14B_ENST00000361143.5_Intron|PCBP4_ENST00000484633.1_5'Flank|PCBP4_ENST00000428823.2_5'Flank			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B						metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CCCAGATGAGGAAAGCCCAGGG	0.554																																						ENST00000461108.1																			0				large_intestine(2)|lung(1)	3						c.(517-519)tfs		abhydrolase domain containing 14B																																				SO:0001627	intron_variant	84836					cytoplasm|nucleus	hydrolase activity	g.chr3:52003893_52003894delGA	AK075112	CCDS2842.1	3p21.2	2009-01-12			ENSG00000114779	ENSG00000114779		"""Abhydrolase domain containing"""	28235	protein-coding gene	gene with protein product							Standard	NM_032750		Approved	MGC15429, CIB	uc011bdy.2	Q96IU4	OTTHUMG00000157816	ENST00000483233.1:c.453+64TC>-	3.37:g.52003893_52003894delGA			Somatic				RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_Intron|ABHD14B_ENST00000395008.2_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14B_ENST00000525795.1_Intron|ABHD14B_ENST00000361143.5_Intron|ABHD14B_ENST00000315877.10_Intron	p.F173fs			WXS	Illumina GAIIx	Phase_I	Q96IU4	ABHEB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)	3	602_603	-			0					Q86VK8|Q8N8W5	Frame_Shift_Del	DEL	ENST00000483233.1	37	c.518_519delTC	CCDS2842.1																																																																																				0.554	ABHD14B-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349673.1	NM_032750		20	18						20	18	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G	rs201231166		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		9	618						9	618	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118623579	118623580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:118623579_118623580insA	ENST00000393775.2	-	6	1074_1075	c.769_770insT	c.(769-771)tgcfs	p.C257fs	IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.C232fs|IGSF11_ENST00000354673.2_Frame_Shift_Ins_p.C256fs|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.C233fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.C256fs	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	257					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C256fs*17(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCAATGCAAAAAATGATA	0.347																																						ENST00000354673.2																			1	Insertion - Frameshift(1)	p.C256fs*17(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(766-768)catfs		immunoglobulin superfamily, member 11																																				SO:0001589	frameshift_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623579_118623580insA	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.770dupT	3.37:g.118623585_118623585dupA	ENSP00000377370:p.Cys257fs		Somatic				IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.H256fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.H232fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.H257fs|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.H233fs	p.H256fs	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			8	1146_1147	-			257					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Frame_Shift_Ins	INS	ENST00000393775.2	37	c.766_767insT	CCDS46891.1																																																																																				0.347	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			7	330						7	330	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs41431347|rs200371896	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:123368043_123368044insG	ENST00000475616.1	-	22	4288		c.e22-2		MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000360772.3_Splice_Site|MYLK_ENST00000360304.3_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													?|GGGGGGGG|GGGGGGGGG|unsure	129	0.0257588	0.034	0.0303	5008	,	,		18148	0.0089		0.0348	False		,,,				2504	0.0194					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.e26-2		myosin light chain kinase																																				SO:0001630	splice_region_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123368043_123368044insG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4289-2->C	3.37:g.123368051_123368051dupG			Somatic				MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4667	-		Lung NSC(201;0.0496)						B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Splice_Site	INS	ENST00000475616.1	37		CCDS46896.1																																																																																				0.624	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	Intron	21	204						21	204	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149192693	149192694	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:149192693_149192694insG	ENST00000305354.4	+	1	933_934	c.29_30insG	c.(28-33)ctggggfs	p.LG10fs		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	10					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACCC	0.535																																						ENST00000305354.4																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9						c.(28-30)cggfs		transmembrane 4 L six family member 4																																				SO:0001589	frameshift_variant	7104					integral to membrane		g.chr3:149192693_149192694insG		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.36dupG	3.37:g.149192700_149192700dupG	ENSP00000305852:p.Leu10fs		Somatic					p.R10fs	NM_004617.3	NP_004608.1	WXS	Illumina GAIIx	Phase_I	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	933_934	+			10					B2RDA4	Frame_Shift_Ins	INS	ENST00000305354.4	37	c.29_30insG	CCDS46932.1																																																																																				0.535	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			7	259						7	259	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)gccfs	p.A253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.A253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGTTAGGATGGCCCCCCGCAAG	0.515																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(757-759)catfs		ATP-binding cassette, sub-family C (CFTR/MRP), member 5																																				SO:0001589	frameshift_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700629_183700630insC	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.758dupG	3.37:g.183700635_183700635dupC	ENSP00000333926:p.Ala253fs		Somatic				ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	p.H253fs	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	997_998	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		253			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	ENST00000334444.6	37	c.757_758insG	CCDS43176.1																																																																																				0.515	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		9	456						9	456	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)accfs	p.T305fs	HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.T331fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.T320fs|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.T305fs|HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.T290fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CACCAGTGGCACCCCCCTCATC	0.54																																					Melanoma(7;227 727 6634 44770)	ENST00000415389.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic																																				SO:0001589	frameshift_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823745_183823746insC	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.919dupC	3.37:g.183823751_183823751dupC	ENSP00000401444:p.Thr305fs		Somatic				HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	p.P305fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	WXS	Illumina GAIIx	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379_1380	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		305					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Frame_Shift_Ins	INS	ENST00000415389.2	37	c.913_914insC	CCDS58868.1																																																																																				0.540	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		8	790						8	790	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195397992	195397993	+	lincRNA	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:195397992_195397993insT	ENST00000445430.1	+	0	919									long intergenic non-protein coding RNA 969																		TAAATGTGTGGTTTTTTGCAGG	0.391																																						ENST00000445430.1																			0																																																			440993							g.chr3:195397992_195397993insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195397998_195397998dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	919	+									RNA	INS	ENST00000445430.1	37																																																																																						0.391	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	817						7	817	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-687)gaccccfs	p.DP228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.DP228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.DP252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.DP228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(682-684)gccfs		family with sequence similarity 193, member A																																				SO:0001589	frameshift_variant	8603							g.chr4:2661592_2661593insC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.690dupC	4.37:g.2661599_2661599dupC	ENSP00000324587:p.Asp228fs		Somatic				FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs	p.A228fs	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			8	1034_1035	+			228					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Ins	INS	ENST00000324666.5	37	c.683_684insC	CCDS58875.1																																																																																				0.525	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		8	656						8	656	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351																																					Colon(86;1802 1843 17863 46794)	ENST00000295256.5																			0				breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7						c.(409-414)gggagafs		hematopoietic prostaglandin D synthase	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223320_95223321insC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.412dupG	4.37:g.95223326_95223326dupC	ENSP00000295256:p.Arg138fs		Somatic					p.R138fs	NM_014485.2	NP_055300.1	WXS	Illumina GAIIx	Phase_I	O60760	HPGDS_HUMAN			5	501_502	-			138			GST C-terminal.		Q6FHT9	Frame_Shift_Ins	INS	ENST00000295256.5	37	c.411_412insG	CCDS3640.1																																																																																				0.351	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		9	730						9	730	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)cagfs	p.Q860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				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)		GCCTCTCGTCTGGGGGGCATCC	0.599																																						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.(2578-2580)gacfs		unc-5 homolog C (C. elegans)																																				SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091356_96091357insG	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.2579dupC	4.37:g.96091362_96091362dupG	ENSP00000406022:p.Gln860fs		Somatic					p.D860fs	NM_003728.3	NP_003719.3	WXS	Illumina GAIIx	Phase_I	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2926_2927	-		Hepatocellular(203;0.114)	860			Death.		Q8IUT0	Frame_Shift_Ins	INS	ENST00000453304.1	37	c.2578_2579insC	CCDS3643.1																																																																																				0.599	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		8	469						8	469	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	654						12	654	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278388	114278389	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:114278388_114278389insA	ENST00000357077.4	+	38	8667_8668	c.8614_8615insA	c.(8614-8616)caafs	p.Q2872fs	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.Q2839fs|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2872					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCTATTCAAAAAACAGAG	0.381																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8614-8616)aaafs		ankyrin 2, neuronal																																				SO:0001589	frameshift_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278388_114278389insA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8620dupA	4.37:g.114278394_114278394dupA	ENSP00000349588:p.Gln2872fs		Somatic				ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.K2839fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	p.K2872fs	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8667_8668	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2839					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	c.8614_8615insA	CCDS3702.1																																																																																				0.381	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	411						7	411	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggagtfs	p.S668fs	FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S550fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S588fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S492fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S668fs|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S668fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		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)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		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)				ACTCCCCCACTCCCCCCACTCT	0.485			"""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"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	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.(1999-2004)gggtggfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	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.chr4:153244155_153244156insC	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.2002dupG	4.37:g.153244161_153244161dupC	ENSP00000281708:p.Ser668fs		Somatic				FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs	p.W668fs	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			12	3230_3231	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	668		S -> G (in dbSNP:rs7679116).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.2001_2002insG	CCDS3777.1																																																																																				0.485	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			7	236						7	236	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000404648.3_Frame_Shift_Ins_p.G430fs|FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs	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		7	571						7	571	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)cctfs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.53									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9946-9948)ccafs		dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766238_13766239insG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9948dupC	5.37:g.13766244_13766244dupG	ENSP00000265104:p.Pro3316fs		Somatic				DNAH5_ENST00000504001.3_Intron	p.P3316fs	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10051_10052	-	Lung NSC(4;0.00476)		3316			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.9947_9948insC	CCDS3882.1																																																																																				0.530	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	548						7	548	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		10	1124						10	1124	---	---	---	---
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			8	565						8	565	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|CTD-2366F13.1_ENST00000502171.2_RNA|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs		Somatic				MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs	p.*85fs			WXS	Illumina GAIIx	Phase_I	O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		12	272						12	272	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		13	287						13	287	---	---	---	---
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	226						12	226	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82948433	82948434	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:82948433_82948434insT	ENST00000274341.4	-	3	1160_1161	c.310_311insA	c.(310-312)accfs	p.T104fs	HAPLN1_ENST00000514416.1_Frame_Shift_Ins_p.T104fs	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	104	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.T104fs*8(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCCTCCATAGGTTTTTTTGTGG	0.441																																						ENST00000274341.4																			2	Insertion - Frameshift(2)	p.T104fs*8(2)	large_intestine(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(310-312)ctafs		hyaluronan and proteoglycan link protein 1																																				SO:0001589	frameshift_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948433_82948434insT		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.311dupA	5.37:g.82948440_82948440dupT	ENSP00000274341:p.Thr104fs		Somatic				HAPLN1_ENST00000514416.1_Frame_Shift_Ins_p.L104fs	p.L104fs	NM_001884.3	NP_001875.1	WXS	Illumina GAIIx	Phase_I	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	1160_1161	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	104			Ig-like V-type.		B2R9A9	Frame_Shift_Ins	INS	ENST00000274341.4	37	c.310_311insA	CCDS4061.1																																																																																				0.441	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		7	363						7	363	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)gggtttfs	p.F2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.F2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(7657-7662)ggttacfs		fibrillin 2																																				SO:0001589	frameshift_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127610310_127610311insC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7660dupG	5.37:g.127610317_127610317dupC	ENSP00000424571:p.Phe2554fs		Somatic				FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs	p.Y2554fs			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	66	8633_8634	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2554			EGF-like 43; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Ins	INS	ENST00000508053.1	37	c.7659_7660insG	CCDS34222.1																																																																																				0.421	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		15	330						15	330	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131007940	131007941	+	Frame_Shift_Ins	INS	-	-	T	rs201816128		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:131007940_131007941insT	ENST00000510461.1	-	14	2291_2292	c.2196_2197insA	c.(2194-2199)aaacctfs	p.P733fs	FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.P688fs|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Frame_Shift_Ins_p.P705fs	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	733					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTATCTGGAGGTTTTTTTTCCA	0.441																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2110-2115)aactccfs		folliculin interacting protein 1																																				SO:0001589	frameshift_variant	96459							g.chr5:131007940_131007941insT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2197dupA	5.37:g.131007948_131007948dupT	ENSP00000421985:p.Pro733fs		Somatic				FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs	p.NS704fs	NM_001008738.2	NP_001008738.2	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2111_2112	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Ins	INS	ENST00000510461.1	37	c.2112_2113insA	CCDS34227.1																																																																																				0.441	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		9	677						9	677	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		13	947						13	947	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2227-2229)cccfs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3																																				SO:0001589	frameshift_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141049509_141049510insG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs		Somatic				ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	p.P743fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		8	906						8	906	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)cccaagfs	p.K224fs	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.48																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(667-672)ccagtcfs		protocadherin 12				5,4259		0,5,2127						5.1	1.0			79	6,8238		0,6,4116	no	frameshift	PCDH12	NM_016580.2		0,11,6243	A1A1,A1R,RR		0.0728,0.1173,0.0879				11,12497				SO:0001589	frameshift_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336747_141336748insG	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.670dupC	5.37:g.141336754_141336754dupG	ENSP00000231484:p.Lys224fs		Somatic					p.V224fs	NM_016580.2	NP_057664.1	WXS	Illumina GAIIx	Phase_I	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879_1880	-		all_hematologic(541;0.0999)	224			Cadherin 2.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Frame_Shift_Ins	INS	ENST00000231484.3	37	c.669_670insC	CCDS4269.1																																																																																				0.480	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		17	403						17	403	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		12	649						12	649	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:149755744_149755745insC	ENST00000504761.2	+	13	1993_1994	c.1993_1994insC	c.(1993-1995)gccfs	p.A665fs	TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.A588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.A665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.A665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240). {ECO:0000269|PubMed:15019983, ECO:0000269|PubMed:8563749, ECO:0000269|PubMed:9074926, ECO:0000269|PubMed:9096354}.		skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1993-1995)cccfs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755744_149755745insC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1999dupC	5.37:g.149755750_149755750dupC	ENSP00000421655:p.Ala665fs		Somatic				TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs	p.P665fs			WXS	Illumina GAIIx	Phase_I	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2101_2102	+		all_hematologic(541;0.224)	665		A -> P (in dbSNP:rs2071240).			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.1993_1994insC	CCDS54936.1																																																																																				0.584	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		7	315						7	315	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G	rs371598238		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)cccaaafs	p.K2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6202-6207)ccaattfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924483_150924484insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6205dupC	5.37:g.150924489_150924489dupG	ENSP00000261800:p.Lys2069fs		Somatic					p.I2069fs	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6216_6217	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2069			Cadherin 17.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.6204_6205insC	CCDS4317.1																																																																																				0.505	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	288						8	288	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1741-1743)gggfs	p.G581fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	658					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.55																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1738-1743)ccggggfs		La ribonucleoprotein domain family, member 1																																				SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181821_154181822insG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1747dupG	5.37:g.154181828_154181828dupG	ENSP00000336721:p.Gly581fs		Somatic					p.PG580fs	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1764_1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	657					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Ins	INS	ENST00000336314.4	37	c.1740_1741insG	CCDS4328.1																																																																																				0.550	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		9	302						9	302	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804|rs199716249	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:156915296_156915297insG	ENST00000517905.1	-	21	2570_2571	c.2526_2527insC	c.(2524-2529)cccgcafs	p.A843fs	ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.A576fs|ADAM19_ENST00000257527.4_Frame_Shift_Ins_p.A843fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.A845fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2524-2529)cccaccfs		ADAM metallopeptidase domain 19																																				SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915296_156915297insG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2527dupC	5.37:g.156915302_156915302dupG	ENSP00000428654:p.Ala843fs		Somatic				ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs	p.T843fs	NM_033274.3	NP_150377.1	WXS	Illumina GAIIx	Phase_I	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2604_2605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	843					Q9BZL5|Q9UHP2	Frame_Shift_Ins	INS	ENST00000517905.1	37	c.2526_2527insC																																																																																					0.564	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		12	360						12	360	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178541085	178541086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:178541085_178541086insG	ENST00000251582.7	-	22	3519_3520	c.3418_3419insC	c.(3418-3420)ctgfs	p.L1140fs		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1140					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGGACCTCCAGGGGGGTGCTT	0.569																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(3418-3420)ggafs		ADAM metallopeptidase with thrombospondin type 1 motif, 2																																				SO:0001589	frameshift_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178541085_178541086insG	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3419dupC	5.37:g.178541091_178541091dupG	ENSP00000251582:p.Leu1140fs		Somatic					p.G1140fs	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	22	3519_3520	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	1140						Frame_Shift_Ins	INS	ENST00000251582.7	37	c.3418_3419insC	CCDS4444.1																																																																																				0.569	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		9	427						9	427	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(751-756)ccccccfs		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)																																				SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557409_10557410insC	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27340->C	6.37:g.10557416_10557416dupC			Somatic				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron	p.PP251fs	NM_001491.2	NP_001482.1	WXS	Illumina GAIIx	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1170_1171	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	253						Frame_Shift_Ins	INS	ENST00000379597.3	37	c.753_754insC	CCDS34338.1																																																																																				0.485	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		9	278						9	278	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_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_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_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		7	211						7	211	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-756)gtggggfs	p.VG251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.VG251fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs			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	237						14	237	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:17837307_17837308insC	ENST00000259711.6	-	11	1061_1062	c.956_957insG	c.(955-957)ggcfs	p.G319fs	KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G319fs|KIF13A_ENST00000378814.5_Frame_Shift_Ins_p.G319fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.45																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(955-957)gaafs		kinesin family member 13A																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17837307_17837308insC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.957dupG	6.37:g.17837313_17837313dupC	ENSP00000259711:p.Gly319fs		Somatic				KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs	p.E319fs	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		11	955_956	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	319					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Ins	INS	ENST00000259711.6	37	c.956_957insG	CCDS47381.1																																																																																				0.450	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			8	230						8	230	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C	rs577436927		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(259-261)cccfs	p.P87fs		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(256-261)gtccccfs		neurensin 1																																				SO:0001589	frameshift_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145844_24145845insC	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.264dupC	6.37:g.24145850_24145850dupC	ENSP00000367752:p.Pro87fs		Somatic					p.VP86fs	NM_080723.4	NP_542454.3	WXS	Illumina GAIIx	Phase_I	Q8IZ57	NRSN1_HUMAN			4	559_560	+			86						Frame_Shift_Ins	INS	ENST00000378491.4	37	c.258_259insC	CCDS4549.1																																																																																				0.485	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		7	246						7	246	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:29627216_29627217insC	ENST00000376917.3	+	2	438_439	c.209_210insC	c.(208-213)cgccccfs	p.RP70fs	MOG_ENST00000494692.1_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376902.3_Frame_Shift_Ins_p.RP70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.RP70fs	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569																																						ENST00000376894.4																			1	Deletion - Frameshift(1)	p.F73fs*29(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(208-210)cccfs		myelin oligodendrocyte glycoprotein																																				SO:0001589	frameshift_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627216_29627217insC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.216dupC	6.37:g.29627223_29627223dupC	ENSP00000366115:p.Arg70fs		Somatic				MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs	p.P70fs			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	327_328	+			70			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Frame_Shift_Ins	INS	ENST00000376917.3	37	c.209_210insC	CCDS34370.1																																																																																				0.569	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		12	242						12	242	---	---	---	---
HCG17	414778	broad.mit.edu	37	6	30230128	30230129	+	lincRNA	INS	-	-	G	rs2523745	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:30230128_30230129insG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA					HLA complex group 17 (non-protein coding)																		AGGTGAGACATGGGGGGGCCTG	0.51																																						ENST00000453558.1																			0																																																			414778							g.chr6:30230128_30230129insG	AB023055		6p21	2012-11-02	2008-08-13		ENSG00000241701	ENSG00000270604		"""Long non-coding RNAs"""	31339	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 46"", ""long intergenic non-protein coding RNA 46"""						Standard	NR_052012		Approved	NCRNA00046, LINC00046	uc031snc.1		OTTHUMG00000031114		6.37:g.30230135_30230135dupG			Somatic				HLA-L_ENST00000463348.1_RNA				WXS	Illumina GAIIx	Phase_I					0	126	-									RNA	INS	ENST00000453558.1	37																																																																																						0.510	HCG17-002	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000256054.1	NR_052012		18	356						18	356	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)ctgfs	p.L939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2815-2817)gccfs		protein phosphatase 1, regulatory subunit 10																																				SO:0001589	frameshift_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569333_30569334insG	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2816dupC	6.37:g.30569340_30569340dupG	ENSP00000365694:p.Leu939fs		Somatic					p.A939fs	NM_002714.3	NP_002705.2	WXS	Illumina GAIIx	Phase_I	Q96QC0	PP1RA_HUMAN			20	3367_3368	-			939					O00405	Frame_Shift_Ins	INS	ENST00000376511.2	37	c.2815_2816insC	CCDS4681.1																																																																																				0.569	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		7	239						7	239	---	---	---	---
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	3'UTR	INS	-	-	G	rs6933271	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:30867830_30867831insG	ENST00000324771.8	+	0	4047_4048				DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.W433fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441																																						ENST00000361741.4																			0				central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29						c.(1297-1299)gggfs		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)																																			SO:0001624	3_prime_UTR_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30867830_30867831insG	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.*758->G	6.37:g.30867836_30867836dupG			Somatic				DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_3'UTR	p.G433fs			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			12	1492_1493	+			0					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Ins	INS	ENST00000324771.8	37	c.1297_1298insG	CCDS34385.1																																																																																				0.441	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		8	468						8	468	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs	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_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	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			13	315						13	315	---	---	---	---
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:32948228_32948229insC	ENST00000374825.4	+	12	3957_3958	c.2256_2257insC	c.(2257-2259)cccfs	p.P753fs	BRD2_ENST00000449085.2_Frame_Shift_Ins_p.P706fs|BRD2_ENST00000395289.2_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.P788fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.P633fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.P753fs	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	753					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.(2359-2364)aaccccfs		bromodomain containing 2																																				SO:0001589	frameshift_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32948228_32948229insC	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2262dupC	6.37:g.32948234_32948234dupC	ENSP00000363958:p.Pro753fs		Somatic				BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs	p.NP787fs			WXS	Illumina GAIIx	Phase_I	P25440	BRD2_HUMAN			13	3962_3963	+			752			ET.|Poly-Ser.|Ser-rich.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Frame_Shift_Ins	INS	ENST00000374825.4	37	c.2361_2362insC	CCDS4762.1																																																																																				0.426	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			8	271						8	271	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs		Somatic				UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		10	894						10	894	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			20	379						20	379	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36196737	36196738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:36196737_36196738insC	ENST00000357641.6	+	12	3591_3592	c.3338_3339insC	c.(3337-3342)gtccccfs	p.VP1113fs	BRPF3_ENST00000543502.1_Frame_Shift_Ins_p.VP843fs|BRPF3_ENST00000339717.7_Frame_Shift_Ins_p.VP843fs|BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.P1081fs|BRPF3_ENST00000443324.2_Frame_Shift_Ins_p.VP779fs|BRPF3_ENST00000534694.1_Frame_Shift_Ins_p.VP779fs	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1113	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCATCCCTGTCCCCCCGCTGG	0.584																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(3337-3339)gccfs		bromodomain and PHD finger containing, 3																																				SO:0001589	frameshift_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36196737_36196738insC	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3344dupC	6.37:g.36196743_36196743dupC	ENSP00000350267:p.Val1113fs		Somatic				BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.CP1080fs|BRPF3_ENST00000443324.2_Frame_Shift_Ins_p.A779fs|BRPF3_ENST00000534694.1_Frame_Shift_Ins_p.A779fs|BRPF3_ENST00000543502.1_Frame_Shift_Ins_p.A843fs|BRPF3_ENST00000339717.7_Frame_Shift_Ins_p.A843fs	p.A1113fs	NM_015695.2	NP_056510.2	WXS	Illumina GAIIx	Phase_I	Q9ULD4	BRPF3_HUMAN			12	3591_3592	+			1113			PWWP.		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Frame_Shift_Ins	INS	ENST00000357641.6	37	c.3338_3339insC	CCDS34437.1																																																																																				0.584	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		7	300						7	300	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42237162	42237163	+	Frame_Shift_Ins	INS	-	-	G	rs140151920	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:42237162_42237163insG	ENST00000372922.4	-	5	728_729	c.166_167insC	c.(166-168)cacfs	p.H56fs	TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.H56fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.H56fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.H56fs|TRERF1_ENST00000541110.1_Frame_Shift_Ins_p.H56fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	56					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGAGGGAAGTGGGGGGAGATT	0.589																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(166-168)cttfs		transcriptional regulating factor 1																																				SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42237162_42237163insG	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.167dupC	6.37:g.42237168_42237168dupG	ENSP00000362013:p.His56fs		Somatic				TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.L56fs|TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.L56fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.L56fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.L56fs	p.L56fs			WXS	Illumina GAIIx	Phase_I	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	734_735	-	Colorectal(47;0.196)		56					Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Ins	INS	ENST00000372922.4	37	c.166_167insC	CCDS4867.1																																																																																				0.589	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	164						7	164	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43227329	43227330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:43227329_43227330insC	ENST00000259750.4	+	12	1392_1393	c.1309_1310insC	c.(1309-1311)gccfs	p.A437fs	TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.A386fs	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTGCGTGCCCCCCCAGAC	0.673																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1309-1311)cccfs		tau tubulin kinase 1																																				SO:0001589	frameshift_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43227329_43227330insC	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1316dupC	6.37:g.43227336_43227336dupC	ENSP00000259750:p.Ala437fs		Somatic				TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs	p.P437fs	NM_032538.1	NP_115927.1	WXS	Illumina GAIIx	Phase_I	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		12	1392_1393	+			437					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Frame_Shift_Ins	INS	ENST00000259750.4	37	c.1309_1310insC	CCDS34455.1																																																																																				0.673	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			4	8						4	8	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(361-363)tttfs	p.F121fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	121					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(358-363)tgttttfs		hypocretin (orexin) receptor 2																																				SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113573_55113574insT	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.366dupT	6.37:g.55113579_55113579dupT	ENSP00000359899:p.Phe121fs		Somatic					p.CF120fs	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	696_697	+	Lung NSC(77;0.107)|Renal(3;0.122)		120					Q5VTM0	Frame_Shift_Ins	INS	ENST00000370862.3	37	c.360_361insT	CCDS4956.1																																																																																				0.431	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			8	919						8	919	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C	rs552318470		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2494-2496)cccfs	p.P832fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	832					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2491-2496)ctccccfs		regulatory factor X, 6																																				SO:0001589	frameshift_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117250016_117250017insC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2499dupC	6.37:g.117250022_117250022dupC	ENSP00000332208:p.Pro832fs		Somatic					p.LP831fs	NM_173560.3	NP_775831.2	WXS	Illumina GAIIx	Phase_I	Q8HWS3	RFX6_HUMAN			18	2509_2510	+			831					Q5T6B3	Frame_Shift_Ins	INS	ENST00000332958.2	37	c.2493_2494insC	CCDS5113.1																																																																																				0.455	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		7	400						7	400	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		11	249						11	249	---	---	---	---
HECA	51696	broad.mit.edu	37	6	139488146	139488147	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:139488146_139488147insG	ENST00000367658.2	+	2	1282_1283	c.997_998insG	c.(997-999)aggfs	p.R333fs	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	333					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589																																						ENST00000367658.2																			1	Insertion - Frameshift(1)	p.H336fs*25(1)	ovary(1)	endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(997-999)gggfs		headcase homolog (Drosophila)																																				SO:0001589	frameshift_variant	51696				respiratory tube development			g.chr6:139488146_139488147insG	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1004dupG	6.37:g.139488153_139488153dupG	ENSP00000356630:p.Arg333fs		Somatic				RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	p.G333fs	NM_016217.2	NP_057301.1	WXS	Illumina GAIIx	Phase_I	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	1282_1283	+			333						Frame_Shift_Ins	INS	ENST00000367658.2	37	c.997_998insG	CCDS5194.1																																																																																				0.589	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		7	181						7	181	---	---	---	---
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C	rs200339078		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1111-1113)cccfs	p.P371fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.49																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(1108-1113)aaccccfs		uronyl-2-sulfotransferase																																				SO:0001589	frameshift_variant	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395141_149395142insC	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.1117dupC	6.37:g.149395148_149395148dupC	ENSP00000356433:p.Pro371fs		Somatic				UST_ENST00000466695.1_3'UTR	p.NP370fs	NM_005715.2	NP_005706.1	WXS	Illumina GAIIx	Phase_I	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1213_1214	+		Ovarian(120;0.0907)	370					B2RCX6	Frame_Shift_Ins	INS	ENST00000367463.4	37	c.1110_1111insC	CCDS5213.1																																																																																				0.490	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		9	189						9	189	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs	AL133260.1_ENST00000408542.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.48																																						ENST00000367321.3																			1	Deletion - Frameshift(1)	p.L914fs*14(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2755-2760)gaaaaafs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151358163_151358164insA	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2763dupA	6.37:g.151358169_151358169dupA	ENSP00000356290:p.Lys920fs		Somatic					p.EK919fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	WXS	Illumina GAIIx	Phase_I	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	26	3031_3032	+		Ovarian(120;0.128)	919			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Ins	INS	ENST00000367321.3	37	c.2757_2758insA	CCDS5228.1																																																																																				0.480	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		9	229						9	229	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs		Somatic					p.C404fs	NM_015718.2	NP_056533.1	WXS	Illumina GAIIx	Phase_I	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			7	578						7	578	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			13	208						13	208	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2968322	2968323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:2968322_2968323insG	ENST00000396946.4	-	13	2066_2067	c.1663_1664insC	c.(1663-1665)cggfs	p.R555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)	p.R548L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1663-1665)gagfs		caspase recruitment domain family, member 11																																				SO:0001589	frameshift_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2968322_2968323insG	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1664dupC	7.37:g.2968329_2968329dupG	ENSP00000380150:p.Arg555fs		Somatic					p.E555fs	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	13	2066_2067	-		Ovarian(82;0.0115)	555					A4D1Z7|Q2NKN7|Q548H3	Frame_Shift_Ins	INS	ENST00000396946.4	37	c.1663_1664insC	CCDS5336.2																																																																																				0.589	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		7	109						7	109	---	---	---	---
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-381)atccccfs	p.IP126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.IP179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	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				FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	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	389						9	389	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:40899961_40899962insC	ENST00000335693.4	+	14	1244_1245	c.1221_1222insC	c.(1222-1224)cccfs	p.P408fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000309930.5_Frame_Shift_Ins_p.P434fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.P360fs	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_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	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			14	603						14	603	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98550874	98550875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:98550874_98550875insC	ENST00000359863.4	+	39	5736_5737	c.5527_5528insC	c.(5527-5529)gccfs	p.A1843fs	TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.A1824fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.A1825fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1843					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A1843T(1)|p.A1825T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGAGCACGCCCCCCACCAC	0.644																																						ENST00000359863.4																			2	Substitution - Missense(2)	p.A1843T(1)|p.A1825T(1)	central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(5527-5529)cccfs		transformation/transcription domain-associated protein																																				SO:0001589	frameshift_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98550874_98550875insC	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5533dupC	7.37:g.98550880_98550880dupC	ENSP00000352925:p.Ala1843fs		Somatic				TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs	p.P1843fs	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		39	5736_5737	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1843					A4D265|O75218|Q9Y631|Q9Y6H4	Frame_Shift_Ins	INS	ENST00000359863.4	37	c.5527_5528insC	CCDS59066.1																																																																																				0.644	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	367						11	367	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		14	189						14	189	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs	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_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|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	1730						9	1730	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142479788	142479789	+	RNA	INS	-	-	A	rs374741191		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:142479788_142479789insA	ENST00000603901.1	+	0	40					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										AGAGCTCCCTCCCTTGCCTAGC	0.55																																						ENST00000603901.1																			0																																																			154754							g.chr7:142479788_142479789insA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479788_142479789insA			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	40	+									RNA	INS	ENST00000603901.1	37																																																																																						0.550	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	110						8	110	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32614020	32614021	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:32614020_32614021insC	ENST00000405005.3	+	9	903_904	c.903_904insC	c.(904-906)cccfs	p.P302fs	NRG1_ENST00000539990.1_Frame_Shift_Ins_p.P145fs|NRG1_ENST00000338921.4_Frame_Shift_Ins_p.P310fs|NRG1_ENST00000287845.5_Frame_Shift_Ins_p.P273fs|NRG1_ENST00000519301.1_Frame_Shift_Ins_p.P252fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.P302fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.P299fs|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.P307fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.P299fs			Q02297	NRG1_HUMAN	neuregulin 1	302					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATCCTAACCCACCCCCCGAGAA	0.495																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(925-930)ccccccfs		neuregulin 1																																				SO:0001589	frameshift_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32614020_32614021insC	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.909dupC	8.37:g.32614026_32614026dupC	ENSP00000384620:p.Pro302fs		Somatic				NRG1_ENST00000287840.5_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.PP144fs|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.PP306fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.PP298fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Frame_Shift_Ins_p.PP251fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.PP298fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000405005.2_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000287845.5_Frame_Shift_Ins_p.PP272fs	p.PP309fs			WXS	Illumina GAIIx	Phase_I	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	10	1444_1445	+		Breast(100;0.203)	301					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Frame_Shift_Ins	INS	ENST00000405005.3	37	c.927_928insC	CCDS6085.1																																																																																				0.495	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			8	266						8	266	---	---	---	---
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	343						12	343	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4654-4656)cccfs		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68128855_68128856insG	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4656dupC	8.37:g.68128862_68128862dupG	ENSP00000262215:p.Pro1552fs		Somatic				ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	p.P1552fs	NM_006421.4	NP_006412.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		33	5044_5045	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1552					Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	ENST00000262215.3	37	c.4655_4656insC	CCDS6199.1																																																																																				0.421	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		8	230						8	230	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G	rs201774043		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(217-219)gggfs	p.G73fs	SULF1_ENST00000419716.3_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.G73fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.G73fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	73					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(214-219)caggggfs		sulfatase 1																																				SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488248_70488249insG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.223dupG	8.37:g.70488255_70488255dupG	ENSP00000260128:p.Gly73fs		Somatic				SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs	p.QG72fs	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	933_934	+	Breast(64;0.0654)		72					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Ins	INS	ENST00000260128.4	37	c.216_217insG	CCDS6204.1																																																																																				0.495	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		9	119						9	119	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G	rs190037930		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-126)gtggggfs	p.VG41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAGATCAATGTGGGGGGCCTCA	0.564																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(121-123)gggfs		potassium voltage-gated channel, Shab-related subfamily, member 2																																				SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480091_73480092insG	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.128dupG	8.37:g.73480097_73480097dupG	ENSP00000430846:p.Val41fs		Somatic					p.G41fs	NM_004770.2	NP_004761.2	WXS	Illumina GAIIx	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	710_711	+	Breast(64;0.137)		41					Q7Z7D0|Q9BXD3	Frame_Shift_Ins	INS	ENST00000523207.1	37	c.122_123insG	CCDS6209.1																																																																																				0.564	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		11	501						11	501	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101252794	101252795	+	Frame_Shift_Del	DEL	CT	CT	-	rs4734455	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:101252794_101252795delCT	ENST00000388798.2	+	18	2635_2636	c.2444_2445delCT	c.(2443-2445)gctfs	p.A815fs	SPAG1_ENST00000251809.3_Frame_Shift_Del_p.A815fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	815					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATTATAAATGCTCTCAGTACCA	0.426																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2443-2445)gfs		sperm associated antigen 1																																				SO:0001589	frameshift_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101252794_101252795delCT	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2444_2445delCT	8.37:g.101252796_101252797delCT	ENSP00000373450:p.Ala815fs		Somatic				SPAG1_ENST00000251809.3_Frame_Shift_Del_p.A815fs	p.A815fs	NM_003114.4	NP_003105.2	WXS	Illumina GAIIx	Phase_I	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	18	2635_2636	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	815					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Frame_Shift_Del	DEL	ENST00000388798.2	37	c.2444_2445delCT	CCDS34930.1																																																																																				0.426	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		45	59						45	59	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)cccgccfs	p.A603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.A603fs	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	603	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CCATCCCCGGCGGGGGGGTGAG	0.644																																						ENST00000220592.5																			0											c.(1804-1809)ccccggfs		argonaute RISC catalytic component 2																																				SO:0001589	frameshift_variant	27161							g.chr8:141554344_141554345insG	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1807dupC	8.37:g.141554351_141554351dupG	ENSP00000220592:p.Ala603fs		Somatic				AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	p.R603fs	NM_012154.3	NP_036286.2	WXS	Illumina GAIIx	Phase_I					14	1918_1919	-								Q8TCZ5|Q8WV58|Q96ID1	Frame_Shift_Ins	INS	ENST00000220592.5	37	c.1806_1807insC	CCDS6380.1																																																																																				0.644	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			14	362						14	362	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94519744	94519745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:94519744_94519745insG	ENST00000375708.3	-	3	470_471	c.272_273insC	c.(271-273)cctfs	p.P91fs	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	91	Ig-like C2-type.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGCACGTTAGGGGGTGGGTT	0.54																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(271-273)caafs		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001589	frameshift_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94519744_94519745insG	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.273dupC	9.37:g.94519749_94519749dupG	ENSP00000364860:p.Pro91fs		Somatic				ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	p.Q91fs	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	Q01974	ROR2_HUMAN			3	470_471	-			91			Ig-like C2-type.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Ins	INS	ENST00000375708.3	37	c.272_273insC	CCDS6691.1																																																																																				0.540	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	871						8	871	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)ggcfs	p.G592fs	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGTAGGCGAAGCCCCCCCAGAC	0.54																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1774-1776)gttfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593322_107593323insC	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1776dupG	9.37:g.107593329_107593329dupC	ENSP00000363868:p.Gly592fs		Somatic					p.V592fs	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2169_2170	-			592					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Ins	INS	ENST00000374736.3	37	c.1775_1776insG	CCDS6762.1																																																																																				0.540	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		17	236						17	236	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs530735519|rs148674204	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)cggfs	p.R1911fs	TNC_ENST00000346706.3_Frame_Shift_Ins_p.R1365fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.R1456fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.R1547fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.R1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.R1638fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.R1729fs|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_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs	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		12	444						12	444	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		13	586						13	586	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)gctfs	p.A65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.52																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(193-195)tccfs		La ribonucleoprotein domain family, member 4B																																				SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:910158_910159insC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.194dupG	10.37:g.910164_910164dupC	ENSP00000326128:p.Ala65fs		Somatic					p.S65fs	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	Q92615	LAR4B_HUMAN			3	233_234	-			65					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Ins	INS	ENST00000316157.3	37	c.193_194insG	CCDS31131.1																																																																																				0.520	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		14	404						14	404	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:13325834_13325835insC	ENST00000263038.4	-	7	741_742	c.683_684insG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396920.3_Frame_Shift_Ins_p.G211fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25	GRCh37	CI040643	PHYH	I		c.(631-633)ggtfs		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13325834_13325835insC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.684dupG	10.37:g.13325840_13325840dupC	ENSP00000263038:p.Gly228fs		Somatic				PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs	p.G211fs			WXS	Illumina GAIIx	Phase_I	O14832	PAHX_HUMAN			7	1036_1037	-		Ovarian(717;0.0448)	228					A8MTS8|B1ALH5	Frame_Shift_Ins	INS	ENST00000263038.4	37	c.632_633insG	CCDS7097.1																																																																																				0.465	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			12	795						12	795	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G	rs573639267	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:21962451_21962452insG	ENST00000307729.7	+	11	1402_1403	c.1224_1225insG	c.(1225-1227)gggfs	p.G409fs	MLLT10_ENST00000377072.3_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.G409fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.G409fs			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		1	Insertion - Frameshift(1)	p.V411fs*3(1)	large_intestine(1)	NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1222-1227)gaggggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10																																				SO:0001589	frameshift_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21962451_21962452insG	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1231dupG	10.37:g.21962458_21962458dupG	ENSP00000307411:p.Gly409fs		Somatic				MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	p.EG408fs	NM_004641.3	NP_004632.1	WXS	Illumina GAIIx	Phase_I	P55197	AF10_HUMAN			11	1572_1573	+			408			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Frame_Shift_Ins	INS	ENST00000307729.7	37	c.1224_1225insG	CCDS55708.1																																																																																				0.436	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			8	339						8	339	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)ccafs	p.P314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.P255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.P174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(940-942)cgafs		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha																																				SO:0001589	frameshift_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830827_22830828insG	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.942dupC	10.37:g.22830834_22830834dupG	ENSP00000365757:p.Pro314fs		Somatic				PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	p.R314fs	NM_005028.4	NP_005019.2	WXS	Illumina GAIIx	Phase_I	P48426	PI42A_HUMAN			8	1169_1170	-			314			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Frame_Shift_Ins	INS	ENST00000376573.4	37	c.941_942insC	CCDS7141.1																																																																																				0.584	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		7	147						7	147	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:24832466_24832467insC	ENST00000376454.3	+	19	4297_4298	c.4267_4268insC	c.(4267-4269)accfs	p.T1423fs	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.T1106fs|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_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_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_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		7	379						7	379	---	---	---	---
MKX	283078	broad.mit.edu	37	10	28023574	28023575	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:28023574_28023575insG	ENST00000375790.5	-	5	1080_1081	c.648_649insC	c.(646-651)cccaaafs	p.K217fs	MKX_ENST00000419761.1_Frame_Shift_Ins_p.K217fs			Q8IYA7	MKX_HUMAN	mohawk homeobox	217					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P216P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTCTTGTATTTGGGGGGTGCCA	0.485																																						ENST00000375790.5																			1	Substitution - coding silent(1)	p.P216P(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(646-651)ccaatafs		mohawk homeobox																																				SO:0001589	frameshift_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023574_28023575insG	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.649dupC	10.37:g.28023580_28023580dupG	ENSP00000364946:p.Lys217fs		Somatic				MKX_ENST00000419761.1_Frame_Shift_Ins_p.I217fs	p.I217fs			WXS	Illumina GAIIx	Phase_I	Q8IYA7	MKX_HUMAN			5	1080_1081	-			217					B3KWM5	Frame_Shift_Ins	INS	ENST00000375790.5	37	c.648_649insC	CCDS7156.1																																																																																				0.485	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		7	346						7	346	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)tggfs	p.W233fs		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	233						cytosol (GO:0005829)											CGAGGACCTGTGGGGGGAGCCC	0.604																																						ENST00000263563.6																			0											c.(697-699)gggfs		phosphatase domain containing, paladin 1																																				SO:0001589	frameshift_variant	27143							g.chr10:72292440_72292441insG	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.703dupG	10.37:g.72292446_72292446dupG	ENSP00000263563:p.Trp233fs		Somatic					p.G233fs	NM_014431.2	NP_055246.2	WXS	Illumina GAIIx	Phase_I					6	965_966	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Frame_Shift_Ins	INS	ENST00000263563.6	37	c.697_698insG	CCDS31215.1																																																																																				0.604	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		17	1006						17	1006	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs	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_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	p.VP456_splice	NM_004922.3	NP_004913.2	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	33	747						33	747	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs		Somatic				ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs	p.P1690fs			WXS	Illumina GAIIx	Phase_I					24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		10	172						10	172	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1719)caccccfs	p.HP572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.HP276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.HP572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.51																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1714-1716)cccfs		cadherin-related family member 1																																				SO:0001589	frameshift_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972096_85972097insC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1721dupC	10.37:g.85972102_85972102dupC	ENSP00000361189:p.His572fs		Somatic				CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	p.P572fs	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1818_1819	+			572			Cadherin 5.		Q69YZ8|Q8IXY5	Frame_Shift_Ins	INS	ENST00000372117.3	37	c.1715_1716insC	CCDS7372.1																																																																																				0.510	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		8	741						8	741	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:93272060_93272061insC	ENST00000298068.5	+	21	2344_2345	c.2250_2251insC	c.(2251-2253)cccfs	p.P751fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.P401fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.P340fs|HECTD2_ENST00000446394.1_Frame_Shift_Ins_p.P755fs	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	751	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2260-2265)ctccccfs		HECT domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93272060_93272061insC	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2256dupC	10.37:g.93272066_93272066dupC	ENSP00000298068:p.Pro751fs		Somatic				HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs	p.LP754fs			WXS	Illumina GAIIx	Phase_I	Q5U5R9	HECD2_HUMAN			22	2362_2363	+			750			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Frame_Shift_Ins	INS	ENST00000298068.5	37	c.2262_2263insC	CCDS7414.1																																																																																				0.356	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			10	553						10	553	---	---	---	---
HOGA1	112817	broad.mit.edu	37	10	99361620	99361621	+	Frame_Shift_Ins	INS	-	-	G	rs61731946	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:99361620_99361621insG	ENST00000370646.4	+	6	1068_1069	c.707_708insG	c.(706-711)gtggggfs	p.VG236fs	PI4K2A_ENST00000370649.3_Frame_Shift_Ins_p.VG73fs|PI4K2A_ENST00000555577.1_Frame_Shift_Ins_p.VG73fs|HOGA1_ENST00000370647.4_Frame_Shift_Ins_p.VG73fs	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	236					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGAGCTGTGGGGGGCGTCT	0.634																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(706-708)gggfs		4-hydroxy-2-oxoglutarate aldolase 1																																				SO:0001589	frameshift_variant	112817							g.chr10:99361620_99361621insG	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.713dupG	10.37:g.99361626_99361626dupG	ENSP00000359680:p.Val236fs		Somatic				PI4K2A_ENST00000370649.3_Frame_Shift_Ins_p.G73fs|HOGA1_ENST00000370647.4_Frame_Shift_Ins_p.G73fs|PI4K2A_ENST00000555577.1_Frame_Shift_Ins_p.G73fs	p.G236fs	NM_138413.3	NP_612422.2	WXS	Illumina GAIIx	Phase_I					6	1068_1069	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Frame_Shift_Ins	INS	ENST00000370646.4	37	c.707_708insG	CCDS7467.1																																																																																				0.634	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		7	238						7	238	---	---	---	---
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(754-756)gggfs	p.G252fs	ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.G252fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.G154fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.G134fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.G220fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.G166fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.G252fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	252					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(751-756)gtggggfs		zinc finger, FYVE domain containing 27																																				SO:0001589	frameshift_variant	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99510176_99510177insG	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.759dupG	10.37:g.99510182_99510182dupG	ENSP00000377282:p.Gly252fs		Somatic				ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs	p.VG251fs	NM_144588.6	NP_653189.3	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	7	957_958	+		Colorectal(252;0.0846)	251					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Ins	INS	ENST00000393677.4	37	c.753_754insG	CCDS31263.1																																																																																				0.599	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		8	392						8	392	---	---	---	---
SFRP5	6425	broad.mit.edu	37	10	99527516	99527518	+	In_Frame_Del	DEL	GCT	GCT	-	rs200830044		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:99527516_99527518delGCT	ENST00000266066.3	-	3	825_827	c.707_709delAGC	c.(706-711)aagcgc>agc	p.236_237KR>S		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	236	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GTGTCCTTGCGCTTCAGGGGGCC	0.606																																						ENST00000266066.3																			0				large_intestine(1)|lung(4)	5						c.(706-711)agc>a		secreted frizzled-related protein 5																																				SO:0001651	inframe_deletion	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99527516_99527518delGCT	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.707_709delAGC	10.37:g.99527516_99527518delGCT	ENSP00000266066:p.Lys236_Arg237delinsSer		Somatic					p.KR236del	NM_003015.3	NP_003006.2	WXS	Illumina GAIIx	Phase_I	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	3	825_827	-		Colorectal(252;0.234)	236			NTR.		O14780|Q86TH7	In_Frame_Del	DEL	ENST00000266066.3	37	c.707_709delAGC	CCDS7472.1																																																																																				0.606	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1	NM_003015		15	57						15	57	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103908247	103908248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:103908247_103908248insC	ENST00000278070.2	+	10	4558_4559	c.4519_4520insC	c.(4519-4521)tccfs	p.S1507fs	PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.S1243fs|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.S474fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1507	Arg-rich.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACGATCCCCATCCCCCCGCCGG	0.554																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4519-4521)cccfs		peroxisome proliferator-activated receptor gamma, coactivator-related 1																																				SO:0001589	frameshift_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103908247_103908248insC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4525dupC	10.37:g.103908253_103908253dupC	ENSP00000278070:p.Ser1507fs		Somatic				PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P474fs|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P1243fs	p.P1507fs	NM_015062.3	NP_055877.3	WXS	Illumina GAIIx	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	10	4558_4559	+		Colorectal(252;0.122)	1507			Arg-rich.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Ins	INS	ENST00000278070.2	37	c.4519_4520insC	CCDS7529.1																																																																																				0.554	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		10	409						10	409	---	---	---	---
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	lincRNA	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			11	206						11	206	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		17	1165						17	1165	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	212						12	212	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7689747	7689748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:7689747_7689748insT	ENST00000533558.1	-	6	989_990	c.433_434insA	c.(433-435)acafs	p.T145fs	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.T145fs			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	145					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGGC	0.52																																						ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(433-435)actfs		cytochrome b5 reductase 2																																				SO:0001589	frameshift_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7689747_7689748insT	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.434dupA	11.37:g.7689754_7689754dupT	ENSP00000437041:p.Thr145fs		Somatic				CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.T145fs	p.T145fs			WXS	Illumina GAIIx	Phase_I	Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	989_990	-			145					Q9BVA3|Q9UF68|Q9UHJ0	Frame_Shift_Ins	INS	ENST00000533558.1	37	c.433_434insA	CCDS7780.1																																																																																				0.520	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		8	415						8	415	---	---	---	---
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C	rs564123868		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	668						12	668	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		7	1369						7	1369	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)cccaacfs	p.N220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.N233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.N220fs|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(655-660)ccactafs		solute carrier family 43, member 3																																				SO:0001589	frameshift_variant	29015				transmembrane transport	integral to membrane		g.chr11:57185234_57185235insG	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.658dupC	11.37:g.57185240_57185240dupG	ENSP00000378555:p.Asn220fs		Somatic				SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs	p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	WXS	Illumina GAIIx	Phase_I	Q8NBI5	S43A3_HUMAN			8	961_962	-			220					B4DNR8|E7EQD2|Q9NSS4	Frame_Shift_Ins	INS	ENST00000395123.2	37	c.657_658insC	CCDS7956.1																																																																																				0.564	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		21	425						21	425	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		12	668						12	668	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG			Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site		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	8	176						8	176	---	---	---	---
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:62458782_62458783insC	ENST00000403550.1	-	7	1205_1206	c.782_783insG	c.(781-783)ggcfs	p.G261fs	LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.G261fs|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.G325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.G261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000433053.1_Frame_Shift_Ins_p.G325fs			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_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR	p.D325fs			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		14	265						14	265	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		9	110						9	110	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2044-2046)cccfs	p.P682fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.P682fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	682					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2041-2046)atccccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1																																				SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194406_70194407insC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2049dupC	11.37:g.70194412_70194412dupC	ENSP00000253925:p.Pro682fs		Somatic				PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	p.IP681fs	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2258_2259	+			681					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Ins	INS	ENST00000253925.7	37	c.2043_2044insC	CCDS31627.1																																																																																				0.554	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		7	688						7	688	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs		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			14	299						14	299	---	---	---	---
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.55																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.e9-2		arrestin, beta 1																																				SO:0001630	splice_region_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74988494_74988495insG	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.619-2->C	11.37:g.74988500_74988500dupG			Somatic				ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site		NM_004041.4	NP_004032.2	WXS	Illumina GAIIx	Phase_I	P49407	ARRB1_HUMAN			9	716	-								B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	INS	ENST00000420843.2	37		CCDS44684.1																																																																																				0.550	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041	Intron	12	677						12	677	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101828931	101828932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:101828931_101828932insA	ENST00000263468.8	+	5	809_810	c.539_540insA	c.(538-543)tcaaaafs	p.SK180fs	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	180										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCGCATTATCAAAAAATGATC	0.332																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(538-540)taafs		KIAA1377																																				SO:0001589	frameshift_variant	57562						protein binding	g.chr11:101828931_101828932insA	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.545dupA	11.37:g.101828937_101828937dupA	ENSP00000263468:p.Ser180fs		Somatic				KIAA1377_ENST00000537689.1_5'UTR	p.*180fs	NM_020802.2	NP_065853.2	WXS	Illumina GAIIx	Phase_I	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	809_810	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	180					Q4G0U6	Frame_Shift_Ins	INS	ENST00000263468.8	37	c.539_540insA	CCDS31658.1																																																																																				0.332	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		7	949						7	949	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cctfs	p.P471fs	RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs	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_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|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		12	379						12	379	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	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		17	889						17	889	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1990-1995)ggagatfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs		Somatic				SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs	p.D665fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			16	1997_1998	-			607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1992_1993insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		7	372						7	372	---	---	---	---
CD3G	917	broad.mit.edu	37	11	118220582	118220583	+	Frame_Shift_Ins	INS	-	-	A	rs570768621|rs199676861	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:118220582_118220583insA	ENST00000532917.1	+	3	272_273	c.204_205insA	c.(205-207)aaafs	p.K69fs	CD3G_ENST00000392883.2_Frame_Shift_Ins_p.K9fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	69	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	TAACTGAAGATAAAAAAAAATG	0.401																																						ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	GRCh37	CM983819	CD3G	M		c.(202-207)gaaaaafs		CD3g molecule, gamma (CD3-TCR complex)																																				SO:0001589	frameshift_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118220582_118220583insA	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.213dupA	11.37:g.118220591_118220591dupA	ENSP00000431445:p.Lys69fs		Somatic				CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Ins_p.EK8fs	p.EK68fs	NM_000073.2	NP_000064.1	WXS	Illumina GAIIx	Phase_I	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	272_273	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	68			Ig-like.		Q2HIZ6	Frame_Shift_Ins	INS	ENST00000532917.1	37	c.204_205insA	CCDS8395.1																																																																																				0.401	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		8	277						8	277	---	---	---	---
DPAGT1	1798	broad.mit.edu	37	11	118969142	118969143	+	Frame_Shift_Ins	INS	-	-	A	rs35482889		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:118969142_118969143insA	ENST00000409993.2	-	7	2249_2250	c.698_699insT	c.(697-699)ttcfs	p.F233fs	DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.F233fs|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.F126fs|DPAGT1_ENST00000445653.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	233					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCAAAGTGGTGAAAAAAAAGGG	0.441																																						ENST00000409993.2																			1	Unknown(1)	p.?(1)	skin(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(697-699)tacfs		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)																																				SO:0001589	frameshift_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118969142_118969143insA	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.699dupT	11.37:g.118969150_118969150dupA	ENSP00000386597:p.Phe233fs		Somatic				DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.Y233fs|DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.Y126fs	p.Y233fs			WXS	Illumina GAIIx	Phase_I	Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	7	2249_2250	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	233					O15216|Q86WV9|Q9BWE6	Frame_Shift_Ins	INS	ENST00000409993.2	37	c.698_699insT	CCDS8411.1																																																																																				0.441	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		14	692						14	692	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cctfs	p.P200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.P200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(598-600)cggfs		coiled-coil domain containing 153				6,4256		0,6,2125						3.6	1.0			88	8,8244		0,8,4118	no	frameshift	CCDC153	NM_001145018.1		0,14,6243	A1A1,A1R,RR		0.0969,0.1408,0.1119				14,12500				SO:0001589	frameshift_variant	283152							g.chr11:119061042_119061043insG		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.600dupC	11.37:g.119061049_119061049dupG	ENSP00000423567:p.Pro200fs		Somatic				CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs	p.R200fs			WXS	Illumina GAIIx	Phase_I	Q494R4	CC153_HUMAN			6	598_599	-			200						Frame_Shift_Ins	INS	ENST00000503566.2	37	c.599_600insC	CCDS44753.1																																																																																				0.569	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		11	264						11	264	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		7	943						7	943	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G	rs373860109		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)ccafs	p.P800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2398-2400)caafs		ADAM metallopeptidase with thrombospondin type 1 motif, 8																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275723_130275724insG	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2400dupC	11.37:g.130275729_130275729dupG	ENSP00000257359:p.Pro800fs		Somatic					p.Q800fs	NM_007037.4	NP_008968.4	WXS	Illumina GAIIx	Phase_I	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	3105_3106	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	800			Spacer.		Q9NZS0	Frame_Shift_Ins	INS	ENST00000257359.6	37	c.2399_2400insC	CCDS41732.1																																																																																				0.579	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		20	1192						20	1192	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C	rs370128549		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1228-1230)cccfs	p.P410fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	410					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1225-1230)taccccfs		galactosidase, beta 1-like 3																																				SO:0001589	frameshift_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181004_134181005insC		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1233dupC	11.37:g.134181010_134181010dupC	ENSP00000396615:p.Pro410fs		Somatic					p.YP409fs	NM_001080407.2	NP_001073876.2	WXS	Illumina GAIIx	Phase_I	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1227_1228	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	409					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Frame_Shift_Ins	INS	ENST00000431683.2	37	c.1227_1228insC	CCDS44780.1																																																																																				0.604	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	1562						11	1562	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs368646629|rs267607359|rs267607360		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccgfs	p.P2377fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.P2377P(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CI983256	VWF	I	rs61750632	c.(7129-7131)ccafs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6091108_6091109insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131dupC	12.37:g.6091114_6091114dupG	ENSP00000261405:p.Pro2377fs		Somatic					p.P2377fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			42	7384_7385	-			2377					Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.7130_7131insC	CCDS8539.1																																																																																				0.604	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	438						10	438	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs62643632|rs62643631	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)ccgfs	p.P812fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129	GRCh37	CD920917|CM074633	VWF	D|M	rs137990643	c.(2434-2436)cggfs		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153463_6153464insG		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2436dupC	12.37:g.6153469_6153469dupG	ENSP00000261405:p.Pro812fs		Somatic					p.R812fs	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2689_2690	-			812			E1.|TIL 3.		Q8TCE8|Q99806	Frame_Shift_Ins	INS	ENST00000261405.5	37	c.2435_2436insC	CCDS8539.1																																																																																				0.594	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	570						10	570	---	---	---	---
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)cccaaafs	p.K42fs	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Intron|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.51																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(121-126)ccaagtfs		mitochondrial ribosomal protein L51																																				SO:0001589	frameshift_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602094_6602095insG	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.124dupC	12.37:g.6602100_6602100dupG	ENSP00000229238:p.Lys42fs		Somatic				MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	p.S42fs	NM_016497.3	NP_057581.2	WXS	Illumina GAIIx	Phase_I	Q4U2R6	RM51_HUMAN			2	584_585	-			42					Q96Q57|Q9BQ36|Q9P0N7	Frame_Shift_Ins	INS	ENST00000229238.3	37	c.123_124insC	CCDS8547.1																																																																																				0.510	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		7	397						7	397	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	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		23	665						23	665	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6965283	6965284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6965283_6965284insG	ENST00000229268.8	+	4	459_460	c.407_408insG	c.(406-411)ctggggfs	p.LG136fs	USP5_ENST00000389231.5_Frame_Shift_Ins_p.LG136fs	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	136					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGGGATGGACTGGGGGGACTGC	0.51																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(406-408)cggfs		ubiquitin specific peptidase 5 (isopeptidase T)																																				SO:0001589	frameshift_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6965283_6965284insG	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.413dupG	12.37:g.6965289_6965289dupG	ENSP00000229268:p.Leu136fs		Somatic				USP5_ENST00000389231.5_Frame_Shift_Ins_p.R136fs	p.R136fs	NM_001098536.1	NP_001092006.1	WXS	Illumina GAIIx	Phase_I	P45974	UBP5_HUMAN			4	459_460	+			136					D3DUS7|D3DUS8|Q96J22	Frame_Shift_Ins	INS	ENST00000229268.8	37	c.407_408insG	CCDS41743.1																																																																																				0.510	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			10	1066						10	1066	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1270-1272)cccfs	p.P424fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.P424fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	424					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1267-1272)caccccfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045699_7045700insC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1275dupC	12.37:g.7045705_7045705dupC	ENSP00000349076:p.Pro424fs		Somatic				ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	p.HP423fs	NM_001007026.1	NP_001007027.1	WXS	Illumina GAIIx	Phase_I	P54259	ATN1_HUMAN			5	1506_1507	+			423					Q99495|Q99621|Q9UEK7	Frame_Shift_Ins	INS	ENST00000356654.4	37	c.1269_1270insC	CCDS31734.1																																																																																				0.614	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		10	387						10	387	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_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		13	551						13	551	---	---	---	---
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)gggttcfs	p.F208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TGGTATAGGAACCCCCCAACAA	0.45																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(619-624)ggtcctfs		mannose-6-phosphate receptor (cation dependent)																																				SO:0001589	frameshift_variant	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9095101_9095102insC		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.622dupG	12.37:g.9095107_9095107dupC	ENSP00000000412:p.Phe208fs		Somatic					p.P208fs	NM_002355.3	NP_002346.1	WXS	Illumina GAIIx	Phase_I	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	6	1089_1090	-		Hepatocellular(102;0.137)	208					A8K528|D3DUV5	Frame_Shift_Ins	INS	ENST00000000412.3	37	c.621_622insG	CCDS8598.1																																																																																				0.450	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			7	552						7	552	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)ccafs	p.P51fs	PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0						extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(151-153)cccfs		proline-rich protein BstNI subfamily 1																																				SO:0001589	frameshift_variant	5542					extracellular region		g.chr12:11506884_11506885insG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.153dupC	12.37:g.11506890_11506890dupG	ENSP00000420826:p.Pro51fs		Somatic				PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs	p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	WXS	Illumina GAIIx	Phase_I	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_190	-			234					Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	c.152_153insC	CCDS8642.1																																																																																				0.579	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		8	963						8	963	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)cccaccfs	p.T1529fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.T1484fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(4582-4587)ccccacfs		low density lipoprotein receptor-related protein 6																																				SO:0001589	frameshift_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12274317_12274318insG	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4585dupC	12.37:g.12274323_12274323dupG	ENSP00000261349:p.Thr1529fs		Somatic				BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs	p.H1529fs	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			23	4660_4661	-		Prostate(47;0.0865)	1529					Q17RZ2	Frame_Shift_Ins	INS	ENST00000261349.4	37	c.4584_4585insC	CCDS8647.1																																																																																				0.465	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			8	831						8	831	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13128321	13128322	+	Frame_Shift_Ins	INS	-	-	C	rs375870689		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:13128321_13128322insC	ENST00000014930.4	-	4	648_649	c.490_491insG	c.(490-492)gacfs	p.D164fs	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|HEBP1_ENST00000540916.1_5'UTR	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	164					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)		GAAGTAGATGTCCCCCCGGTAG	0.579																																						ENST00000014930.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(490-492)catfs		heme binding protein 1																																				SO:0001589	frameshift_variant	50865				circadian rhythm	extracellular region		g.chr12:13128321_13128322insC	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.491dupG	12.37:g.13128327_13128327dupC	ENSP00000014930:p.Asp164fs		Somatic				HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	p.H164fs	NM_015987.4	NP_057071.2	WXS	Illumina GAIIx	Phase_I	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	4	648_649	-		Prostate(47;0.183)	164					A8K1G2|Q9Y5Z5	Frame_Shift_Ins	INS	ENST00000014930.4	37	c.490_491insG	CCDS31749.1																																																																																				0.579	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			8	626						8	626	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			29	1394						29	1394	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			24	298						24	298	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cctfs	p.P520fs		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.55																																						ENST00000261167.2																			1	Insertion - Frameshift(1)	p.G521fs*28(1)	large_intestine(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1558-1560)cggfs		WW domain binding protein 11																																				SO:0001589	frameshift_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940365_14940366insG	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1560dupC	12.37:g.14940372_14940372dupG	ENSP00000261167:p.Pro520fs		Somatic				WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	p.R520fs	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	Q9Y2W2	WBP11_HUMAN			12	1792_1793	-			520			Pro-rich.		Q96AY8	Frame_Shift_Ins	INS	ENST00000261167.2	37	c.1559_1560insC	CCDS8666.1																																																																																				0.550	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		18	390						18	390	---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50571521	50571522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:50571521_50571522insG	ENST00000341247.4	-	11	1754_1755	c.1605_1606insC	c.(1603-1608)cccactfs	p.T536fs	LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.T537fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.T233fs|LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.T375fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.T377fs|LIMA1_ENST00000547825.1_Frame_Shift_Ins_p.T234fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.T376fs	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	536					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGTTCAGTGGGGGGTGGCC	0.54																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(697-702)ccctgafs		LIM domain and actin binding 1																																				SO:0001589	frameshift_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571521_50571522insG	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1606dupC	12.37:g.50571527_50571527dupG	ENSP00000340184:p.Thr536fs		Somatic				LIMA1_ENST00000341247.4_Frame_Shift_Ins_p.*536fs|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.*537fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.*376fs|LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.*375fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.*377fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.*233fs	p.*234fs	NM_001243775.1	NP_001230704.1	WXS	Illumina GAIIx	Phase_I	Q9UHB6	LIMA1_HUMAN			5	1968_1969	-			536					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Frame_Shift_Ins	INS	ENST00000341247.4	37	c.699_700insC	CCDS8802.1																																																																																				0.540	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		10	352						10	352	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)cccgacfs	p.D37fs	AAAS_ENST00000394384.3_Frame_Shift_Ins_p.D37fs|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(106-111)ccacttfs		achalasia, adrenocortical insufficiency, alacrimia																																				SO:0001589	frameshift_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53715141_53715142insG	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.109dupC	12.37:g.53715147_53715147dupG	ENSP00000209873:p.Asp37fs		Somatic				AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs|AAAS_ENST00000550286.1_Intron	p.L37fs	NM_015665.5	NP_056480.1	WXS	Illumina GAIIx	Phase_I	Q9NRG9	AAAS_HUMAN			1	273_274	-			37					Q5JB47|Q9NWI6|Q9UG19	Frame_Shift_Ins	INS	ENST00000209873.4	37	c.108_109insC	CCDS8856.1																																																																																				0.653	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			9	226						9	226	---	---	---	---
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(517-519)cccfs		poly(rC) binding protein 2																																				SO:0001589	frameshift_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53856277_53856278insC	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs		Somatic				PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs	p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	WXS	Illumina GAIIx	Phase_I	Q15366	PCBP2_HUMAN			8	867_868	+			173					A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	ENST00000439930.3	37	c.517_518insC	CCDS44901.1																																																																																				0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		14	326						14	326	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(424-426)accfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898183_53898184insC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC			Somatic				TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs	p.T142fs	NM_134323.1	NP_599150.1	WXS	Illumina GAIIx	Phase_I	Q15633	TRBP2_HUMAN			5	908_909	+			142					Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.425_426insC	CCDS8862.1																																																																																				0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		8	191						8	191	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54943666	54943667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:54943666_54943667insC	ENST00000243052.3	+	2	446_447	c.10_11insC	c.(10-12)tccfs	p.S4fs	PDE1B_ENST00000538346.1_5'Flank	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	4					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.S4Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CATGGAGCTGTCCCCCCGCAGT	0.629																																						ENST00000243052.3																			1	Substitution - Missense(1)	p.S4Y(1)	lung(1)	endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(10-12)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54943666_54943667insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.16dupC	12.37:g.54943672_54943672dupC	ENSP00000243052:p.Ser4fs		Somatic					p.P4fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			2	446_447	+			4					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.10_11insC	CCDS8882.1																																																																																				0.629	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			8	485						8	485	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-447)ttggggfs	p.LG148fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148						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(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(442-444)tggfs		olfactory receptor, family 6, subfamily C, member 4																																				SO:0001589	frameshift_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945453_55945454insG	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.449dupG	12.37:g.55945459_55945459dupG	ENSP00000377799:p.Leu148fs		Somatic				RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.W148fs	NM_001005494.1	NP_001005494.1	WXS	Illumina GAIIx	Phase_I	Q8NGE1	OR6C4_HUMAN			1	471_472	+			148					A8MZG7|B2RNN2|Q6IFK1	Frame_Shift_Ins	INS	ENST00000394256.2	37	c.443_444insG	CCDS31827.1																																																																																				0.455	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			10	722						10	722	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347139	56347140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56347139_56347140insA	ENST00000331886.5	+	23	2523_2524	c.2069_2070insA	c.(2068-2073)acaaaafs	p.TK690fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.TK690fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.TK690fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	690					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TATAGCACCACAAAAACCCTTC	0.465																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2068-2070)aaafs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347139_56347140insA	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2074dupA	12.37:g.56347144_56347144dupA	ENSP00000328405:p.Thr690fs		Somatic				DGKA_ENST00000394147.1_Frame_Shift_Ins_p.K690fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.K690fs|DGKA_ENST00000549079.2_3'UTR	p.K690fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			23	2523_2524	+			690					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2069_2070insA	CCDS8896.1																																																																																				0.465	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			7	2479						7	2479	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2167-2172)ccccccfs		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)																																			SO:0001589	frameshift_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347513_56347514insC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs		Somatic				DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	p.PP723fs	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			24	2623_2624	+			723					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	c.2169_2170insC	CCDS8896.1																																																																																				0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			15	359						15	359	---	---	---	---
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)cggfs	p.R579fs	IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.R579fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.R477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.R534fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1735-1737)gggfs		IKAROS family zinc finger 4 (Eos)																																				SO:0001589	frameshift_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429092_56429093insG	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1741dupG	12.37:g.56429098_56429098dupG	ENSP00000262032:p.Arg579fs		Somatic				IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs	p.G579fs			WXS	Illumina GAIIx	Phase_I	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2102_2103	+			579					Q96JP3	Frame_Shift_Ins	INS	ENST00000262032.5	37	c.1735_1736insG	CCDS44917.1																																																																																				0.554	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		19	1322						19	1322	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-2001)ttggggfs	p.LG666fs	ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.LG676fs|ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.LG676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.55																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1996-1998)tggfs		extended synaptotagmin-like protein 1																																				SO:0001589	frameshift_variant	23344					integral to membrane		g.chr12:56531341_56531342insG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2003dupG	12.37:g.56531347_56531347dupG	ENSP00000377612:p.Leu666fs		Somatic				ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs	p.W666fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			18	2261_2262	+			666			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Ins	INS	ENST00000394048.5	37	c.1997_1998insG	CCDS8904.1																																																																																				0.550	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		9	861						9	861	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs			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_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR	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		12	377						12	377	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4462-4464)gggfs	p.G1488fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1488					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4459-4464)taggggfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572241_57572242insG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4468dupG	12.37:g.57572248_57572248dupG	ENSP00000243077:p.Gly1488fs		Somatic					p.*G1487fs	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4927_4928	+			1487					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	c.4461_4462insG	CCDS8932.1																																																																																				0.589	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		21	392						21	392	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs	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		56	1096						56	1096	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs		Somatic				BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	p.PG444fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		9	373						9	373	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_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_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_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		17	520						17	520	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513129	78513130	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:78513129_78513130insC	ENST00000397909.2	+	15	3326_3327	c.3153_3154insC	c.(3154-3156)cccfs	p.P1052fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P1052fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P1052fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P1052fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1052	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGGGAAAAAGCCCCCCTCAGG	0.485										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.(3151-3156)aaccccfs		neuron navigator 3																																				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513129_78513130insC	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.3159dupC	12.37:g.78513135_78513135dupC	ENSP00000381007:p.Pro1052fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000536525.2_Frame_Shift_Ins_p.NP1051fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.NP1051fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.NP1051fs	p.NP1051fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			15	3326_3327	+			1051			Ser-rich.		Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.3153_3154insC																																																																																					0.485	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	247						7	247	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)catfs	p.H179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.H148fs	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(535-537)ttgfs		transmembrane and coiled-coil domain family 3																																				SO:0001589	frameshift_variant	57458					integral to membrane		g.chr12:94975857_94975858insG	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.536dupC	12.37:g.94975863_94975863dupG	ENSP00000261226:p.His179fs		Somatic				TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	p.L179fs	NM_020698.2	NP_065749.2	WXS	Illumina GAIIx	Phase_I	Q9ULS5	TMCC3_HUMAN			2	666_667	-			179					Q8IWB2	Frame_Shift_Ins	INS	ENST00000261226.4	37	c.535_536insC	CCDS31877.1																																																																																				0.495	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		8	768						8	768	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		19	386						19	386	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:102057273_102057274insC	ENST00000550270.1	+	20	2216_2217	c.2216_2217insC	c.(2215-2220)cgccccfs	p.RP739fs	MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.RP640fs|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.RP727fs|MYBPC1_ENST00000549145.1_Frame_Shift_Ins_p.RP752fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.RP764fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.RP713fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.RP764fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.RP720fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.RP725fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.RP739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.RP726fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGACC	0.436																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2254-2256)cccfs		myosin binding protein C, slow type																																				SO:0001589	frameshift_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102057273_102057274insC		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2222dupC	12.37:g.102057279_102057279dupC	ENSP00000449702:p.Arg739fs		Somatic				MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs	p.P752fs			WXS	Illumina GAIIx	Phase_I	Q00872	MYPC1_HUMAN			21	2355_2356	+			739	Y -> H (in Ref. 3; CAD38925).		Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Frame_Shift_Ins	INS	ENST00000550270.1	37	c.2255_2256insC	CCDS9085.1																																																																																				0.436	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			8	501						8	501	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104131518	104131519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:104131518_104131519insG	ENST00000388887.2	+	53	5861_5862	c.5657_5658insG	c.(5656-5661)ctggggfs	p.LG1886fs		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATCCCACCCTGGGGGGCCGCT	0.51																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5656-5658)cggfs		stabilin 2																																				SO:0001589	frameshift_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104131518_104131519insG	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5663dupG	12.37:g.104131524_104131524dupG	ENSP00000373539:p.Leu1886fs		Somatic					p.R1886fs	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			53	5861_5862	+			1886						Frame_Shift_Ins	INS	ENST00000388887.2	37	c.5657_5658insG	CCDS31888.1																																																																																				0.510	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	820						9	820	---	---	---	---
SH2B3	10019	broad.mit.edu	37	12	111885938	111885939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:111885938_111885939insC	ENST00000341259.2	+	8	1917_1918	c.1560_1561insC	c.(1561-1563)cccfs	p.P521fs	SH2B3_ENST00000538307.1_Frame_Shift_Ins_p.P319fs	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	521					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GGCGATCCTCACCCCCCGAGCA	0.639																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1558-1563)tcccccfs		SH2B adaptor protein 3																																				SO:0001589	frameshift_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885938_111885939insC	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1566dupC	12.37:g.111885944_111885944dupC	ENSP00000345492:p.Pro521fs		Somatic				SH2B3_ENST00000538307.1_Frame_Shift_Ins_p.SP318fs	p.SP520fs	NM_005475.2	NP_005466.1	WXS	Illumina GAIIx	Phase_I	Q9UQQ2	SH2B3_HUMAN			8	1917_1918	+			520					B9EGG5|O95184	Frame_Shift_Ins	INS	ENST00000341259.2	37	c.1560_1561insC	CCDS9153.1																																																																																				0.639	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		9	344						9	344	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:112600859_112600860insG	ENST00000430131.2	-	74	12985_12986	c.11840_11841insC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.P4223fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P4197fs|HECTD4_ENST00000549141.1_5'Flank			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTGTGCCATCTGGGGGGGCGAT	0.629																																						ENST00000550722.1																			0											c.(12667-12669)cgafs		HECT domain containing E3 ubiquitin protein ligase 4																																				SO:0001589	frameshift_variant	283450							g.chr12:112600859_112600860insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11841dupC	12.37:g.112600866_112600866dupG	ENSP00000404379:p.Pro3947fs		Somatic				HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	p.R4223fs	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					75	13063_13064	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.12668_12669insC																																																																																					0.629	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		26	504						26	504	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G	rs528866197	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:112690348_112690349insG	ENST00000430131.2	-	22	3310_3311	c.2165_2166insC	c.(2164-2166)cctfs	p.P722fs	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P972fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	722					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AATTTAAGGAAGGGGGGGAAAT	0.396													?|GGGGGGG|GGGGGGGG|unsure	10	0.00199681	0.0076	0.0	5008	,	,		19795	0.0		0.0	False		,,,				2504	0.0					ENST00000377560.5																			0											c.(2914-2916)ctcfs		HECT domain containing E3 ubiquitin protein ligase 4				25,4239		0,25,2107						3.9	0.9			67	4,8250		0,4,4123	no	frameshift	C12orf51	NM_001109662.2		0,29,6230	A1A1,A1R,RR		0.0485,0.5863,0.2317				29,12489				SO:0001589	frameshift_variant	283450							g.chr12:112690348_112690349insG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2166dupC	12.37:g.112690355_112690355dupG	ENSP00000404379:p.Pro722fs		Somatic				HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs	p.L972fs			WXS	Illumina GAIIx	Phase_I					22	3310_3311	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.2915_2916insC																																																																																					0.396	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	208						7	208	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site			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_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000546737.1_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	11	1193						11	1193	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		30	596						30	596	---	---	---	---
GATC	283459	broad.mit.edu	37	12	120894973	120894974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:120894973_120894974insC	ENST00000551806.1	+	4	443_444	c.443_444insC	c.(442-447)ggccccfs	p.GP148fs	GATC_ENST00000551765.1_Frame_Shift_Ins_p.A117fs																							GTACTTTGTGGCCCCCCCAGGT	0.475											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000551765.1																			0				breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(349-351)cccfs		glutamyl-tRNA(Gln) amidotransferase, subunit C				9,4255		0,9,2123						5.6	1.0			87	10,8244		0,10,4117	no	frameshift	GATC	NM_176818.2		0,19,6240	A1A1,A1R,RR		0.1212,0.2111,0.1518				19,12499				SO:0001589	frameshift_variant	283459				regulation of translational fidelity			g.chr12:120894973_120894974insC																												ENST00000551806.1:c.450dupC	12.37:g.120894980_120894980dupC	ENSP00000450281:p.Gly148fs		Somatic	OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1507	AL021546.6_ENST00000551806.1_Frame_Shift_Ins_p.A148fs	p.P117fs	NM_176818.2	NP_789788.1	WXS	Illumina GAIIx	Phase_I	O43716	GATCL_HUMAN			3	392_393	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		117						Frame_Shift_Ins	INS	ENST00000551806.1	37	c.349_350insC																																																																																					0.475	AL021546.6-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000403635.1			9	155						9	155	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121432117	121432118	+	Frame_Shift_Ins	INS	-	-	C	rs56348580	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:121432117_121432118insC	ENST00000257555.6	+	4	1090_1091	c.864_865insC	c.(865-867)cccfs	p.P289fs	HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.P289fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.P172fs|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	289					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGTACAGCGGGCCCCCCCCAGG	0.663									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CI064741|CM067044|CM082856	HNF1A	I|M	rs56348580	c.(862-867)ggccccfs		HNF1 homeobox A																																				SO:0001589	frameshift_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121432117_121432118insC	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.872dupC	12.37:g.121432125_121432125dupC	ENSP00000257555:p.Pro289fs		Somatic				HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.GP171fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.GP288fs	p.GP288fs			WXS	Illumina GAIIx	Phase_I	P20823	HNF1A_HUMAN			4	1090_1091	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		288					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Ins	INS	ENST00000257555.6	37	c.864_865insC	CCDS9209.1																																																																																				0.663	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		8	47						8	47	---	---	---	---
SLC15A4	121260	broad.mit.edu	37	12	129285429	129285430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:129285429_129285430insA	ENST00000266771.5	-	6	1422_1423	c.1383_1384insT	c.(1381-1386)attgggfs	p.G462fs	SLC15A4_ENST00000544112.1_Frame_Shift_Ins_p.G125fs|SLC15A4_ENST00000545031.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	462					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCGCTGATCCCAATCAGCAAGT	0.54																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(1381-1386)atggatfs		solute carrier family 15 (oligopeptide transporter), member 4																																				SO:0001589	frameshift_variant	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129285429_129285430insA	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1384dupT	12.37:g.129285431_129285431dupA	ENSP00000266771:p.Gly462fs		Somatic				SLC15A4_ENST00000544112.1_Frame_Shift_Ins_p.MD124fs|SLC15A4_ENST00000545031.1_5'UTR	p.MD461fs	NM_145648.3	NP_663623.1	WXS	Illumina GAIIx	Phase_I	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	6	1422_1423	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		461					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Frame_Shift_Ins	INS	ENST00000266771.5	37	c.1383_1384insT	CCDS9264.1																																																																																				0.540	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		31	170						31	170	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		9	268						9	268	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		7	253						7	253	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767068	41767069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:41767068_41767069insC	ENST00000379483.3	-	1	1633_1634	c.1325_1326insG	c.(1324-1326)ggafs	p.G442fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	442								p.G442G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TAGGGTCTCGTCCCCCCAAAAT	0.48																																						ENST00000379483.3																			1	Substitution - coding silent(1)	p.G442G(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1324-1326)gcgfs		kelch repeat and BTB (POZ) domain containing 7																																				SO:0001589	frameshift_variant	84078						protein binding	g.chr13:41767068_41767069insC	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1326dupG	13.37:g.41767074_41767074dupC	ENSP00000368797:p.Gly442fs		Somatic					p.A442fs	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1633_1634	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	442					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Frame_Shift_Ins	INS	ENST00000379483.3	37	c.1325_1326insG	CCDS9377.1																																																																																				0.480	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		7	543						7	543	---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:97928603_97928604insC	ENST00000376673.3	+	2	895_896	c.114_115insC	c.(115-117)cccfs	p.P39fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.P39fs|MBNL2_ENST00000345429.6_Frame_Shift_Ins_p.P39fs			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	39					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411																																						ENST00000345429.6																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17						c.(112-117)caccccfs		muscleblind-like splicing regulator 2																																				SO:0001589	frameshift_variant	10150				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr13:97928603_97928604insC	AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.120dupC	13.37:g.97928609_97928609dupC	ENSP00000365861:p.Pro39fs		Somatic				MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs	p.HP38fs	NM_144778.3	NP_659002.1	WXS	Illumina GAIIx	Phase_I	Q5VZF2	MBNL2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.218)		2	895_896	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		38					Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Frame_Shift_Ins	INS	ENST00000376673.3	37	c.114_115insC																																																																																					0.411	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778		8	366						8	366	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389293	20389294	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:20389293_20389294insT	ENST00000315915.4	+	1	553_554	c.528_529insT	c.(529-531)tttfs	p.F177fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	177						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)		TAGTAGACAGCTTTTTTTGTGA	0.421																																						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.(526-531)agttttfs		olfactory receptor, family 4, subfamily K, member 5																																				SO:0001589	frameshift_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389293_20389294insT	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.535dupT	14.37:g.20389300_20389300dupT	ENSP00000319511:p.Phe177fs		Somatic					p.SF176fs	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	553_554	+	all_cancers(95;0.00108)		176					Q6IFA7	Frame_Shift_Ins	INS	ENST00000315915.4	37	c.528_529insT	CCDS32024.1																																																																																				0.421	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		11	1446						11	1446	---	---	---	---
RNASE3	6037	broad.mit.edu	37	14	21359982	21359983	+	Frame_Shift_Ins	INS	-	-	C	rs142084658	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:21359982_21359983insC	ENST00000304639.3	+	2	195_196	c.137_138insC	c.(136-141)aaccccfs	p.NP46fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	46	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ATCAGTCTGAACCCCCCTCGAT	0.48																																						ENST00000304639.3																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9						c.(136-138)accfs		ribonuclease, RNase A family, 3	Pranlukast(DB01411)																																			SO:0001589	frameshift_variant	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21359982_21359983insC	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.143dupC	14.37:g.21359988_21359988dupC	ENSP00000302324:p.Asn46fs		Somatic					p.T46fs	NM_002935.2	NP_002926.2	WXS	Illumina GAIIx	Phase_I	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	195_196	+	all_cancers(95;0.00453)		46					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Frame_Shift_Ins	INS	ENST00000304639.3	37	c.137_138insC	CCDS9560.1																																																																																				0.480	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935		7	467						7	467	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2203-2205)gggfs	p.G735fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.G735fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	735						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2200-2205)gaggggfs		Rho guanine nucleotide exchange factor (GEF) 40																																				SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546603_21546604insG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2209dupG	14.37:g.21546610_21546610dupG	ENSP00000298694:p.Gly735fs		Somatic				ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs	p.EG734fs			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			10	2329_2330	+			734					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	ENST00000298694.4	37	c.2202_2203insG	CCDS32041.1																																																																																				0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			8	224						8	224	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)ccafs	p.P529fs	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.P392fs|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_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		10	156						10	156	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)ccafs	p.P25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(73-75)caafs		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001589	frameshift_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102924_22102925insG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.75dupC	14.37:g.22102930_22102930dupG	ENSP00000445383:p.Pro25fs		Somatic					p.Q25fs	NM_001005466.1	NP_001005466.1	WXS	Illumina GAIIx	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	171_172	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25					B2RPD0	Frame_Shift_Ins	INS	ENST00000542433.1	37	c.74_75insC	CCDS32047.1																																																																																				0.480	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			8	194						8	194	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)gatfs		potassium voltage-gated channel, subfamily H (eag-related), member 5			,	5,4259		0,5,2127					,	4.2	1.0		dbSNP_126	119	5,8249		0,5,4122	no	utr-3,frameshift	KCNH5	NM_172375.1,NM_139318.3	,	0,10,6249	A1A1,A1R,RR		0.0606,0.1173,0.0799	,	,		10,12508				SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174302_63174303insG	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2891dupC	14.37:g.63174309_63174309dupG	ENSP00000321427:p.Gln964fs		Somatic				KCNH5_ENST00000420622.2_3'UTR	p.D964fs	NM_139318.3	NP_647479.2	WXS	Illumina GAIIx	Phase_I	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158_3159	-			964					C9JP98	Frame_Shift_Ins	INS	ENST00000322893.7	37	c.2890_2891insC	CCDS9756.1																																																																																				0.391	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		13	179						13	179	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G	rs533419765|rs201579420		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644																																						ENST00000256362.4																			1	Insertion - Frameshift(1)	p.V329fs*25(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(976-978)gggfs		vertebrae development associated																																				SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824462_74824463insG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.983dupG	14.37:g.74824469_74824469dupG	ENSP00000256362:p.Arg326fs		Somatic					p.G326fs	NM_018228.2	NP_060698.2	WXS	Illumina GAIIx	Phase_I	Q9H8Y1	VRTN_HUMAN			2	1217_1218	+			326					Q9NVC7	Frame_Shift_Ins	INS	ENST00000256362.4	37	c.976_977insG	CCDS9830.1																																																																																				0.644	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		12	178						12	178	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93720047	93720048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:93720047_93720048insT	ENST00000334746.5	-	7	2004_2005	c.1697_1698insA	c.(1696-1698)aatfs	p.N566fs	BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.N140fs|BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.N215fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	566					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGATGCCAGCATTTTTTTGCCG	0.386																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1696-1698)agcfs		BTB (POZ) domain containing 7																																				SO:0001589	frameshift_variant	55727							g.chr14:93720047_93720048insT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1698dupA	14.37:g.93720054_93720054dupT	ENSP00000335615:p.Asn566fs		Somatic				BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.S215fs|BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.S140fs	p.S566fs	NM_001002860.2	NP_001002860.2	WXS	Illumina GAIIx	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	7	2004_2005	-		all_cancers(154;0.08)	566					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	c.1697_1698insA	CCDS32146.1																																																																																				0.386	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	330						7	330	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.5													tgggggg|GGGGGGG|GGGGGGGG|complex_insertion	8	0.00159744	0.0045	0.0	5008	,	,		35803	0.0		0.0	False		,,,				2504	0.002					ENST00000332663.2																			3	Substitution - Missense(3)	p.R150M(2)|p.R150W(1)	lung(3)	NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(448-450)gggfs		olfactory receptor, family 4, subfamily M, member 2																																				SO:0001589	frameshift_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369023_22369024insG	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.455dupG	15.37:g.22369030_22369030dupG	ENSP00000329467:p.Arg150fs		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.G150fs	NM_001004719.2	NP_001004719.2	WXS	Illumina GAIIx	Phase_I	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	546_547	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	150					B9EH16|Q6IEY2	Frame_Shift_Ins	INS	ENST00000332663.2	37	c.448_449insG	CCDS32172.1																																																																																				0.500	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			33	1050						33	1050	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6708)gaggggfs	p.EG2235fs	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Frame_Shift_Ins_p.EG2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6703-6705)gggfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015000_34015001insG		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6710dupG	15.37:g.34015006_34015006dupG	ENSP00000373884:p.Glu2235fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	p.G2235fs	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6774_6775	+		all_lung(180;7.18e-09)	2235			4 X approximate repeats.		O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.6704_6705insG	CCDS45210.1																																																																																				0.584	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	586						9	586	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		9	233						9	233	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs200121839|rs11542063	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Frame_Shift_Ins_p.P102fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	123					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCTGTGCCACGCCCCCCGATGA	0.53																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(364-369)acccccfs		sorbitol dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353365_45353366insC		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.372dupC	15.37:g.45353371_45353371dupC	ENSP00000267814:p.Pro123fs		Somatic				SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	p.TP122fs	NM_003104.5	NP_003095.2	WXS	Illumina GAIIx	Phase_I	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	546_547	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	122					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Frame_Shift_Ins	INS	ENST00000267814.9	37	c.366_367insC	CCDS10116.1																																																																																				0.530	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			12	338						12	338	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		7	127						7	127	---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66191095	66191101	+	Frame_Shift_Del	DEL	GACAAGG	GACAAGG	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:66191095_66191101delGACAAGG	ENST00000409699.2	-	22	3111_3117	c.2939_2945delCCTTGTC	c.(2938-2946)tccttgtcgfs	p.SLS980fs	MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Frame_Shift_Del_p.SLS905fs|MEGF11_ENST00000422354.1_Frame_Shift_Del_p.SLS980fs|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Frame_Shift_Del_p.SLS905fs			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	980					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ATTAGATGTCGACAAGGATGGCACATC	0.43																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2938-2946)tgfs		multiple EGF-like-domains 11																																				SO:0001589	frameshift_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66191095_66191101delGACAAGG	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2939_2945delCCTTGTC	15.37:g.66191095_66191101delGACAAGG	ENSP00000386908:p.Ser980fs		Somatic				MEGF11_ENST00000288745.3_Frame_Shift_Del_p.SLS905fs|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000422354.1_Frame_Shift_Del_p.SLS980fs|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Frame_Shift_Del_p.SLS905fs	p.SLS980fs			WXS	Illumina GAIIx	Phase_I	A6BM72	MEG11_HUMAN			22	3111_3117	-			980					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Frame_Shift_Del	DEL	ENST00000409699.2	37	c.2939_2945delCCTTGTC	CCDS10213.2																																																																																				0.430	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		10	186						10	186	---	---	---	---
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	lincRNA	INS	-	-	G	rs528488597	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.49																																						ENST00000560533.1																			0																																																			729911							g.chr15:79529452_79529453insG																													15.37:g.79529458_79529458dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	349	-									RNA	INS	ENST00000560533.1	37																																																																																						0.490	RP11-17L5.4-007	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417804.1			8	481						8	481	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-	rs535146949|rs548644616|rs373234755	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314									DNM1 pseudogene 51																		TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557														177	0.0353435	0.0015	0.0403	5008	,	,		20334	0.0198		0.0905	False		,,,				2504	0.0368					ENST00000558801.1																			0																																																			114817							g.chr15:84958415_84958426delCGAGGACATTGG			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84958415_84958426delCGAGGACATTGG			Somatic								WXS	Illumina GAIIx	Phase_I					0	6303_6314	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.557	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			3	3						3	3	---	---	---	---
ABHD2	11057	broad.mit.edu	37	15	89694927	89694928	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:89694927_89694928insG	ENST00000352732.5	+	4	734_735	c.214_215insG	c.(214-216)tggfs	p.W72fs	ABHD2_ENST00000565973.1_Frame_Shift_Ins_p.W72fs|ABHD2_ENST00000355100.3_Frame_Shift_Ins_p.W72fs	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	72					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACCGTTGATCTGGGGGAAAAGT	0.446																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(214-216)gggfs		abhydrolase domain containing 2																																				SO:0001589	frameshift_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89694927_89694928insG	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.219dupG	15.37:g.89694932_89694932dupG	ENSP00000268129:p.Trp72fs		Somatic				ABHD2_ENST00000355100.3_Frame_Shift_Ins_p.G72fs|ABHD2_ENST00000565973.1_Frame_Shift_Ins_p.G72fs	p.G72fs	NM_152924.4	NP_690888.1	WXS	Illumina GAIIx	Phase_I	P08910	ABHD2_HUMAN			4	734_735	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		72					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Frame_Shift_Ins	INS	ENST00000352732.5	37	c.214_215insG	CCDS10348.1																																																																																				0.446	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			8	408						8	408	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564																																						ENST00000568710.1																			0																																																			729486							g.chr16:81765_81766insC																													16.37:g.81771_81771dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	434	-									RNA	INS	ENST00000568710.1	37																																																																																						0.564	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			10	552						10	552	---	---	---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073265	3073266	+	Frame_Shift_Ins	INS	-	-	G	rs548084088|rs147841549	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:3073265_3073266insG	ENST00000248089.3	-	3	553_554	c.249_250insC	c.(247-252)cccatgfs	p.M84fs	HCFC1R1_ENST00000574151.1_Frame_Shift_Ins_p.M65fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Ins_p.M84fs|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000396916.1_Frame_Shift_Ins_p.M84fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Ins_p.M44fs|HCFC1R1_ENST00000354679.3_Frame_Shift_Ins_p.M82fs|THOC6_ENST00000326266.8_5'Flank|THOC6_ENST00000574549.1_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	84						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M65fs*1(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTGC	0.619																																						ENST00000248089.3																			1	Deletion - Frameshift(1)	p.M65fs*1(1)	large_intestine(1)	breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(247-252)cctgacfs		host cell factor C1 regulator 1 (XPO1 dependent)																																				SO:0001589	frameshift_variant	54985					cytoplasm|nucleus		g.chr16:3073265_3073266insG	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.250dupC	16.37:g.3073272_3073272dupG	ENSP00000248089:p.Met84fs		Somatic				HCFC1R1_ENST00000354679.3_Frame_Shift_Ins_p.D82fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Ins_p.D44fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Ins_p.D84fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Ins_p.D65fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Ins_p.D84fs	p.D84fs	NM_017885.2	NP_060355.1	WXS	Illumina GAIIx	Phase_I	Q9NWW0	HPIP_HUMAN			3	553_554	-			84					D3DUA7|Q68EN7	Frame_Shift_Ins	INS	ENST00000248089.3	37	c.249_250insC	CCDS10490.1																																																																																				0.619	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		8	60						8	60	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)accfs	p.T46fs	MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.T46fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.T46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCCT	0.465																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(136-138)cccfs		mahogunin ring finger 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4700413_4700414insC	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.142dupC	16.37:g.4700419_4700419dupC	ENSP00000382487:p.Thr46fs		Somatic				MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs	p.P46fs	NM_001142290.2	NP_001135762.1	WXS	Illumina GAIIx	Phase_I	O60291	MGRN1_HUMAN			2	229_230	+			46					A4URL3|A4URL4|Q86W76	Frame_Shift_Ins	INS	ENST00000399577.5	37	c.136_137insC	CCDS45402.1																																																																																				0.465	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			7	1316						7	1316	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)cgcfs	p.R244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(730-732)catfs		G protein-coupled receptor 139																																				SO:0001589	frameshift_variant	124274					integral to membrane|plasma membrane		g.chr16:20043388_20043389insG	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.731dupC	16.37:g.20043394_20043394dupG	ENSP00000458791:p.Arg244fs		Somatic					p.H244fs	NM_001002911.2	NP_001002911.1	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			2	1030_1031	-			244					A8K5R9|Q86SP2|Q8TDU8	Frame_Shift_Ins	INS	ENST00000570682.1	37	c.730_731insC	CCDS32398.1																																																																																				0.545	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		9	343						9	343	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-219)cgccccfs	p.RP72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.RP72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(214-216)cccfs		acyl-CoA synthetase medium-chain family member 5																																				SO:0001589	frameshift_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429391_20429392insC		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.221dupC	16.37:g.20429397_20429397dupC	ENSP00000327916:p.Arg72fs		Somatic				ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	p.P72fs	NM_017888.2	NP_060358.2	WXS	Illumina GAIIx	Phase_I	Q6NUN0	ACSM5_HUMAN			3	362_363	+			72					Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	c.215_216insC	CCDS10585.1																																																																																				0.455	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		7	226						7	226	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C	rs374997353		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.P175fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.P403fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.P324fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.P403fs	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_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR	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	386						8	386	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs		Somatic				ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR	p.H405fs	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		10	396						10	396	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)cccaaafs	p.K3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|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)		CGGAGCCCTTTGGGGGGCTCAT	0.51																																						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.(10906-10911)ccaaggfs		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.chr16:20966297_20966298insG	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.10909dupC	16.37:g.20966303_20966303dupG	ENSP00000261383:p.Lys3637fs		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.R3637fs	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10907_10908	-			3637			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	ENST00000261383.3	37	c.10908_10909insC	CCDS10594.1																																																																																				0.510	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	323						7	323	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(943-945)aaafs	p.K315fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	315					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485																																						ENST00000261374.3																			0				breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(940-945)ttaaaafs		heparan sulfate (glucosamine) 3-O-sulfotransferase 2																																				SO:0001589	frameshift_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926721_22926722insA	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.949dupA	16.37:g.22926728_22926728dupA	ENSP00000261374:p.Lys315fs		Somatic					p.LK314fs	NM_006043.1	NP_006034.1	WXS	Illumina GAIIx	Phase_I	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	1376_1377	+			314					Q52LZ1	Frame_Shift_Ins	INS	ENST00000261374.3	37	c.942_943insA	CCDS10606.1																																																																																				0.485	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		8	807						8	807	---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786|rs201055598		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:23718095_23718096insG	ENST00000457008.2	-	6	504_505	c.466_467insC	c.(466-468)cgcfs	p.R156fs	ERN2_ENST00000256797.4_Frame_Shift_Ins_p.R204fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(610-612)cctfs		endoplasmic reticulum to nucleus signaling 2				47,4201		1,45,2078						-0.1	0.8			55	97,8145		0,97,4024	no	frameshift	ERN2	NM_033266.3		1,142,6102	A1A1,A1R,RR		1.1769,1.1064,1.1529				144,12346				SO:0001589	frameshift_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718095_23718096insG	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.467dupC	16.37:g.23718101_23718101dupG	ENSP00000413812:p.Arg156fs		Somatic				ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	p.P204fs	NM_033266.3	NP_150296.3	WXS	Illumina GAIIx	Phase_I	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	778_779	-			156						Frame_Shift_Ins	INS	ENST00000457008.2	37	c.610_611insC																																																																																					0.604	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			8	519						8	519	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			7	114						7	114	---	---	---	---
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C	rs543306573	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-117)tgccccfs	p.CP38fs		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													CCCcCC|CCCCCC|CCCCCCC|insertion	3	0.000599042	0.0023	0.0	5008	,	,		18016	0.0		0.0	False		,,,				2504	0.0					ENST00000219162.3																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(112-114)tccfs		metallothionein 4																																				SO:0001589	frameshift_variant	84560					cytoplasm	copper ion binding|zinc ion binding	g.chr16:56602768_56602769insC	BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.119dupC	16.37:g.56602774_56602774dupC	ENSP00000219162:p.Cys38fs		Somatic					p.S38fs	NM_032935.2	NP_116324.1	WXS	Illumina GAIIx	Phase_I	P47944	MT4_HUMAN			3	193_194	+			38					Q14DA1	Frame_Shift_Ins	INS	ENST00000219162.3	37	c.113_114insC	CCDS42165.1																																																																																				0.599	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434118.1	NM_032935		19	986						19	986	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57485112	57485113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:57485112_57485113insC	ENST00000262507.6	+	2	303_304	c.234_235insC	c.(235-237)cccfs	p.P79fs	COQ9_ENST00000567933.1_Frame_Shift_Ins_p.P79fs|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Frame_Shift_Ins_p.P79fs	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	79					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTCTCATTCACCCCCCAGGTA	0.495																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(232-237)tcccccfs		coenzyme Q9																																				SO:0001589	frameshift_variant	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57485112_57485113insC	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.240dupC	16.37:g.57485118_57485118dupC	ENSP00000262507:p.Pro79fs		Somatic				COQ9_ENST00000567933.1_Frame_Shift_Ins_p.SP78fs|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Frame_Shift_Ins_p.SP78fs	p.SP78fs	NM_020312.3	NP_064708.1	WXS	Illumina GAIIx	Phase_I	O75208	COQ9_HUMAN			2	303_304	+			78					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Frame_Shift_Ins	INS	ENST00000262507.6	37	c.234_235insC	CCDS32459.1																																																																																				0.495	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		10	320						10	320	---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57600565	57600566	+	Frame_Shift_Ins	INS	-	-	G	rs201845314		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:57600565_57600566insG	ENST00000340339.4	+	7	1124_1125	c.601_602insG	c.(601-603)tggfs	p.W201fs	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Frame_Shift_Ins_p.W201fs	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	201	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTGG	0.604																																						ENST00000340339.4																			1	Insertion - Frameshift(1)	p.W204fs*4(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(601-603)gggfs		G protein-coupled receptor 114																																				SO:0001589	frameshift_variant	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57600565_57600566insG	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.608dupG	16.37:g.57600572_57600572dupG	ENSP00000342981:p.Trp201fs		Somatic				GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Frame_Shift_Ins_p.G201fs	p.G201fs	NM_153837.1	NP_722579.1	WXS	Illumina GAIIx	Phase_I	Q8IZF4	GP114_HUMAN			7	1124_1125	+			201			GPS.		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Frame_Shift_Ins	INS	ENST00000340339.4	37	c.601_602insG	CCDS10785.1																																																																																				0.604	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		8	71						8	71	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-945)gcggggfs	p.AG314fs	MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	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)		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579																																						ENST00000268485.3																			1	Substitution - Missense(1)	p.A314V(1)	endometrium(1)	NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(940-942)gggfs		MARVEL domain containing 3																																				SO:0001589	frameshift_variant	91862					integral to membrane		g.chr16:71668441_71668442insG	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.948dupG	16.37:g.71668448_71668448dupG	ENSP00000268485:p.Ala314fs		Somatic				MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron	p.G314fs	NM_052858.3	NP_443090.4	WXS	Illumina GAIIx	Phase_I	Q96A59	MALD3_HUMAN			3	985_986	+		Ovarian(137;0.125)	314			MARVEL.		A8K820|H3BQM5|Q96MJ4	Frame_Shift_Ins	INS	ENST00000268485.3	37	c.941_942insG	CCDS10904.1																																																																																				0.579	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		7	143						7	143	---	---	---	---
OR1A2	26189	broad.mit.edu	37	17	3100900	3100901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:3100900_3100901insT	ENST00000381951.1	+	1	88_89	c.88_89insT	c.(88-90)attfs	p.I30fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	30					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTTCTTTGTGATTTTTTTGTGC	0.401																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(88-90)tttfs		olfactory receptor, family 1, subfamily A, member 2																																				SO:0001589	frameshift_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3100900_3100901insT	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.95dupT	17.37:g.3100907_3100907dupT	ENSP00000371377:p.Ile30fs		Somatic					p.F30fs	NM_012352.1	NP_036484.1	WXS	Illumina GAIIx	Phase_I	Q9Y585	OR1A2_HUMAN			1	88_89	+			30					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Frame_Shift_Ins	INS	ENST00000381951.1	37	c.88_89insT	CCDS11021.1																																																																																				0.401	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		8	689						8	689	---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:4884523_4884524insC	ENST00000348066.3	-	8	819_820	c.696_697insG	c.(694-699)gggcttfs	p.L233fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.L256fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.L233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.L235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.L238fs|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.L232fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.55											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(691-696)ggttggfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884523_4884524insC	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.697dupG	17.37:g.4884529_4884529dupC	ENSP00000321813:p.Leu233fs		Somatic	OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs	p.W232fs	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			7	1104_1105	-			233					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.693_694insG	CCDS11063.1																																																																																				0.550	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		9	710						9	710	---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4907860	4907861	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:4907860_4907861insG	ENST00000320785.5	+	12	1297		c.e12-1			NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C						ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTCCATTCACAGGGGGGAACTC	0.579																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.e12-1		kinesin family member 1C																																				SO:0001630	splice_region_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4907860_4907861insG	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.941-1->G	17.37:g.4907866_4907866dupG			Somatic						NM_006612.5	NP_006603.2	WXS	Illumina GAIIx	Phase_I	O43896	KIF1C_HUMAN			12	1297	+								D3DTL6|O75186|Q5U618	Splice_Site	INS	ENST00000320785.5	37		CCDS11065.1																																																																																				0.579	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1		Intron	7	263						7	263	---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)accfs	p.T301fs	WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.T185fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.T301fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.T301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(901-903)cccfs		WSC domain containing 1																																				SO:0001589	frameshift_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6012978_6012979insC		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.907dupC	17.37:g.6012984_6012984dupC	ENSP00000460825:p.Thr301fs		Somatic				WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs	p.P301fs			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			6	1291_1292	+			301			WSC 2.		A8K0N8|D3DTM3|O60276|Q96G45	Frame_Shift_Ins	INS	ENST00000574946.1	37	c.901_902insC	CCDS32538.1																																																																																				0.564	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		11	1407						11	1407	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.		A -> T.		aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(892-894)cccfs		arachidonate 12-lipoxygenase																																				SO:0001589	frameshift_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6903739_6903740insC	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.898dupC	17.37:g.6903745_6903745dupC	ENSP00000251535:p.Ala298fs		Somatic				AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	p.P298fs	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			7	945_946	+			298		A -> T.	Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Frame_Shift_Ins	INS	ENST00000251535.6	37	c.892_893insC	CCDS11084.1																																																																																				0.554	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			7	1103						7	1103	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		12	227						12	227	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G	rs376316249		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)ccafs	p.P919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.P946fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					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						ATGAATGTTCTGGGGGGGCTTC	0.48																																						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.(2755-2757)cgafs		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.chr17:27959374_27959375insG	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.2757dupC	17.37:g.27959381_27959381dupG	ENSP00000269033:p.Pro919fs		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	p.R919fs	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2907_2908	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Ins	INS	ENST00000269033.3	37	c.2756_2757insC	CCDS11253.1																																																																																				0.480	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		30	755						30	755	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)cggfs	p.R76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579																																						ENST00000325874.8																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gggfs		RAB11 family interacting protein 4 (class II)																																				SO:0001589	frameshift_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29758897_29758898insG	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.232dupG	17.37:g.29758903_29758903dupG	ENSP00000312837:p.Arg76fs		Somatic					p.G76fs	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			2	455_456	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	76			EF-hand.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Frame_Shift_Ins	INS	ENST00000325874.8	37	c.226_227insG	CCDS11267.1																																																																																				0.579	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		7	187						7	187	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:31439004_31439005insC	ENST00000359872.6	-	2	1397_1398	c.636_637insG	c.(634-639)gggacafs	p.T213fs	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Frame_Shift_Ins_p.T264fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.55																																						ENST00000225823.2																			0											c.(787-792)ggcaggfs		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439004_31439005insC	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.637dupG	17.37:g.31439011_31439011dupC	ENSP00000352934:p.Thr213fs		Somatic				RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|ASIC2_ENST00000448983.1_5'UTR	p.R264fs	NM_183377.1	NP_899233.1	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			2	1661_1662	-			213					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Ins	INS	ENST00000359872.6	37	c.789_790insG	CCDS42296.1																																																																																				0.550	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		9	264						9	264	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33318739	33318740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:33318739_33318740insC	ENST00000378526.4	+	6	1224_1225	c.1091_1092insC	c.(1090-1095)ttccccfs	p.FP364fs	LIG3_ENST00000262327.5_Frame_Shift_Ins_p.FP364fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	364					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCAAGTCTTTCCCCCCAGCTG	0.545								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1090-1092)tccfs	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)																																			SO:0001589	frameshift_variant	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33318739_33318740insC		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1097dupC	17.37:g.33318745_33318745dupC	ENSP00000367787:p.Phe364fs		Somatic				LIG3_ENST00000262327.5_Frame_Shift_Ins_p.S364fs	p.S364fs	NM_013975.3	NP_039269.2	WXS	Illumina GAIIx	Phase_I	P49916	DNLI3_HUMAN			6	1224_1225	+		Ovarian(249;0.17)	364					Q16714|Q6NVK3	Frame_Shift_Ins	INS	ENST00000378526.4	37	c.1091_1092insC	CCDS11284.2																																																																																				0.545	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		7	397						7	397	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35880695	35880695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:35880695delA	ENST00000339208.6	-	20	3863	c.3723delT	c.(3721-3723)aatfs	p.N1241fs	SYNRG_ENST00000394378.2_Frame_Shift_Del_p.N1186fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.N1163fs|SYNRG_ENST00000591288.1_Frame_Shift_Del_p.N1035fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.N1241fs|SYNRG_ENST00000502449.2_Frame_Shift_Del_p.N1118fs|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.N1162fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1241					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTCCTGAGCATTTTTAATCC	0.512																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3721-3723)aafs		synergin, gamma							79.0	81.0	80.0					17																	35880695		2203	4300	6503	SO:0001589	frameshift_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35880695delA	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3723delT	17.37:g.35880695delA	ENSP00000343610:p.Asn1241fs		Somatic				SYNRG_ENST00000591288.1_Frame_Shift_Del_p.N1035fs|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.N1162fs|SYNRG_ENST00000502449.2_Frame_Shift_Del_p.N1118fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.N1163fs|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.N1186fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.N1241fs	p.N1241fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina GAIIx	Phase_I	Q9UMZ2	SYNRG_HUMAN			20	3863	-			1241					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Frame_Shift_Del	DEL	ENST00000339208.6	37	c.3723delT	CCDS11321.1																																																																																				0.512	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		38	193						38	193	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40847732	40847732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40847732delC	ENST00000264638.4	+	19	3403	c.3186delC	c.(3184-3186)tacfs	p.Y1062fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1062					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCCCGACTACCCCCGGCCTG	0.667																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3184-3186)tafs		contactin associated protein 1							56.0	56.0	56.0					17																	40847732		2203	4300	6503	SO:0001589	frameshift_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847732delC	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3186delC	17.37:g.40847732delC	ENSP00000264638:p.Tyr1062fs		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.Y1062fs	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3403	+		Breast(137;0.000143)	1062						Frame_Shift_Del	DEL	ENST00000264638.4	37	c.3186delC	CCDS11436.1																																																																																				0.667	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		15	139						15	139	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(643-645)cccfs		CD300 molecule-like family member g																																				SO:0001589	frameshift_variant	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41931337_41931338insC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs		Somatic				CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs	p.P215fs	NM_145273.3	NP_660316.2	WXS	Illumina GAIIx	Phase_I	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	4	685_686	+		Breast(137;0.0199)	215					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	ENST00000317310.4	37	c.644_645insC	CCDS11470.1																																																																																				0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		11	129						11	129	---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48243426	48243427	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:48243426_48243427insAA	ENST00000262018.3	+	1	61_62	c.25_26insAA	c.(25-27)cctfs	p.P9fs	SGCA_ENST00000513942.1_Intron|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P9fs|SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P9fs	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	9					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTCTGGACTCCTCTCCTCGTG	0.658																																						ENST00000262018.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(25-27)tctfs		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)																																				SO:0001589	frameshift_variant	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48243426_48243427insAA	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	Exception_encountered	17.37:g.48243426_48243427insAA	ENSP00000262018:p.Pro9fs		Somatic				SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.S9fs|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.S9fs|SGCA_ENST00000513942.1_Intron	p.S9fs	NM_000023.2	NP_000014.1	WXS	Illumina GAIIx	Phase_I	Q16586	SGCA_HUMAN			1	61_62	+			9					A6NEB8|A8K3K7|Q13710|Q13712	Frame_Shift_Ins	INS	ENST00000262018.3	37	c.25_26insAA	CCDS32679.1																																																																																				0.658	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		80	375						80	375	---	---	---	---
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gagfs		carbonic anhydrase X																																				SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008356_50008357insC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs	p.E91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212_1213	-			91					B2R7J0|B4DGL6	Frame_Shift_Ins	INS	ENST00000285273.4	37	c.272_273insG	CCDS32684.1																																																																																				0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		20	1130						20	1130	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs		Somatic				MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		8	288						8	288	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:62049212_62049213insG	ENST00000435607.1	-	4	559		c.e4-2		SCN4A_ENST00000578147.1_Splice_Site|CTC-264K15.6_ENST00000577329.1_lincRNA	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGTGTACCTGGGGGGGAGAG	0.589																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.e4-2		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)																																			SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049212_62049213insG	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.483-2->C	17.37:g.62049219_62049219dupG			Somatic				SCN4A_ENST00000435607.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			4	559	-								Q15478|Q16447|Q7Z6B1	Splice_Site	INS	ENST00000435607.1	37		CCDS45761.1																																																																																				0.589	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Intron	8	114						8	114	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		18	778						18	778	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000583178.1_5'UTR	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_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|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		11	214						11	214	---	---	---	---
ACSBG2	81616	broad.mit.edu	37	19	6187325	6187326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:6187325_6187326insC	ENST00000586696.1	+	12	1848_1849	c.1572_1573insC	c.(1573-1575)cccfs	p.P525fs	RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000591403.1_Frame_Shift_Ins_p.P525fs|ACSBG2_ENST00000588485.1_Frame_Shift_Ins_p.P338fs|ACSBG2_ENST00000252669.5_Frame_Shift_Ins_p.P525fs|ACSBG2_ENST00000588304.1_Frame_Shift_Ins_p.P475fs|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	525					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAAAATGTGCCCCCCATTCC	0.48																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1420-1425)gtccccfs		acyl-CoA synthetase bubblegum family member 2																																				SO:0001589	frameshift_variant	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6187325_6187326insC		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1578dupC	19.37:g.6187331_6187331dupC	ENSP00000465589:p.Pro525fs		Somatic				ACSBG2_ENST00000586696.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000252669.5_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000588485.1_Frame_Shift_Ins_p.VP337fs	p.VP474fs			WXS	Illumina GAIIx	Phase_I	Q5FVE4	ACBG2_HUMAN			12	1868_1869	+			524					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Frame_Shift_Ins	INS	ENST00000586696.1	37	c.1422_1423insC	CCDS12159.1																																																																																				0.480	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		10	423						10	423	---	---	---	---
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)cccaagfs	p.K891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AACGAGGACTTGGGGGGGATGG	0.574																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2668-2673)ccagtcfs		complement component 3																																				SO:0001589	frameshift_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697480_6697481insG	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2671dupC	19.37:g.6697487_6697487dupG	ENSP00000245907:p.Lys891fs		Somatic					p.V891fs	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2762_2763	-			891					A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	c.2670_2671insC	CCDS32883.1																																																																																				0.574	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	233						7	233	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		18	491						18	491	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		27	372						27	372	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12542363	12542364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12542363_12542364insA	ENST00000301547.5	-	4	819_820	c.622_623insT	c.(622-624)tggfs	p.W208fs	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	208					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAACTGGGCCAAAAAAACGCT	0.406																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(622-624)gccfs		zinc finger protein 443																																				SO:0001589	frameshift_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542363_12542364insA	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.623dupT	19.37:g.12542370_12542370dupA	ENSP00000301547:p.Trp208fs		Somatic				CTD-3105H18.16_ENST00000595562.1_Intron	p.A208fs	NM_005815.4	NP_005806.2	WXS	Illumina GAIIx	Phase_I	Q9Y2A4	ZN443_HUMAN			4	819_820	-			208						Frame_Shift_Ins	INS	ENST00000301547.5	37	c.622_623insT	CCDS32918.1																																																																																				0.406	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		7	375						7	375	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15996865	15996866	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:15996865_15996866insG	ENST00000221700.6	-	9	1081		c.e9-2		CYP4F2_ENST00000011989.7_Splice_Site	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCATGGCCTGGGGGGCAGCA	0.629																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e9-2		cytochrome P450, family 4, subfamily F, polypeptide 2																																				SO:0001630	splice_region_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15996865_15996866insG	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.986-2->C	19.37:g.15996871_15996871dupG			Somatic				CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site		NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			9	1081	-									Splice_Site	INS	ENST00000221700.6	37		CCDS12336.1																																																																																				0.629	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	Intron	7	327						7	327	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gggfs	p.G139fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.G90fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-417)gctfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275654_16275655insT	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.416_417insA	19.37:g.16275654_16275655insT	ENSP00000269878:p.Gly139fs		Somatic				CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs	p.A139fs	NM_054113.2	NP_473454.1	WXS	Illumina GAIIx	Phase_I	Q96Q77	CIB3_HUMAN			5	465_466	-			139		G -> E (in dbSNP:rs6512087).			E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.416_417insA	CCDS12340.1																																																																																				0.569	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		7	311						7	311	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)gggcatfs	p.H1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584																																						ENST00000443236.1																			1	Insertion - Frameshift(1)	p.H1052fs*30(1)	ovary(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3151-3156)ggatcafs		C3 and PZP-like, alpha-2-macroglobulin domain containing 8																																				SO:0001589	frameshift_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17039883_17039884insC	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3154dupG	19.37:g.17039890_17039890dupC	ENSP00000402505:p.His1052fs		Somatic					p.S1052fs	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			24	3184_3185	-			1005					Q8NC09|Q9ULD7	Frame_Shift_Ins	INS	ENST00000443236.1	37	c.3153_3154insG	CCDS42519.1																																																																																				0.584	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		7	81						7	81	---	---	---	---
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(487-489)cccfs	p.P163fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653																																						ENST00000599612.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(484-489)gtccccfs		MPV17 mitochondrial membrane protein-like 2																																				SO:0001589	frameshift_variant	84769					integral to membrane		g.chr19:18305818_18305819insC	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.493dupC	19.37:g.18305825_18305825dupC	ENSP00000469836:p.Pro163fs		Somatic				MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	p.VP162fs	NM_032683.2	NP_116072.2	WXS	Illumina GAIIx	Phase_I	Q567V2	M17L2_HUMAN			4	586_587	+			162					Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Ins	INS	ENST00000599612.2	37	c.486_487insC	CCDS42522.1																																																																																				0.653	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		14	195						14	195	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		18	418						18	418	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210634	37210635	+	Frame_Shift_Del	DEL	GT	GT	-	rs117657033	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:37210634_37210635delGT	ENST00000536254.2	+	6	1230_1231	c.1008_1009delGT	c.(1006-1011)tcgtatfs	p.Y337fs	ZNF567_ENST00000392163.2_Frame_Shift_Del_p.Y306fs|ZNF567_ENST00000585696.1_Frame_Shift_Del_p.Y306fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.Y306fs|ZNF567_ENST00000588311.1_Frame_Shift_Del_p.Y306fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	337					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAATCGTATGAATGTCT	0.455																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(913-918)tcatfs		zinc finger protein 567																																				SO:0001589	frameshift_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210634_37210635delGT	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1008_1009delGT	19.37:g.37210634_37210635delGT	ENSP00000441838:p.Tyr337fs		Somatic				ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Frame_Shift_Del_p.SY305fs|ZNF567_ENST00000536254.2_Frame_Shift_Del_p.SY336fs|ZNF567_ENST00000392163.2_Frame_Shift_Del_p.SY305fs|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.SY305fs	p.SY305fs			WXS	Illumina GAIIx	Phase_I	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2145_2146	+	Esophageal squamous(110;0.198)		336					B3KX49|Q6N044	Frame_Shift_Del	DEL	ENST00000536254.2	37	c.915_916delGT																																																																																					0.455	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		7	96						7	96	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160944	38160945	+	Frame_Shift_Ins	INS	-	-	AC	rs201364307		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:38160944_38160945insAC	ENST00000590008.1	-	5	957_958	c.105_106insGT	c.(103-108)tgtcagfs	p.Q36fs	ZNF781_ENST00000358582.4_Frame_Shift_Ins_p.Q36fs|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CCACATATCTGACATTCATAGG	0.376																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(103-108)tgagatfs		zinc finger protein 781																																				SO:0001589	frameshift_variant	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160944_38160945insAC	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.104_105dupGT	19.37:g.38160945_38160946dupAC	ENSP00000466370:p.Gln36fs		Somatic				ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Frame_Shift_Ins_p.*D35fs	p.*D35fs	NM_152605.3	NP_689818.2	WXS	Illumina GAIIx	Phase_I	Q8N8C0	ZN781_HUMAN			4	853_854	-			35					Q2VPJ8	Frame_Shift_Ins	INS	ENST00000590008.1	37	c.105_106insGT	CCDS12507.1																																																																																				0.376	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		7	638						7	638	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccacgfs	p.T381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165). {ECO:0000269|PubMed:17344846}.		histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1138-1143)cccgccfs		homeodomain interacting protein kinase 4																																				SO:0001589	frameshift_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886757_40886758insG	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1141dupC	19.37:g.40886763_40886763dupG	ENSP00000291823:p.Thr381fs		Somatic					p.A381fs	NM_144685.3	NP_653286.2	WXS	Illumina GAIIx	Phase_I	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1424_1425	-			381		T -> M (in dbSNP:rs55760165).			A8K863|Q96M54	Frame_Shift_Ins	INS	ENST00000291823.2	37	c.1140_1141insC	CCDS12555.1																																																																																				0.658	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		9	552						9	552	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41798238	41798239	+	Frame_Shift_Ins	INS	-	-	G	rs372936991		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:41798238_41798239insG	ENST00000392006.3	+	8	1261_1262	c.1088_1089insG	c.(1087-1092)ttggggfs	p.LG363fs	HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.LG263fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.LG249fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.LG363fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.LG263fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.LG263fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.LG274fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAAGCCTTGGGGGGTCAGG	0.5																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1087-1089)tggfs		heterogeneous nuclear ribonucleoprotein U-like 1																																				SO:0001589	frameshift_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41798238_41798239insG	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1094dupG	19.37:g.41798244_41798244dupG	ENSP00000375863:p.Leu363fs		Somatic				HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.W363fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.W274fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.W249fs	p.W363fs	NM_007040.3	NP_008971.2	WXS	Illumina GAIIx	Phase_I	Q9BUJ2	HNRL1_HUMAN			8	1261_1262	+			363			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Ins	INS	ENST00000392006.3	37	c.1088_1089insG	CCDS12576.1																																																																																				0.500	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		7	515						7	515	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs		Somatic				CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs	p.P599fs	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		10	286						10	286	---	---	---	---
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:42621520_42621521insG	ENST00000526816.2	-	5	202		c.e5-2		POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000560398.1_Frame_Shift_Ins_p.Q84fs|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCCTTGATCTGGGGGGGAGAG	0.634																																						ENST00000560398.1																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(250-252)gatfs		POU class 2 homeobox 2																																				SO:0001630	splice_region_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42621520_42621521insG		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.187-2->C	19.37:g.42621527_42621527dupG			Somatic				POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site	p.D84fs			WXS	Illumina GAIIx	Phase_I	P09086	PO2F2_HUMAN			5	257_258	-		Prostate(69;0.059)	62					Q16648|Q7M4M8|Q9BRS4	Frame_Shift_Ins	INS	ENST00000526816.2	37	c.250_251insC	CCDS56095.1																																																																																				0.634	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		Intron	19	251						19	251	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		16	651						16	651	---	---	---	---
CADM4	199731	broad.mit.edu	37	19	44131379	44131380	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:44131379_44131380insC	ENST00000222374.2	-	3	350_351	c.302_303insG	c.(301-303)ggcfs	p.G101fs	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	101	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGCAGAAATAGCCCCCCTCGTC	0.604																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(301-303)gtafs		cell adhesion molecule 4																																				SO:0001589	frameshift_variant	199731				cell adhesion	integral to membrane		g.chr19:44131379_44131380insC	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.303dupG	19.37:g.44131385_44131385dupC	ENSP00000222374:p.Gly101fs		Somatic					p.V101fs	NM_145296.1	NP_660339.1	WXS	Illumina GAIIx	Phase_I	Q8NFZ8	CADM4_HUMAN			3	350_351	-		Prostate(69;0.0199)	101			Ig-like V-type.		B2R7L5|Q9Y4A4	Frame_Shift_Ins	INS	ENST00000222374.2	37	c.302_303insG	CCDS12627.1																																																																																				0.604	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		7	195						7	195	---	---	---	---
ZNF233	353355	broad.mit.edu	37	19	44771142	44771157	+	Intron	DEL	GCGGGGTACAGCCTAG	GCGGGGTACAGCCTAG	-	rs368936872		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:44771142_44771157delGCGGGGTACAGCCTAG	ENST00000391958.2	+	4	365				ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000592581.1_Frame_Shift_Del_p.CGVQPS89fs	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTGAGTCTTTGCGGGGTACAGCCTAGTCCTCTCctc	0.532																																						ENST00000592581.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(265-282)ttfs		zinc finger protein 233																																				SO:0001627	intron_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44771142_44771157delGCGGGGTACAGCCTAG	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.238+28GCGGGGTACAGCCTAG>-	19.37:g.44771142_44771157delGCGGGGTACAGCCTAG			Somatic				ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000391958.2_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000589522.1_Intron	p.CGVQPS89fs	NM_001207005.1	NP_001193934.1	WXS	Illumina GAIIx	Phase_I	A6NK53	ZN233_HUMAN			4	372_387	+		Prostate(69;0.0435)|all_neural(266;0.226)	569					B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	c.266_281delGCGGGGTACAGCCTAG	CCDS33047.1																																																																																				0.532	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		12	94						12	94	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs		Somatic				MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	WXS	Illumina GAIIx	Phase_I	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		8	316						8	316	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)cggfs	p.R102fs	CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.R102fs|CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.R102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(304-306)gggfs		carnitine palmitoyltransferase 1C																																				SO:0001589	frameshift_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50203963_50203964insG	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.310dupG	19.37:g.50203969_50203969dupG	ENSP00000376303:p.Arg102fs		Somatic				CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs	p.G102fs	NM_001199752.1	NP_001186681.1	WXS	Illumina GAIIx	Phase_I	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	5	676_677	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	102					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Frame_Shift_Ins	INS	ENST00000392518.4	37	c.304_305insG	CCDS12779.1																																																																																				0.673	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		8	374						8	374	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)ccafs	p.P583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.P383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583					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)		CCCCCTGTTTTGGGGGGGTTCC	0.545																																						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.(1747-1749)caafs		testis-specific serine kinase substrate																																				SO:0001589	frameshift_variant	60385						protein binding	g.chr19:50243063_50243064insG	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.1749dupC	19.37:g.50243070_50243070dupG	ENSP00000246801:p.Pro583fs		Somatic				TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	p.Q583fs	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	1830_1831	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	583					Q8WXJ0	Frame_Shift_Ins	INS	ENST00000246801.3	37	c.1748_1749insC	CCDS12780.1																																																																																				0.545	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		15	512						15	512	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Somatic				NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		8	256						8	256	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		10	382						10	382	---	---	---	---
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		11	640						11	640	---	---	---	---
ZNF544	27300	broad.mit.edu	37	19	58758151	58758152	+	Frame_Shift_Ins	INS	-	-	C	rs201394081		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:58758151_58758152insC	ENST00000596652.1	+	5	469_470	c.235_236insC	c.(235-237)gccfs	p.A79fs	ZNF544_ENST00000333581.5_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000596929.1_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596825.1_Frame_Shift_Ins_p.GP67fs|ZNF544_ENST00000599227.1_Frame_Shift_Ins_p.GP67fs|ZNF544_ENST00000600044.1_Intron|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000269829.4_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000595981.1_Frame_Shift_Ins_p.A79fs|ZNF544_ENST00000594384.1_Frame_Shift_Ins_p.GP67fs|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000415203.2_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAGGAGGCCCCCCGAGGT	0.564																																						ENST00000599227.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(199-201)gccfs		zinc finger protein 544																																				SO:0001589	frameshift_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58758151_58758152insC	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.241dupC	19.37:g.58758157_58758157dupC	ENSP00000469635:p.Ala79fs		Somatic				ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596929.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000596825.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000415203.2_Intron|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000269829.4_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000333581.5_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000594384.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000596652.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000595981.1_Frame_Shift_Ins_p.P79fs	p.A67fs			WXS	Illumina GAIIx	Phase_I	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	784_785	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	0			KRAB.		A8K6J1|Q9UEX4	Frame_Shift_Ins	INS	ENST00000596652.1	37	c.200_201insC	CCDS12973.1																																																																																				0.564	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		14	471						14	471	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	87						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(256-261)gtccccfs		neurensin 2																																				SO:0001589	frameshift_variant	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:333922_333923insC	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.264dupC	20.37:g.333928_333928dupC	ENSP00000371728:p.Pro87fs		Somatic				NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	p.VP86fs	NM_024958.2	NP_079234.1	WXS	Illumina GAIIx	Phase_I	Q9GZP1	NRSN2_HUMAN			4	498_499	+		all_cancers(10;0.0834)	86					A8K3B2|Q6FII5|Q9NUD3	Frame_Shift_Ins	INS	ENST00000382291.3	37	c.258_259insC	CCDS12996.1																																																																																				0.644	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		7	463						7	463	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		13	294						13	294	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C	rs199845790		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:30737490_30737491insC	ENST00000398022.2	+	10	1243_1244	c.1008_1009insC	c.(1009-1011)cccfs	p.P337fs	TM9SF4_ENST00000217315.5_Frame_Shift_Ins_p.P320fs	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	337						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)			ACGTCTTCAGGCCCCCCCAGTA	0.604																																						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.(955-960)agccccfs		transmembrane 9 superfamily protein member 4																																				SO:0001589	frameshift_variant	9777					integral to membrane		g.chr20:30737490_30737491insC	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.1015dupC	20.37:g.30737497_30737497dupC	ENSP00000381104:p.Pro337fs		Somatic				TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs	p.SP319fs			WXS	Illumina GAIIx	Phase_I	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		10	1297_1298	+			336					B0QYT7|Q9NUA3	Frame_Shift_Ins	INS	ENST00000398022.2	37	c.957_958insC	CCDS13196.2																																																																																				0.604	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		9	174						9	174	---	---	---	---
ACSS2	55902	broad.mit.edu	37	20	33502205	33502206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:33502205_33502206insC	ENST00000360596.2	+	7	1010_1011	c.799_800insC	c.(799-801)tccfs	p.S267fs	ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.S267fs|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.S217fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	267					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAATT	0.535																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(799-801)cccfs		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33502205_33502206insC	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.806dupC	20.37:g.33502212_33502212dupC	ENSP00000353804:p.Ser267fs		Somatic				ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.P267fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.P217fs	p.P267fs	NM_018677.3	NP_061147.1	WXS	Illumina GAIIx	Phase_I	Q9NR19	ACSA_HUMAN			7	1010_1011	+			267					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Frame_Shift_Ins	INS	ENST00000360596.2	37	c.799_800insC	CCDS13243.1																																																																																				0.535	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		10	194						10	194	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39830891	39830892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:39830891_39830892insC	ENST00000309060.3	-	4	3080_3081	c.2665_2666insG	c.(2665-2667)gagfs	p.E889fs	ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.E889fs|ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.E889fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.E889fs|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.E889fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	889					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGGTCTCCTCCCCCATTTTC	0.554																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2665-2667)ggafs		zinc fingers and homeoboxes 3																																				SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830891_39830892insC	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2666dupG	20.37:g.39830896_39830896dupC	ENSP00000312222:p.Glu889fs		Somatic				ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.G889fs	p.G889fs			WXS	Illumina GAIIx	Phase_I	Q9H4I2	ZHX3_HUMAN			4	3080_3081	-		Myeloproliferative disorder(115;0.00425)	889					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Ins	INS	ENST00000309060.3	37	c.2665_2666insG	CCDS13315.1																																																																																				0.554	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		9	1137						9	1137	---	---	---	---
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C	rs554789813|rs559175371	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(625-627)cccfs	p.P209fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	209					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.54																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-627)tgccccfs		lipin 3																																				SO:0001589	frameshift_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977798_39977799insC	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.631dupC	20.37:g.39977805_39977805dupC	ENSP00000362354:p.Pro209fs		Somatic					p.CP208fs	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			5	715_716	+		Myeloproliferative disorder(115;0.000739)	208					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Frame_Shift_Ins	INS	ENST00000373257.3	37	c.624_625insC	CCDS33469.1																																																																																				0.540	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		18	382						18	382	---	---	---	---
SGK2	10110	broad.mit.edu	37	20	42195065	42195066	+	Frame_Shift_Ins	INS	-	-	C	rs368731563		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:42195065_42195066insC	ENST00000341458.4	+	1	329_330	c.110_111insC	c.(109-114)gaccccfs	p.DP37fs	SGK2_ENST00000373077.1_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000426287.1_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373092.3_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	37					intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCGGAGCTGACCCCCCAACAC	0.614																																						ENST00000341458.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(109-111)gccfs		serum/glucocorticoid regulated kinase 2																																				SO:0001589	frameshift_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42195065_42195066insC	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.116dupC	20.37:g.42195071_42195071dupC	ENSP00000340608:p.Asp37fs		Somatic				SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000426287.1_Intron	p.A37fs	NM_016276.3	NP_057360.2	WXS	Illumina GAIIx	Phase_I	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	329_330	+		Myeloproliferative disorder(115;0.00452)	37					Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Frame_Shift_Ins	INS	ENST00000341458.4	37	c.110_111insC	CCDS13320.1																																																																																				0.614	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			7	242						7	242	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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			39	708						39	708	---	---	---	---
WFDC3	140686	broad.mit.edu	37	20	44404105	44404106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:44404105_44404106insG	ENST00000243938.4	-	6	712_713	c.629_630insC	c.(628-630)ccafs	p.P210fs	WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.P73fs|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.P116fs	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	210						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TGGTCAGTTTTGGGGGCAGGAC	0.48																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(628-630)caafs		WAP four-disulfide core domain 3																																				SO:0001589	frameshift_variant	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44404105_44404106insG	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.630dupC	20.37:g.44404110_44404110dupG	ENSP00000243938:p.Pro210fs		Somatic				WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.Q73fs|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.Q116fs	p.Q210fs	NM_080614.1	NP_542181.1	WXS	Illumina GAIIx	Phase_I	Q8IUB2	WFDC3_HUMAN			6	712_713	-		Myeloproliferative disorder(115;0.0122)	210					A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Frame_Shift_Ins	INS	ENST00000243938.4	37	c.629_630insC	CCDS33478.1																																																																																				0.480	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			9	1150						9	1150	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)cccgccfs	p.A465fs	SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.A415fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.A383fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.A418fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.A50fs	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_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000472148.1_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			10	687						10	687	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)cccaaafs	p.K776fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	776					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	GGGAGGCTTTTGGGGGGGCTGG	0.545																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2328)ccaaagfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989771_47989772insG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2326dupC	20.37:g.47989778_47989778dupG	ENSP00000360806:p.Lys776fs		Somatic					p.PK775fs	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491_2492	-			775					Q14193	Frame_Shift_Ins	INS	ENST00000371741.4	37	c.2325_2326insC	CCDS13418.1																																																																																				0.545	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		34	1382						34	1382	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48522802	48522803	+	Frame_Shift_Ins	INS	-	-	G	rs201505755	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:48522802_48522803insG	ENST00000422556.1	-	3	1265_1266	c.916_917insC	c.(916-918)cacfs	p.H306fs	SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.H169fs|SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.H306fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGGCTGCCGTGGGGGGAGCTG	0.644																																						ENST00000422556.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(916-918)cggfs		spermatogenesis associated 2																																				SO:0001589	frameshift_variant	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48522802_48522803insG	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.917dupC	20.37:g.48522808_48522808dupG	ENSP00000416799:p.His306fs		Somatic				SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.R306fs|SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.R169fs	p.R306fs	NM_001135773.1	NP_001129245.1	WXS	Illumina GAIIx	Phase_I	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1265_1266	-	Hepatocellular(150;0.133)		306					E1P626|O94857	Frame_Shift_Ins	INS	ENST00000422556.1	37	c.916_917insC	CCDS13422.1																																																																																				0.644	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		10	368						10	368	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)ccgfs	p.P247fs	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(739-741)catfs		ATPase, class II, type 9A																																				SO:0001589	frameshift_variant	10079				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.chr20:50305661_50305662insG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.741dupC	20.37:g.50305667_50305667dupG	ENSP00000342481:p.Pro247fs		Somatic				ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.H247fs	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			9	1004_1005	-			247					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Frame_Shift_Ins	INS	ENST00000338821.5	37	c.740_741insC	CCDS33489.1																																																																																				0.564	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	790						10	790	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2983-2985)tccfs		spalt-like transcription factor 4																																				SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50400982_50400983insC	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2984dupG	20.37:g.50400989_50400989dupC	ENSP00000217086:p.Val995fs		Somatic				SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	p.S995fs	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			4	3094_3095	-			995					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Ins	INS	ENST00000217086.4	37	c.2983_2984insG	CCDS13438.1																																																																																				0.559	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			10	228						10	228	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G	rs535504707		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)cctfs	p.P552fs	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1654-1656)ccafs		ZFP64 zinc finger protein			,,,	11,4249		0,11,2119					,,,	-3.3	0.0			34	3,8249		0,3,4123	no	intron,frameshift,frameshift,frameshift	ZFP64	NM_199427.2,NM_199426.1,NM_022088.4,NM_018197.2	,,,	0,14,6242	A1A1,A1R,RR		0.0364,0.2582,0.1119	,,,	,,,		14,12498				SO:0001589	frameshift_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769075_50769076insG	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1656dupC	20.37:g.50769082_50769082dupG	ENSP00000216923:p.Pro552fs		Somatic				ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	p.P552fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	WXS	Illumina GAIIx	Phase_I	Q9NPA5	ZF64A_HUMAN			6	2004_2005	-			552					Q9NTS7|Q9NVH4	Frame_Shift_Ins	INS	ENST00000216923.4	37	c.1655_1656insC	CCDS13440.1																																																																																				0.673	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		9	169						9	169	---	---	---	---
KRTAP26-1	388818	broad.mit.edu	37	21	31691917	31691918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:31691917_31691918insG	ENST00000360542.3	-	1	689_690	c.436_437insC	c.(436-438)caafs	p.Q146fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	146						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGCAGAATTGGGGGCGATAG	0.55																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(436-438)attfs		keratin associated protein 26-1																																				SO:0001589	frameshift_variant	388818					intermediate filament		g.chr21:31691917_31691918insG	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.437dupC	21.37:g.31691922_31691922dupG	ENSP00000353742:p.Gln146fs		Somatic					p.I146fs	NM_203405.1	NP_981950.1	WXS	Illumina GAIIx	Phase_I	Q6PEX3	KR261_HUMAN			1	689_690	-			146					B0RZD3	Frame_Shift_Ins	INS	ENST00000360542.3	37	c.436_437insC	CCDS13588.1																																																																																				0.550	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		10	926						10	926	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(466-468)cccfs	p.P156fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.P119fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.P156fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.P156fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	156					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(463-468)gtccccfs		intersectin 1 (SH3 domain protein)																																				SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122566_35122567insC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.472dupC	21.37:g.35122573_35122573dupC	ENSP00000370719:p.Pro156fs		Somatic				ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs	p.VP155fs	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	Q15811	ITSN1_HUMAN			6	753_754	+			155					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Ins	INS	ENST00000381318.3	37	c.465_466insC	CCDS33545.1																																																																																				0.525	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		12	169						12	169	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)cccgaafs	p.E1093fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			1	Substitution - Missense(1)	p.E1093K(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3274-3279)ccaaaafs		Down syndrome cell adhesion molecule																																				SO:0001589	frameshift_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41514614_41514615insG	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3277dupC	21.37:g.41514621_41514621dupG	ENSP00000383303:p.Glu1093fs		Somatic					p.PK1092fs	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			18	3753_3754	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1092			Fibronectin type-III 3.		O60468	Frame_Shift_Ins	INS	ENST00000400454.1	37	c.3276_3277insC	CCDS42929.1																																																																																				0.406	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		17	614						17	614	---	---	---	---
RRP1B	23076	broad.mit.edu	37	21	45095032	45095033	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:45095032_45095033insG	ENST00000340648.4	+	6	654_655	c.537_538insG	c.(538-540)gggfs	p.G180fs		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	180					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCTCCAAAGTCGGGGGGAAGGA	0.569																																						ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(535-540)gtggggfs		ribosomal RNA processing 1B																																				SO:0001589	frameshift_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45095032_45095033insG	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.543dupG	21.37:g.45095038_45095038dupG	ENSP00000339145:p.Gly180fs		Somatic					p.VG179fs	NM_015056.2	NP_055871.1	WXS	Illumina GAIIx	Phase_I	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	6	654_655	+			179					Q8TBZ4	Frame_Shift_Ins	INS	ENST00000340648.4	37	c.537_538insG	CCDS33577.1																																																																																				0.569	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		7	195						7	195	---	---	---	---
KRTAP12-3	386683	broad.mit.edu	37	21	46078127	46078128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:46078127_46078128insC	ENST00000397907.1	+	1	279_280	c.231_232insC	c.(232-234)cccfs	p.P78fs	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	78	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGCTGCCAGCCCCCCTGCAC	0.639																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(229-234)caccccfs		keratin associated protein 12-3																																				SO:0001589	frameshift_variant	386683					intermediate filament		g.chr21:46078127_46078128insC	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.237dupC	21.37:g.46078133_46078133dupC	ENSP00000381005:p.Pro78fs		Somatic				TSPEAR_ENST00000323084.4_Intron	p.HP77fs	NM_198697.2	NP_941970.2	WXS	Illumina GAIIx	Phase_I	P60328	KR123_HUMAN			1	279_280	+			77			14 X 5 AA approximate repeats.			Frame_Shift_Ins	INS	ENST00000397907.1	37	c.231_232insC	CCDS42964.1																																																																																				0.639	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			7	378						7	378	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1760fs|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1760	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5278-5280)gctfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663396_47663397insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5279dupC	21.37:g.47663403_47663403dupG	ENSP00000380820:p.Arg1760fs		Somatic				MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA	p.A1760fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			25	5532_5533	-	Breast(49;0.112)		1760					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.5278_5279insC	CCDS13734.1																																																																																				0.525	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		11	423						11	423	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G	rs200634923	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)cccaaafs	p.K1463fs	MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.K1463fs|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4384-4389)ccaaatfs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47666704_47666705insG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4387dupC	21.37:g.47666710_47666710dupG	ENSP00000380820:p.Lys1463fs		Somatic				MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA	p.N1463fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			22	4640_4641	-	Breast(49;0.112)		1463					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.4386_4387insC	CCDS13734.1																																																																																				0.609	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		9	616						9	616	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)gggatgfs	p.M465fs	CECR1_ENST00000399837.2_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.M224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.M465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.M423fs	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1390-1395)ggtgaafs		cat eye syndrome chromosome region, candidate 1																																				SO:0001589	frameshift_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662759_17662760insC	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1393dupG	22.37:g.17662765_17662765dupC	ENSP00000382733:p.Met465fs		Somatic				CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs	p.E465fs			WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			9	1662_1663	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	465					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Frame_Shift_Ins	INS	ENST00000399839.1	37	c.1392_1393insG	CCDS13742.1																																																																																				0.564	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			11	419						11	419	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	5'Flank	INS	-	-	C	rs529641856|rs548950945	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:21399220_21399221insC	ENST00000342608.4	+	0	0				AC002472.11_ENST00000450652.1_RNA|AC002472.13_ENST00000543388.1_5'Flank|P2RX6P_ENST00000439119.1_RNA																lung(2)	2						TCTGCAGGGCGCCCCCCCACCA	0.599																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399220_21399221insC																													22.37:g.21399227_21399227dupC	Exception_encountered		Somatic						NR_002829.1		WXS	Illumina GAIIx	Phase_I					0	51	-									RNA	INS	ENST00000342608.4	37																																																																																						0.599	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				12	231						12	231	---	---	---	---
TPST2	8459	broad.mit.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)cccaacfs	p.N333fs	TPST2_ENST00000398110.2_Frame_Shift_Ins_p.N333fs|TPST2_ENST00000403880.1_Frame_Shift_Ins_p.N333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(994-999)ccactafs		tyrosylprotein sulfotransferase 2																																				SO:0001589	frameshift_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26932298_26932299insG	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.997dupC	22.37:g.26932305_26932305dupG	ENSP00000339813:p.Asn333fs		Somatic				TPST2_ENST00000403880.1_Frame_Shift_Ins_p.L333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.L333fs	p.L333fs	NM_003595.3	NP_003586.3	WXS	Illumina GAIIx	Phase_I	O60704	TPST2_HUMAN			4	1266_1267	-			333					B3KQA7|Q6FI98|Q9H0V4	Frame_Shift_Ins	INS	ENST00000338754.4	37	c.996_997insC	CCDS13839.1																																																																																				0.584	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		9	313						9	313	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C	rs552962356		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1884)caccccfs	p.HP627fs	OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.HP578fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.HP461fs|OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.HP260fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.HP369fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.HP171fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.HP626fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.HP454fs	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1879-1881)cccfs		oxysterol binding protein 2																																				SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31289119_31289120insC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1887dupC	22.37:g.31289126_31289126dupC	ENSP00000332576:p.His627fs		Somatic				OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs	p.P627fs	NM_030758.3	NP_110385.1	WXS	Illumina GAIIx	Phase_I	Q969R2	OSBP2_HUMAN			9	1984_1985	+			627					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Ins	INS	ENST00000332585.6	37	c.1880_1881insC	CCDS43002.1																																																																																				0.594	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		8	116						8	116	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:37499435_37499436insG	ENST00000346753.3	-	2	165_166	c.49_50insC	c.(49-51)cagfs	p.Q17fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.Q17fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.Q8fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(22-24)ggtfs		transmembrane protease, serine 6																																				SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499435_37499436insG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.50dupC	22.37:g.37499441_37499441dupG	ENSP00000334962:p.Gln17fs		Somatic				TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs	p.G8fs			WXS	Illumina GAIIx	Phase_I	Q8IU80	TMPS6_HUMAN			2	162_163	-			17					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Ins	INS	ENST00000346753.3	37	c.22_23insC	CCDS13941.1																																																																																				0.658	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		11	795						11	795	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	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		10	242						10	242	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39122087	39122088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:39122087_39122088insC	ENST00000216044.5	+	7	1383_1384	c.1150_1151insC	c.(1150-1152)tccfs	p.S384fs	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	384	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CAACCTCCTCTCCCCCCGCACC	0.569																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1150-1152)cccfs		GTP binding protein 1																																				SO:0001589	frameshift_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39122087_39122088insC	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1156dupC	22.37:g.39122093_39122093dupC	ENSP00000216044:p.Ser384fs		Somatic				GTPBP1_ENST00000460605.1_3'UTR	p.P384fs	NM_004286.4	NP_004277.2	WXS	Illumina GAIIx	Phase_I	O00178	GTPB1_HUMAN			7	1383_1384	+	Melanoma(58;0.04)		384					Q6IC67	Frame_Shift_Ins	INS	ENST00000216044.5	37	c.1150_1151insC	CCDS13977.2																																																																																				0.569	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		7	367						7	367	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-402)caccccfs		activating transcription factor 4																																				SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917950_39917951insC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Somatic				ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	p.HP133fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	P18848	ATF4_HUMAN			2	1281_1282	+	Melanoma(58;0.04)		133					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.399_400insC	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		8	245						8	245	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4521)ctggggfs	p.LG1506fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.LG702fs|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.LG1396fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.LG702fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.48																																						ENST00000454349.2																			0				breast(1)	1						c.(4516-4518)cggfs		trinucleotide repeat containing 6B																																				SO:0001589	frameshift_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40708590_40708591insG	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4523dupG	22.37:g.40708596_40708596dupG	ENSP00000401946:p.Leu1506fs		Somatic				TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs	p.R1506fs	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			18	4728_4729	+			1506					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	ENST00000454349.2	37	c.4517_4518insG	CCDS54533.1																																																																																				0.480	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	608						9	608	---	---	---	---
SEPT3	55964	broad.mit.edu	37	22	42387614	42387615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:42387614_42387615insC	ENST00000396426.3	+	7	962_963	c.707_708insC	c.(706-711)taccccfs	p.YP236fs	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396425.3_Frame_Shift_Ins_p.YP236fs|SEPT3_ENST00000291236.11_Frame_Shift_Ins_p.YP172fs|SEPT3_ENST00000406029.1_Frame_Shift_Ins_p.YP172fs	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	236	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ATTGAATTCTACCCCCAGAAGG	0.505																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(706-708)tccfs		septin 3																																				SO:0001589	frameshift_variant	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42387614_42387615insC	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.712dupC	22.37:g.42387619_42387619dupC	ENSP00000379704:p.Tyr236fs		Somatic				SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396426.3_Frame_Shift_Ins_p.S236fs|SEPT3_ENST00000406029.1_Frame_Shift_Ins_p.S172fs|SEPT3_ENST00000291236.11_Frame_Shift_Ins_p.S172fs	p.S236fs	NM_019106.5	NP_061979.3	WXS	Illumina GAIIx	Phase_I	Q9UH03	SEPT3_HUMAN			7	838_839	+			236					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Frame_Shift_Ins	INS	ENST00000396426.3	37	c.707_708insC	CCDS14026.2																																																																																				0.505	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		7	544						7	544	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		15	594						15	594	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-93)caccccfs	p.HP30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.HP30fs|TBC1D22A_ENST00000472791.1_3'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_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	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		21	314						21	314	---	---	---	---
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)tggfs	p.W133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.W133fs	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	87						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(397-399)gggfs		carbonic anhydrase VB, mitochondrial																																				SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15790675_15790676insG	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.403dupG	X.37:g.15790681_15790681dupG	ENSP00000314099:p.Trp133fs		Somatic				CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	p.G133fs	NM_007220.3	NP_009151.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D0	CAH5B_HUMAN			4	533_534	+	Hepatocellular(33;0.183)		133					A6NEZ4	Frame_Shift_Ins	INS	ENST00000318636.3	37	c.397_398insG	CCDS14171.1																																																																																				0.495	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		8	389						8	389	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(391-396)ccccccfs		proline rich Gla (G-carboxyglutamic acid) 1																																				SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312610_37312611insC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs		Somatic				PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs	p.PP131fs	NM_001173489.1	NP_001166960.1	WXS	Illumina GAIIx	Phase_I	O14668	TMG1_HUMAN			5	665_666	+			131			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	ENST00000542554.1	37	c.393_394insC	CCDS14239.1																																																																																				0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		16	208						16	208	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:40982956_40982957insC	ENST00000324545.8	+	2	708_709	c.75_76insC	c.(76-78)cccfs	p.P26fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.P26fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	26					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.54																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(73-78)caccccfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40982956_40982957insC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.82dupC	X.37:g.40982963_40982963dupC	ENSP00000316357:p.Pro26fs		Somatic				USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			2	708_709	+			25	Q -> L (in Ref. 1; CAA66942).				O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.75_76insC	CCDS43930.1																																																																																				0.540	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	119						8	119	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	RNA	INS	-	-	G	rs41305745		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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		8	394						8	394	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	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		13	361						13	361	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53227036	53227042	+	Frame_Shift_Del	DEL	GTAGACC	GTAGACC	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:53227036_53227042delGTAGACC	ENST00000375401.3	-	18	3065_3071	c.2533_2539delGGTCTAC	c.(2533-2541)ggtctacagfs	p.GLQ845fs	KDM5C_ENST00000375383.3_Frame_Shift_Del_p.GLQ804fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.GLQ778fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.GLQ844fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.GLQ845fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	845					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGGTCATCTGTAGACCAGCCACCCTG	0.536			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(2332-2340)agfs		lysine (K)-specific demethylase 5C																																				SO:0001589	frameshift_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53227036_53227042delGTAGACC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2533_2539delGGTCTAC	X.37:g.53227036_53227042delGTAGACC	ENSP00000364550:p.Gly845fs		Somatic				KDM5C_ENST00000375379.3_Frame_Shift_Del_p.GLQ845fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.GLQ804fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.GLQ845fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.GLQ844fs	p.GLQ778fs	NM_001146702.1	NP_001140174.1	WXS	Illumina GAIIx	Phase_I	P41229	KDM5C_HUMAN			16	2864_2870	-			845					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	c.2332_2338delGGTCTAC	CCDS14351.1																																																																																				0.536	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		5	8						5	8	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86890606	86890606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:86890606delT	ENST00000373119.4	+	9	1901	c.1756delT	c.(1756-1758)tcafs	p.S586fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.S586fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	586						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGCCTCAAATCAATGGAATA	0.398																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1756-1758)cafs		kelch-like family member 4							127.0	106.0	114.0					X																	86890606		2203	4300	6503	SO:0001589	frameshift_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890606delT	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1756delT	X.37:g.86890606delT	ENSP00000362211:p.Ser586fs		Somatic				KLHL4_ENST00000373114.4_Frame_Shift_Del_p.S586fs	p.S586fs	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			9	1901	+			586					B2RTW2|Q9Y3J5	Frame_Shift_Del	DEL	ENST00000373119.4	37	c.1756delT	CCDS14457.1																																																																																				0.398	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			87	49						87	49	---	---	---	---
VSIG1	340547	broad.mit.edu	37	X	107310311	107310312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:107310311_107310312insC	ENST00000217957.5	+	3	476_477	c.359_360insC	c.(358-363)aaccccfs	p.NP120fs	VSIG1_ENST00000415430.3_Frame_Shift_Ins_p.NP156fs|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	120	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GATGTTAACAACCCCCCAGACT	0.436																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(466-468)accfs		V-set and immunoglobulin domain containing 1																																				SO:0001589	frameshift_variant	340547					integral to membrane		g.chrX:107310311_107310312insC	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.365dupC	X.37:g.107310317_107310317dupC	ENSP00000217957:p.Asn120fs		Somatic				VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Frame_Shift_Ins_p.T120fs	p.T156fs	NM_001170553.1	NP_001164024.1	WXS	Illumina GAIIx	Phase_I	Q86XK7	VSIG1_HUMAN			4	628_629	+			120			Ig-like C2-type 2.		C9J4P2|Q6MZS4	Frame_Shift_Ins	INS	ENST00000217957.5	37	c.467_468insC	CCDS14535.1																																																																																				0.436	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		7	592						7	592	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs		Somatic					p.E591fs	NM_003604.2	NP_003595.1	WXS	Illumina GAIIx	Phase_I	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		18	142						18	142	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130411035	130411036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:130411035_130411036insC	ENST00000361420.3	-	14	2564_2565	c.2485_2486insG	c.(2485-2487)gccfs	p.A829fs	IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.A834fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.A820fs|IGSF1_ENST00000370904.1_Frame_Shift_Ins_p.A820fs|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	829	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTGCACTGGCCCCCGGACTT	0.49																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2458-2460)cagfs		immunoglobulin superfamily, member 1																																				SO:0001589	frameshift_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411035_130411036insC	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2486dupG	X.37:g.130411040_130411040dupC	ENSP00000355010:p.Ala829fs		Somatic				IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.Q834fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.Q820fs|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.Q829fs	p.Q820fs			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			20	3368_3369	-			829			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Ins	INS	ENST00000361420.3	37	c.2458_2459insG	CCDS14629.1																																																																																				0.490	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			11	649						11	649	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)ggtfs		MAP7 domain containing 3																																				SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314193_135314194insG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.923dupC	X.37:g.135314200_135314200dupG	ENSP00000318086:p.Gln308fs		Somatic				MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	p.G308fs	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1142_1143	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Ins	INS	ENST00000316077.9	37	c.922_923insC	CCDS44004.1																																																																																				0.535	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			23	308						23	308	---	---	---	---
